Also known as: Cerebral Gigantism in Childhood Background In this rare syndrome, babies are generally significantly larger and heavier than average caused by excessive prenatal (before birth) and early post-natal (after birth) growth. Credits Last updated February 2015 by Dr R Stanhope, Consultant Paediatric Endocrinologist, The Portland Hospital, London, UK. What are the symptoms? Characteristics include macrocephaly (large head) with accelerated bone development. Children may have delayed development and language problems. In addition, the faces of children with Sotos syndrome may appear similar, including widely spaced eyes, a prominent jaw and high-arched palate (roof of the mouth). Some children will have normal intelligence; however, some may have a mild form of learning disability. Children with Sotos syndrome may be clumsy or ataxic (unsteady). Growth rate of children with Sotos syndrome usually slows at four to five years of age. Adults are usually a similar height to adults without the syndrome. Weaver syndrome is a condition characterised by accelerated growth, mild hypotonia (low muscle tone), loose skin, thin hair and camptodactyly (permanent immobility of a flexed finger joint). In the first years of life, Sotos syndrome may be misdiagnosed as Weaver syndrome. Some people with Sotos syndrome also have behavioural problems. Frequent behavioural issues include attention deficit hyperactivity disorder (ADHD), phobias, obsessions and compulsions, tantrums and impulsive behaviours. What are the causes? Mutations in the NSD1 gene cause Sotos syndrome. The NSD1 gene provides instructions for making a protein that is involved in normal growth and development. It is unclear how a reduced amount of this protein during development leads to learning disabilities, overgrowth and the other features of Sotos syndrome. How is it diagnosed? Sotos syndrome may be suspected during pregnancy or noted shortly after birth, due to overgrowth. A molecular test (testing the DNA) in the NDS1 gene may confirm the diagnosis. For some children, only a clinical diagnosis will be given. How is it treated? Sotos syndrome is managed by providing support to children affected by the condition in some areas of their lives. There is no cure for the condition at the moment. It is not a life-threatening condition and those affected may have a normal life expectancy. The initial abnormalities of Sotos syndrome usually resolve as the growth rate becomes normal after the first few years of life. Developmental delays may improve in the school-age years, and adults with Sotos syndrome are likely to be within the normal range for intellectual ability and height. However, coordination problems may persist into adulthood. Special educational support may be required. Inheritance patterns and prenatal diagnosis Inheritance patterns Most cases are sporadic mutations and occur by chance in a previously non-affected family. A few families have been described with more than one affected family member and this has confirmed that the inheritance for any children of somebody with Sotos syndrome is autosomal dominant. Weaver syndrome probably has some pattern of inheritance, though this has not been fully determined. Genetic counselling is available for affected families. Prenatal diagnosisMacrocephaly, large hands, long arms and excessive growth are detectable using ultrasound scanning. Is there support? Information and support in the UK for Sotos syndrome is provided by the Child Growth Foundation (see entry Restricted Growth).
What are the symptoms? Characteristics include macrocephaly (large head) with accelerated bone development. Children may have delayed development and language problems. In addition, the faces of children with Sotos syndrome may appear similar, including widely spaced eyes, a prominent jaw and high-arched palate (roof of the mouth). Some children will have normal intelligence; however, some may have a mild form of learning disability. Children with Sotos syndrome may be clumsy or ataxic (unsteady). Growth rate of children with Sotos syndrome usually slows at four to five years of age. Adults are usually a similar height to adults without the syndrome. Weaver syndrome is a condition characterised by accelerated growth, mild hypotonia (low muscle tone), loose skin, thin hair and camptodactyly (permanent immobility of a flexed finger joint). In the first years of life, Sotos syndrome may be misdiagnosed as Weaver syndrome. Some people with Sotos syndrome also have behavioural problems. Frequent behavioural issues include attention deficit hyperactivity disorder (ADHD), phobias, obsessions and compulsions, tantrums and impulsive behaviours. What are the causes? Mutations in the NSD1 gene cause Sotos syndrome. The NSD1 gene provides instructions for making a protein that is involved in normal growth and development. It is unclear how a reduced amount of this protein during development leads to learning disabilities, overgrowth and the other features of Sotos syndrome. How is it diagnosed? Sotos syndrome may be suspected during pregnancy or noted shortly after birth, due to overgrowth. A molecular test (testing the DNA) in the NDS1 gene may confirm the diagnosis. For some children, only a clinical diagnosis will be given. How is it treated? Sotos syndrome is managed by providing support to children affected by the condition in some areas of their lives. There is no cure for the condition at the moment. It is not a life-threatening condition and those affected may have a normal life expectancy. The initial abnormalities of Sotos syndrome usually resolve as the growth rate becomes normal after the first few years of life. Developmental delays may improve in the school-age years, and adults with Sotos syndrome are likely to be within the normal range for intellectual ability and height. However, coordination problems may persist into adulthood. Special educational support may be required. Inheritance patterns and prenatal diagnosis Inheritance patterns Most cases are sporadic mutations and occur by chance in a previously non-affected family. A few families have been described with more than one affected family member and this has confirmed that the inheritance for any children of somebody with Sotos syndrome is autosomal dominant. Weaver syndrome probably has some pattern of inheritance, though this has not been fully determined. Genetic counselling is available for affected families. Prenatal diagnosisMacrocephaly, large hands, long arms and excessive growth are detectable using ultrasound scanning. Is there support? Information and support in the UK for Sotos syndrome is provided by the Child Growth Foundation (see entry Restricted Growth).
What are the symptoms? Characteristics include macrocephaly (large head) with accelerated bone development. Children may have delayed development and language problems. In addition, the faces of children with Sotos syndrome may appear similar, including widely spaced eyes, a prominent jaw and high-arched palate (roof of the mouth). Some children will have normal intelligence; however, some may have a mild form of learning disability. Children with Sotos syndrome may be clumsy or ataxic (unsteady). Growth rate of children with Sotos syndrome usually slows at four to five years of age. Adults are usually a similar height to adults without the syndrome. Weaver syndrome is a condition characterised by accelerated growth, mild hypotonia (low muscle tone), loose skin, thin hair and camptodactyly (permanent immobility of a flexed finger joint). In the first years of life, Sotos syndrome may be misdiagnosed as Weaver syndrome. Some people with Sotos syndrome also have behavioural problems. Frequent behavioural issues include attention deficit hyperactivity disorder (ADHD), phobias, obsessions and compulsions, tantrums and impulsive behaviours.
What are the causes? Mutations in the NSD1 gene cause Sotos syndrome. The NSD1 gene provides instructions for making a protein that is involved in normal growth and development. It is unclear how a reduced amount of this protein during development leads to learning disabilities, overgrowth and the other features of Sotos syndrome.
How is it diagnosed? Sotos syndrome may be suspected during pregnancy or noted shortly after birth, due to overgrowth. A molecular test (testing the DNA) in the NDS1 gene may confirm the diagnosis. For some children, only a clinical diagnosis will be given.
How is it treated? Sotos syndrome is managed by providing support to children affected by the condition in some areas of their lives. There is no cure for the condition at the moment. It is not a life-threatening condition and those affected may have a normal life expectancy. The initial abnormalities of Sotos syndrome usually resolve as the growth rate becomes normal after the first few years of life. Developmental delays may improve in the school-age years, and adults with Sotos syndrome are likely to be within the normal range for intellectual ability and height. However, coordination problems may persist into adulthood. Special educational support may be required.
Inheritance patterns and prenatal diagnosis Inheritance patterns Most cases are sporadic mutations and occur by chance in a previously non-affected family. A few families have been described with more than one affected family member and this has confirmed that the inheritance for any children of somebody with Sotos syndrome is autosomal dominant. Weaver syndrome probably has some pattern of inheritance, though this has not been fully determined. Genetic counselling is available for affected families. Prenatal diagnosisMacrocephaly, large hands, long arms and excessive growth are detectable using ultrasound scanning.
Is there support? Information and support in the UK for Sotos syndrome is provided by the Child Growth Foundation (see entry Restricted Growth).
Background Smith-Magenis syndrome (SMS) is a rare condition that is associated with developmental delay, learning difficulties (see entry Learning Disability), behavioural difficulties and a disturbed sleep pattern. SMS was first described by Ann Smith and colleagues in 1982. At least 1 in 25,000 children are born with this condition, and it is probably under diagnosed. Recent estimates suggest the number could be nearer to 1 in 15,000. Credits Medical text written August 2011 by Dr Alison Male. Last updated September 2020 by Dr Alison Male, Consultant in Clinical Genetics, Great Ormond Street Hospital, London, UK. Although great care has been taken in the compilation and preparation of all entries to ensure accuracy, we cannot accept responsibility for any errors or omissions. Any medical information provided is for education/information purposes and is not designed to replace medical advice by a qualified medical professional. What are the symptoms? Most children with SMS have developmental delay and moderate-to-severe learning difficulties. In infancy low-muscle tone, feeding difficulties, failure to thrive and frequent ear infections are common. Speech delay tends to be more pronounced than motor delay, and language comprehension is more impaired than expression. The most distinctive features of SMS are the behavioural problems. These include self-injurious behaviours such as hand biting, self-pinching or scratching, and picking at sores. Other behavioural problems include aggression, frequent temper tantrums, hyperactivity, restlessness and distractibility, and severe sleep disturbance. In many cases, the severe behaviour difficulties in children with the syndrome persist into adulthood. Autistic-type behaviours (see entry Autism Spectrum conditions), such as resistance to change, repetitive questioning and preoccupations with particular topics are also common. In contrast, children with SMS are often described as loving and caring, eager to please and with a good sense of humour. They usually enjoy interacting with adults. Facial features of SMS include a flat, broad head and prominent forehead, heavy brows, up-slanting eyes, depressed nasal bridge, and a wide mouth with an inverted central portion of the upper lip. Other features include a hoarse, deep voice, short stature, eye problems (squint and abnormalities of the iris), hearing loss and scoliosis. Congenital heart disease (see entry Heart Defects), epilepsy and kidney abnormalities are less consistent features. Clinical signs of peripheral neuropathy are found in 75 per cent of individuals, and include decreased sensitivity to pain and temperature, gait disturbances (leading to walking abnormalities) and muscle weakness. What are the causes? SMS is caused by a small deletion (microdeletion) on chromosome 17 (17p 11.2). Although this region contains multiple genes, loss of one particular gene, the retinoic acid induced 1 or RAI1, is responsible for most of the characteristic features of this condition. A small percentage of people with SMS have a mutation in the RAI1gene instead of a chromosomal deletion. How is it diagnosed? The characteristic behaviour and sleep disturbance coupled with the distinctive facial features often suggest the diagnosis, which can be confirmed by detailed chromosome testing (eg array CGH ) to look for the 17p11.2 microdeletion. In some cases diagnosis is made by sequencing the RAI1 gene. How is it treated? There is no cure for SMS, but there are several treatments that can help to improve symptoms in those affected. Melatonin has been used in some individuals with SMS to help correct sleep disturbance. Individuals will need to be managed by a multidisciplinary team of specialists who can help support their medical, educational and social care needs. Inheritance patterns and prenatal diagnosis Inheritance patternsMost cases of SMS are sporadic in origin. Rarely, the 17p11.2 microdeletion may arise in a child because one of the parents might carry a ‘balanced’ rearrangement involving this region of the short arm of one chromosome 17. If the parental chromosomes are normal, then the recurrence risk of SMS is likely to be very small. Prenatal diagnosisParents of children with SMS can be offered prenatal diagnosis for future pregnancies. This involves chorionic villus sampling (CVS) or amniocentesis, followed by analysis to look for the 17p11.2 microdeletion. Is there support? Smith-Magenis Syndrome Foundation UK (SMS) Tel: 0300 101 0034Email: info@smith-magenis.co.ukWebsite: smith-magenis.co.uk The Foundation is a Registered Charity in England and Wales No. 1072573. It offers support and information, publishes a newsletter, raises awareness of the condition and supports research. Group details last reviewed September 2020.
What are the symptoms? Most children with SMS have developmental delay and moderate-to-severe learning difficulties. In infancy low-muscle tone, feeding difficulties, failure to thrive and frequent ear infections are common. Speech delay tends to be more pronounced than motor delay, and language comprehension is more impaired than expression. The most distinctive features of SMS are the behavioural problems. These include self-injurious behaviours such as hand biting, self-pinching or scratching, and picking at sores. Other behavioural problems include aggression, frequent temper tantrums, hyperactivity, restlessness and distractibility, and severe sleep disturbance. In many cases, the severe behaviour difficulties in children with the syndrome persist into adulthood. Autistic-type behaviours (see entry Autism Spectrum conditions), such as resistance to change, repetitive questioning and preoccupations with particular topics are also common. In contrast, children with SMS are often described as loving and caring, eager to please and with a good sense of humour. They usually enjoy interacting with adults. Facial features of SMS include a flat, broad head and prominent forehead, heavy brows, up-slanting eyes, depressed nasal bridge, and a wide mouth with an inverted central portion of the upper lip. Other features include a hoarse, deep voice, short stature, eye problems (squint and abnormalities of the iris), hearing loss and scoliosis. Congenital heart disease (see entry Heart Defects), epilepsy and kidney abnormalities are less consistent features. Clinical signs of peripheral neuropathy are found in 75 per cent of individuals, and include decreased sensitivity to pain and temperature, gait disturbances (leading to walking abnormalities) and muscle weakness. What are the causes? SMS is caused by a small deletion (microdeletion) on chromosome 17 (17p 11.2). Although this region contains multiple genes, loss of one particular gene, the retinoic acid induced 1 or RAI1, is responsible for most of the characteristic features of this condition. A small percentage of people with SMS have a mutation in the RAI1gene instead of a chromosomal deletion. How is it diagnosed? The characteristic behaviour and sleep disturbance coupled with the distinctive facial features often suggest the diagnosis, which can be confirmed by detailed chromosome testing (eg array CGH ) to look for the 17p11.2 microdeletion. In some cases diagnosis is made by sequencing the RAI1 gene. How is it treated? There is no cure for SMS, but there are several treatments that can help to improve symptoms in those affected. Melatonin has been used in some individuals with SMS to help correct sleep disturbance. Individuals will need to be managed by a multidisciplinary team of specialists who can help support their medical, educational and social care needs. Inheritance patterns and prenatal diagnosis Inheritance patternsMost cases of SMS are sporadic in origin. Rarely, the 17p11.2 microdeletion may arise in a child because one of the parents might carry a ‘balanced’ rearrangement involving this region of the short arm of one chromosome 17. If the parental chromosomes are normal, then the recurrence risk of SMS is likely to be very small. Prenatal diagnosisParents of children with SMS can be offered prenatal diagnosis for future pregnancies. This involves chorionic villus sampling (CVS) or amniocentesis, followed by analysis to look for the 17p11.2 microdeletion. Is there support? Smith-Magenis Syndrome Foundation UK (SMS) Tel: 0300 101 0034Email: info@smith-magenis.co.ukWebsite: smith-magenis.co.uk The Foundation is a Registered Charity in England and Wales No. 1072573. It offers support and information, publishes a newsletter, raises awareness of the condition and supports research. Group details last reviewed September 2020.
What are the symptoms? Most children with SMS have developmental delay and moderate-to-severe learning difficulties. In infancy low-muscle tone, feeding difficulties, failure to thrive and frequent ear infections are common. Speech delay tends to be more pronounced than motor delay, and language comprehension is more impaired than expression. The most distinctive features of SMS are the behavioural problems. These include self-injurious behaviours such as hand biting, self-pinching or scratching, and picking at sores. Other behavioural problems include aggression, frequent temper tantrums, hyperactivity, restlessness and distractibility, and severe sleep disturbance. In many cases, the severe behaviour difficulties in children with the syndrome persist into adulthood. Autistic-type behaviours (see entry Autism Spectrum conditions), such as resistance to change, repetitive questioning and preoccupations with particular topics are also common. In contrast, children with SMS are often described as loving and caring, eager to please and with a good sense of humour. They usually enjoy interacting with adults. Facial features of SMS include a flat, broad head and prominent forehead, heavy brows, up-slanting eyes, depressed nasal bridge, and a wide mouth with an inverted central portion of the upper lip. Other features include a hoarse, deep voice, short stature, eye problems (squint and abnormalities of the iris), hearing loss and scoliosis. Congenital heart disease (see entry Heart Defects), epilepsy and kidney abnormalities are less consistent features. Clinical signs of peripheral neuropathy are found in 75 per cent of individuals, and include decreased sensitivity to pain and temperature, gait disturbances (leading to walking abnormalities) and muscle weakness.
What are the causes? SMS is caused by a small deletion (microdeletion) on chromosome 17 (17p 11.2). Although this region contains multiple genes, loss of one particular gene, the retinoic acid induced 1 or RAI1, is responsible for most of the characteristic features of this condition. A small percentage of people with SMS have a mutation in the RAI1gene instead of a chromosomal deletion.
How is it diagnosed? The characteristic behaviour and sleep disturbance coupled with the distinctive facial features often suggest the diagnosis, which can be confirmed by detailed chromosome testing (eg array CGH ) to look for the 17p11.2 microdeletion. In some cases diagnosis is made by sequencing the RAI1 gene.
How is it treated? There is no cure for SMS, but there are several treatments that can help to improve symptoms in those affected. Melatonin has been used in some individuals with SMS to help correct sleep disturbance. Individuals will need to be managed by a multidisciplinary team of specialists who can help support their medical, educational and social care needs.
Inheritance patterns and prenatal diagnosis Inheritance patternsMost cases of SMS are sporadic in origin. Rarely, the 17p11.2 microdeletion may arise in a child because one of the parents might carry a ‘balanced’ rearrangement involving this region of the short arm of one chromosome 17. If the parental chromosomes are normal, then the recurrence risk of SMS is likely to be very small. Prenatal diagnosisParents of children with SMS can be offered prenatal diagnosis for future pregnancies. This involves chorionic villus sampling (CVS) or amniocentesis, followed by analysis to look for the 17p11.2 microdeletion.
Is there support? Smith-Magenis Syndrome Foundation UK (SMS) Tel: 0300 101 0034Email: info@smith-magenis.co.ukWebsite: smith-magenis.co.uk The Foundation is a Registered Charity in England and Wales No. 1072573. It offers support and information, publishes a newsletter, raises awareness of the condition and supports research. Group details last reviewed September 2020.
Background Smith-Lemli-Opitz syndrome (SLOS) is a rare autosomal recessive disorder of cholesterol synthesis caused by mutations in 3β-hydroxysterol Δ7-reductase (DHCR7) gene. The estimated incidence of SLOS is between 1 in 20,000 to 1 in 40,000 live births, but may be higher. Credits Last updated September 2018 by Germaine Pierre, Paediatric Metabolic Consultant, University Hospitals Bristol NHS Foundation Trust, Bristol, UK. Although great care has been taken in the compilation and preparation of all entries to ensure accuracy, we cannot accept responsibility for any errors or omissions. Any medical information provided is for education/information purposes and is not designed to replace medical advice by a qualified medical professional. What are the symptoms? The presentation of individuals with SLOS is broad ranging from a less severe disorder with behavioural and learning difficulties to a lethal syndrome with miscarriage, stillbirth or death in the first weeks of life. Individuals often have typical facial features, including microcephaly, a small upturned nose, droopy upper eyelids and micrognathia (undersized jaw). Other abnormalities may include: cleft palate (see entry Cleft Lip and/or Palate)abnormalities of the fingers and toes, including polydactyly (an additional digit) and syndactyly of the second and third toes. (where two or more digits are fused together)abnormalities in development of the heart, kidneys, liver and lungsunderdevelopment of external genitalia occurs in males. In surviving infants, slow growth and poor weight gain is usual and feeding via a gastrostomy (a tube into the stomach) may be required. As the infant gets older, severe learning difficulties (see entry Learning Disability) usually become evident. In addition, individuals with SLOS tend to display hyperactivity, sleep disturbance, autistic-type behaviour (see entry Autism Spectrum conditions) and have a tendency to self-injure. Individuals are very rarely able to live independently. What are the causes? Mutations in the DHCR7 gene result in abnormal sterol metabolism. The DHCR7 gene codes for the DHCR7 enzyme which drives the conversion of 7-dehydrocholesterol to cholesterol. Reduction in the activity of the DHCR7 enzyme leads to increased 7-dehydrocholesterol levels and reduced cholesterol levels leading to the problems seen in SLOS. How is it diagnosed? SLOS is usually first suspected clinically from characteristic features. High levels of 7-dehydrocholesterol in blood or other tissues confirms the diagnosis. This finding is usually specific to SLOS, though borderline cases can be confirmed by genetic studies looking for mutations in the DHCR7 gene. A normal cholesterol level does not exclude SLOS. How is it treated? There is no treatment for SLOS. Dietary cholesterol does not cross into the brain to correct neurodevelopmental deficits though in some individuals, supplementation has been reported to improve growth and behaviour. In less affected cases, simvastatin has been used as it crosses into the brain and lowers 7-deyhydrocholesterol levels but study findings have not shown consistent benefit. Antioxidant supplements may be helpful. Good supportive care remains the mainstay of management. Input is often needed for nutritional management, treatment of sleep disturbances or seizures and management of skin sensitivities and behaviour. Surgical intervention may be needed for placement of a feeding tube or correction of malformations. Future treatment options Gene therapy: Using mouse models for SLOS, functional copies of the DHCR7 gene have been delivered into the brain with an adeno-associated viral vector and shown to partially restore sterol levels. Further work is needed to show functional correction before translation to humans. Substrate reduction: SLOS has been shown to secondarily affect the transport of cholesterol within the cell similar to what is seen in another disorder, Niemann Pick C disease type 1 (NPC1). In NPC1, there is a build-up of glycosphingolipids which are harmful. SLOS cells also show a build-up of glycosphingolipid which increases with disease severity. Miglustat, a substrate reducer can cross into the brain and reduces glycosphingolipid accumulation in NPC1 and also in SLOS cells. It may be a useful adjunctive therapy for SLOS in the future. Inheritance patterns and prenatal diagnosis Inheritance patternsSLOS is inherited in an autosomal recessive manner which means 2 copies of the abnormal gene must be present for SLOS to develop. Prenatal diagnosisPrenatal testing is available through measurement of 7-dehydrocholesterol levels in tissue obtained from the pregnancy by chorionic villus sampling or by amniocentesis. Molecular genetic (DNA) tests are available if the specific gene mutations that caused the disease in an affected individual can be identified. Carriers may be identified by this method. In theory, preimplantation genetic diagnosis may be possible for some families. Is there support? Information and support in the UK for Smith-Lemli-Opitz syndrome is provided by Metabolic Support UK (previously CLIMB). See entry Inherited Metabolic diseases.
What are the symptoms? The presentation of individuals with SLOS is broad ranging from a less severe disorder with behavioural and learning difficulties to a lethal syndrome with miscarriage, stillbirth or death in the first weeks of life. Individuals often have typical facial features, including microcephaly, a small upturned nose, droopy upper eyelids and micrognathia (undersized jaw). Other abnormalities may include: cleft palate (see entry Cleft Lip and/or Palate)abnormalities of the fingers and toes, including polydactyly (an additional digit) and syndactyly of the second and third toes. (where two or more digits are fused together)abnormalities in development of the heart, kidneys, liver and lungsunderdevelopment of external genitalia occurs in males. In surviving infants, slow growth and poor weight gain is usual and feeding via a gastrostomy (a tube into the stomach) may be required. As the infant gets older, severe learning difficulties (see entry Learning Disability) usually become evident. In addition, individuals with SLOS tend to display hyperactivity, sleep disturbance, autistic-type behaviour (see entry Autism Spectrum conditions) and have a tendency to self-injure. Individuals are very rarely able to live independently. What are the causes? Mutations in the DHCR7 gene result in abnormal sterol metabolism. The DHCR7 gene codes for the DHCR7 enzyme which drives the conversion of 7-dehydrocholesterol to cholesterol. Reduction in the activity of the DHCR7 enzyme leads to increased 7-dehydrocholesterol levels and reduced cholesterol levels leading to the problems seen in SLOS. How is it diagnosed? SLOS is usually first suspected clinically from characteristic features. High levels of 7-dehydrocholesterol in blood or other tissues confirms the diagnosis. This finding is usually specific to SLOS, though borderline cases can be confirmed by genetic studies looking for mutations in the DHCR7 gene. A normal cholesterol level does not exclude SLOS. How is it treated? There is no treatment for SLOS. Dietary cholesterol does not cross into the brain to correct neurodevelopmental deficits though in some individuals, supplementation has been reported to improve growth and behaviour. In less affected cases, simvastatin has been used as it crosses into the brain and lowers 7-deyhydrocholesterol levels but study findings have not shown consistent benefit. Antioxidant supplements may be helpful. Good supportive care remains the mainstay of management. Input is often needed for nutritional management, treatment of sleep disturbances or seizures and management of skin sensitivities and behaviour. Surgical intervention may be needed for placement of a feeding tube or correction of malformations. Future treatment options Gene therapy: Using mouse models for SLOS, functional copies of the DHCR7 gene have been delivered into the brain with an adeno-associated viral vector and shown to partially restore sterol levels. Further work is needed to show functional correction before translation to humans. Substrate reduction: SLOS has been shown to secondarily affect the transport of cholesterol within the cell similar to what is seen in another disorder, Niemann Pick C disease type 1 (NPC1). In NPC1, there is a build-up of glycosphingolipids which are harmful. SLOS cells also show a build-up of glycosphingolipid which increases with disease severity. Miglustat, a substrate reducer can cross into the brain and reduces glycosphingolipid accumulation in NPC1 and also in SLOS cells. It may be a useful adjunctive therapy for SLOS in the future. Inheritance patterns and prenatal diagnosis Inheritance patternsSLOS is inherited in an autosomal recessive manner which means 2 copies of the abnormal gene must be present for SLOS to develop. Prenatal diagnosisPrenatal testing is available through measurement of 7-dehydrocholesterol levels in tissue obtained from the pregnancy by chorionic villus sampling or by amniocentesis. Molecular genetic (DNA) tests are available if the specific gene mutations that caused the disease in an affected individual can be identified. Carriers may be identified by this method. In theory, preimplantation genetic diagnosis may be possible for some families. Is there support? Information and support in the UK for Smith-Lemli-Opitz syndrome is provided by Metabolic Support UK (previously CLIMB). See entry Inherited Metabolic diseases.
What are the symptoms? The presentation of individuals with SLOS is broad ranging from a less severe disorder with behavioural and learning difficulties to a lethal syndrome with miscarriage, stillbirth or death in the first weeks of life. Individuals often have typical facial features, including microcephaly, a small upturned nose, droopy upper eyelids and micrognathia (undersized jaw). Other abnormalities may include: cleft palate (see entry Cleft Lip and/or Palate)abnormalities of the fingers and toes, including polydactyly (an additional digit) and syndactyly of the second and third toes. (where two or more digits are fused together)abnormalities in development of the heart, kidneys, liver and lungsunderdevelopment of external genitalia occurs in males. In surviving infants, slow growth and poor weight gain is usual and feeding via a gastrostomy (a tube into the stomach) may be required. As the infant gets older, severe learning difficulties (see entry Learning Disability) usually become evident. In addition, individuals with SLOS tend to display hyperactivity, sleep disturbance, autistic-type behaviour (see entry Autism Spectrum conditions) and have a tendency to self-injure. Individuals are very rarely able to live independently.
What are the causes? Mutations in the DHCR7 gene result in abnormal sterol metabolism. The DHCR7 gene codes for the DHCR7 enzyme which drives the conversion of 7-dehydrocholesterol to cholesterol. Reduction in the activity of the DHCR7 enzyme leads to increased 7-dehydrocholesterol levels and reduced cholesterol levels leading to the problems seen in SLOS.
How is it diagnosed? SLOS is usually first suspected clinically from characteristic features. High levels of 7-dehydrocholesterol in blood or other tissues confirms the diagnosis. This finding is usually specific to SLOS, though borderline cases can be confirmed by genetic studies looking for mutations in the DHCR7 gene. A normal cholesterol level does not exclude SLOS.
How is it treated? There is no treatment for SLOS. Dietary cholesterol does not cross into the brain to correct neurodevelopmental deficits though in some individuals, supplementation has been reported to improve growth and behaviour. In less affected cases, simvastatin has been used as it crosses into the brain and lowers 7-deyhydrocholesterol levels but study findings have not shown consistent benefit. Antioxidant supplements may be helpful. Good supportive care remains the mainstay of management. Input is often needed for nutritional management, treatment of sleep disturbances or seizures and management of skin sensitivities and behaviour. Surgical intervention may be needed for placement of a feeding tube or correction of malformations. Future treatment options Gene therapy: Using mouse models for SLOS, functional copies of the DHCR7 gene have been delivered into the brain with an adeno-associated viral vector and shown to partially restore sterol levels. Further work is needed to show functional correction before translation to humans. Substrate reduction: SLOS has been shown to secondarily affect the transport of cholesterol within the cell similar to what is seen in another disorder, Niemann Pick C disease type 1 (NPC1). In NPC1, there is a build-up of glycosphingolipids which are harmful. SLOS cells also show a build-up of glycosphingolipid which increases with disease severity. Miglustat, a substrate reducer can cross into the brain and reduces glycosphingolipid accumulation in NPC1 and also in SLOS cells. It may be a useful adjunctive therapy for SLOS in the future.
Inheritance patterns and prenatal diagnosis Inheritance patternsSLOS is inherited in an autosomal recessive manner which means 2 copies of the abnormal gene must be present for SLOS to develop. Prenatal diagnosisPrenatal testing is available through measurement of 7-dehydrocholesterol levels in tissue obtained from the pregnancy by chorionic villus sampling or by amniocentesis. Molecular genetic (DNA) tests are available if the specific gene mutations that caused the disease in an affected individual can be identified. Carriers may be identified by this method. In theory, preimplantation genetic diagnosis may be possible for some families.
Is there support? Information and support in the UK for Smith-Lemli-Opitz syndrome is provided by Metabolic Support UK (previously CLIMB). See entry Inherited Metabolic diseases.
Also known as: Asymmetry Dwarfism; Russell-Silver syndrome; Silver’s syndrome Background Silver-Russell syndrome is a growth disorder characterised by slow growth before and after birth. Babies with Silver-Russell syndrome have a low birth weight and often fail to grow and gain weight at the expected rate (failure to thrive). As adults people with Silver-Russell syndrome will have short stature (height). Credits Last revised February 2015 by Dr R Stanhope, Consultant Paediatric Endocrinologist, The Portland Hospital, London, UK. What are the symptoms? Babies with Silver-Russell syndrome have a low birth weight and fail to thrive as infants. Head growth is normal, however, so the head may appear unusually large compared to the rest of the body. Affected children are thin and have poor appetites, and some develop hypoglycaemia (low blood sugar) as a result of feeding difficulties. Other characteristics may include a short incurved fifth finger, triangular facial features, turned down corners of the mouth, café au lait spots (patches of skin that resemble the colour of coffee and milk) and syndactyly (where two or more digits are fused together). Body asymmetry (one side of the body is larger than the other) is common. In a small minority of cases, mild neurological delay can occur. In the first year of life excessive sweating, particularly at night, is common and may be because of chronic hypoglycaemia. This is extremely important to recognise and may well be the cause of the educational difficulties that have been identified in such children. Life expectancy for somebody with Silver-Russell syndrome is normal. What are the causes? Silver-Russell syndrome has a genetic cause; however, the genetics of this condition are complex. The condition often results from the abnormal regulation of certain genes that control growth. Research has focused on genes located in particular regions of chromosome 7 and chromosome 11. However, around 50% of children with Silver-Russell syndrome have no known genetic abnormality. How is it diagnosed? Silver-Russell syndrome is diagnosed clinically (by a doctor or specialist) based on observation of symptoms. Genetic testing may be used to confirm the diagnosis. How is it treated? Continuous overnight feeds using gastric tubes or gastrostomy (creation of an artificial surgical opening into the stomach for nutritional support) may need to be considered to help a baby that is not putting on weight. Hypoglycaemia will need to be monitored and treatment given if it is a continuing problem. Growth hormone may be given to increase growth – a specialist doctor called an endocrinologist will decide if this is necessary. Psychological support may be required to support a person who feels affected by their short stature. For children with learning difficulties additional educational support may be required. Specialist care from paediatric gastroenterology, orthopaedics and orthodontics is also often required. Inheritance patterns and prenatal diagnosis Inheritance patternsMost cases of Silver-Russell syndrome are sporadic, which means they occur in people with no history of the disorder in their family. Less commonly, Silver-Russell syndrome can run in families. In some affected families, the condition appears to have an autosomal dominant pattern of inheritance. It has been suggested that there is a congenital association between siblings which may result from placental insufficiency. Such placental problems may be hereditary. Prenatal diagnosisThere is no specific diagnostic test that can be used during pregnancy, but a series of ultrasound scans starting from early pregnancy will confirm intra-uterine growth is lower than expected. Is there support? Information and support in the UK for Silver-Russell syndrome is provided by the Child Growth Foundation (see entry Restricted Growth).
What are the symptoms? Babies with Silver-Russell syndrome have a low birth weight and fail to thrive as infants. Head growth is normal, however, so the head may appear unusually large compared to the rest of the body. Affected children are thin and have poor appetites, and some develop hypoglycaemia (low blood sugar) as a result of feeding difficulties. Other characteristics may include a short incurved fifth finger, triangular facial features, turned down corners of the mouth, café au lait spots (patches of skin that resemble the colour of coffee and milk) and syndactyly (where two or more digits are fused together). Body asymmetry (one side of the body is larger than the other) is common. In a small minority of cases, mild neurological delay can occur. In the first year of life excessive sweating, particularly at night, is common and may be because of chronic hypoglycaemia. This is extremely important to recognise and may well be the cause of the educational difficulties that have been identified in such children. Life expectancy for somebody with Silver-Russell syndrome is normal. What are the causes? Silver-Russell syndrome has a genetic cause; however, the genetics of this condition are complex. The condition often results from the abnormal regulation of certain genes that control growth. Research has focused on genes located in particular regions of chromosome 7 and chromosome 11. However, around 50% of children with Silver-Russell syndrome have no known genetic abnormality. How is it diagnosed? Silver-Russell syndrome is diagnosed clinically (by a doctor or specialist) based on observation of symptoms. Genetic testing may be used to confirm the diagnosis. How is it treated? Continuous overnight feeds using gastric tubes or gastrostomy (creation of an artificial surgical opening into the stomach for nutritional support) may need to be considered to help a baby that is not putting on weight. Hypoglycaemia will need to be monitored and treatment given if it is a continuing problem. Growth hormone may be given to increase growth – a specialist doctor called an endocrinologist will decide if this is necessary. Psychological support may be required to support a person who feels affected by their short stature. For children with learning difficulties additional educational support may be required. Specialist care from paediatric gastroenterology, orthopaedics and orthodontics is also often required. Inheritance patterns and prenatal diagnosis Inheritance patternsMost cases of Silver-Russell syndrome are sporadic, which means they occur in people with no history of the disorder in their family. Less commonly, Silver-Russell syndrome can run in families. In some affected families, the condition appears to have an autosomal dominant pattern of inheritance. It has been suggested that there is a congenital association between siblings which may result from placental insufficiency. Such placental problems may be hereditary. Prenatal diagnosisThere is no specific diagnostic test that can be used during pregnancy, but a series of ultrasound scans starting from early pregnancy will confirm intra-uterine growth is lower than expected. Is there support? Information and support in the UK for Silver-Russell syndrome is provided by the Child Growth Foundation (see entry Restricted Growth).
What are the symptoms? Babies with Silver-Russell syndrome have a low birth weight and fail to thrive as infants. Head growth is normal, however, so the head may appear unusually large compared to the rest of the body. Affected children are thin and have poor appetites, and some develop hypoglycaemia (low blood sugar) as a result of feeding difficulties. Other characteristics may include a short incurved fifth finger, triangular facial features, turned down corners of the mouth, café au lait spots (patches of skin that resemble the colour of coffee and milk) and syndactyly (where two or more digits are fused together). Body asymmetry (one side of the body is larger than the other) is common. In a small minority of cases, mild neurological delay can occur. In the first year of life excessive sweating, particularly at night, is common and may be because of chronic hypoglycaemia. This is extremely important to recognise and may well be the cause of the educational difficulties that have been identified in such children. Life expectancy for somebody with Silver-Russell syndrome is normal.
What are the causes? Silver-Russell syndrome has a genetic cause; however, the genetics of this condition are complex. The condition often results from the abnormal regulation of certain genes that control growth. Research has focused on genes located in particular regions of chromosome 7 and chromosome 11. However, around 50% of children with Silver-Russell syndrome have no known genetic abnormality.
How is it diagnosed? Silver-Russell syndrome is diagnosed clinically (by a doctor or specialist) based on observation of symptoms. Genetic testing may be used to confirm the diagnosis.
How is it treated? Continuous overnight feeds using gastric tubes or gastrostomy (creation of an artificial surgical opening into the stomach for nutritional support) may need to be considered to help a baby that is not putting on weight. Hypoglycaemia will need to be monitored and treatment given if it is a continuing problem. Growth hormone may be given to increase growth – a specialist doctor called an endocrinologist will decide if this is necessary. Psychological support may be required to support a person who feels affected by their short stature. For children with learning difficulties additional educational support may be required. Specialist care from paediatric gastroenterology, orthopaedics and orthodontics is also often required.
Inheritance patterns and prenatal diagnosis Inheritance patternsMost cases of Silver-Russell syndrome are sporadic, which means they occur in people with no history of the disorder in their family. Less commonly, Silver-Russell syndrome can run in families. In some affected families, the condition appears to have an autosomal dominant pattern of inheritance. It has been suggested that there is a congenital association between siblings which may result from placental insufficiency. Such placental problems may be hereditary. Prenatal diagnosisThere is no specific diagnostic test that can be used during pregnancy, but a series of ultrasound scans starting from early pregnancy will confirm intra-uterine growth is lower than expected.
Is there support? Information and support in the UK for Silver-Russell syndrome is provided by the Child Growth Foundation (see entry Restricted Growth).
If your child is affected by a medical condition or disability we can help. Call our freephone helpline on 0808 808 3555 to get information, support and advice. You can also browse our range of parent guides on aspects of caring for a disabled child in our resource library. To meet other parents see support groups below or meet other parents online in our closed Facebook group Please see below for reliable medical information on Sickle Cell disorders produced by alternative providers. NHS websitewww.nhs.uk/conditions Although alternative links have been selected with great care, Contact cannot accept responsibility for any inaccuracies or errors. Alternative information providers give details of their quality control procedures on their website, which includes review of information by a qualified medical professional. Is there support? The Sickle Cell Society Email: info@sicklecellsociety.orgWebsite: sicklecellsociety.org The Society is a Registered Charity in England and Wales No. 1046631. It provides information and support to people affected by sickle cell disorders and their carers. The Society offers specialist services and welfare schemes for those affected by sickle cell disorders. Group details last reviewed June 2023. Sickle Cell and Young Stroke Survivors (SCYSS) Tel: 0800 084 2809 or 0207 277 2777Email: info@scyss.orgWebsite: scyss.org SCYSS is a Registered Charity in England and Wales No. 1120902. It provides information and support for children, young people and their families affected by sickle cell anaemia and childhood stroke. Group details last updated June2023. The Hope Project Scotland Tel: 07756 266691Email: via websiteWebsite: thehopeprojectscotland.org.uk The Hope Project Scotland are registered as a charity in Scotland SC047913. They support individuals and families in Scotland affected by Sickle Cell anaemia. Services offered include practical support, advocacy, peer support, workshops and recreation activities. Group details added January 2024.
Is there support? The Sickle Cell Society Email: info@sicklecellsociety.orgWebsite: sicklecellsociety.org The Society is a Registered Charity in England and Wales No. 1046631. It provides information and support to people affected by sickle cell disorders and their carers. The Society offers specialist services and welfare schemes for those affected by sickle cell disorders. Group details last reviewed June 2023. Sickle Cell and Young Stroke Survivors (SCYSS) Tel: 0800 084 2809 or 0207 277 2777Email: info@scyss.orgWebsite: scyss.org SCYSS is a Registered Charity in England and Wales No. 1120902. It provides information and support for children, young people and their families affected by sickle cell anaemia and childhood stroke. Group details last updated June2023. The Hope Project Scotland Tel: 07756 266691Email: via websiteWebsite: thehopeprojectscotland.org.uk The Hope Project Scotland are registered as a charity in Scotland SC047913. They support individuals and families in Scotland affected by Sickle Cell anaemia. Services offered include practical support, advocacy, peer support, workshops and recreation activities. Group details added January 2024.
Is there support? The Sickle Cell Society Email: info@sicklecellsociety.orgWebsite: sicklecellsociety.org The Society is a Registered Charity in England and Wales No. 1046631. It provides information and support to people affected by sickle cell disorders and their carers. The Society offers specialist services and welfare schemes for those affected by sickle cell disorders. Group details last reviewed June 2023. Sickle Cell and Young Stroke Survivors (SCYSS) Tel: 0800 084 2809 or 0207 277 2777Email: info@scyss.orgWebsite: scyss.org SCYSS is a Registered Charity in England and Wales No. 1120902. It provides information and support for children, young people and their families affected by sickle cell anaemia and childhood stroke. Group details last updated June2023. The Hope Project Scotland Tel: 07756 266691Email: via websiteWebsite: thehopeprojectscotland.org.uk The Hope Project Scotland are registered as a charity in Scotland SC047913. They support individuals and families in Scotland affected by Sickle Cell anaemia. Services offered include practical support, advocacy, peer support, workshops and recreation activities. Group details added January 2024.
Also known as: Shwachman syndrome Overview Shwachman-Diamond syndrome is a rare genetic condition. Children may have a defective pancreas that fails to secrete digestive enzymes, poor growth and are prone to infection and haematological (blood) disorders. There are also bony difficulties with metaphyseal dysplasia (abnormalities of long bone growth). Thrombocytopaenia (low platelet count), is the most common blood problem, and may mean that there is an increased risk of bleeding. In around half of those affected, mild-to-moderate Learning Disability is present. Problems may be experienced with digestion, but these tend to improve as the child gets older. Mutations in the SBDS gene have been identified in some people with the syndrome. Diagnosis requires investigation by a gastroenterologist (a specialist in problems with the gastrointestinal tract) and haematologist. Management of the condition includes pancreatic enzyme replacement and multi-vitamin supplements. Antibiotics may be given to prevent infection and increased when infections occur. Bone problems may need to be assessed by an orthopaedic specialist (a specialist in bone problems). As this is a genetic condition, affected families should be referred to a genetics centre for information and advice. This overview is intended to be a basic description of the condition. It is not intended to replace specialist medical advice. We advise that you discuss your child’s case with a qualified medical professional who will be able to give you more detailed information. Credits Medical text approved December 2012 by Dr Jenny Fisken (retired), formerly Associate Specialist in Community Paediatrics, North Yorkshire and York PCT. Is there support? There is no support group for Shwachman-Diamond syndrome in the UK. Families can use Contact’s freephone helpline for advice, information and, where possible, links to other families. To meet other families with disabled children, join Contact’s closed (private) Facebook group.
Is there support? There is no support group for Shwachman-Diamond syndrome in the UK. Families can use Contact’s freephone helpline for advice, information and, where possible, links to other families. To meet other families with disabled children, join Contact’s closed (private) Facebook group.
Is there support? There is no support group for Shwachman-Diamond syndrome in the UK. Families can use Contact’s freephone helpline for advice, information and, where possible, links to other families. To meet other families with disabled children, join Contact’s closed (private) Facebook group.
Also known as: De Morsier’s syndrome Overview Septo-optic dysplasia (SOD) has three common features: abnormal development of structures separating right and left halves of the brain, hypoplasia (underdevelopment) of pituitary gland and optic nerves. The pituitary releases hormones (chemical messages) including growth hormone. Those affected may be short, have learning disability, neurological problems and impaired vision. Other pituitary hormones may be affected; those controlling puberty, thyroid stimulating hormone and ACTH, which stimulates release of the stress hormone cortisol and vasopressin that retains water in the body lack resulting in too much urine and dehydration. Diagnosis is based on features and brain imaging. Management may involve growth hormone replacement. Vision aids may be needed. Some rare forms of SOD have been associated with genetic mutations, but most are sporadic (no family history). Affected families should be referred to a genetics centre for information and support. This overview is intended to be a basic description of the condition. It is not intended to replace specialist medical advice. We advise that you discuss your child’s case with a qualified medical professional who will be able to give you more detailed information. Credits Medical text approved November 2012 by Miss Isabelle Russell-Eggitt, Contact a Family Medical Advisory Panel. Is there support? There is no support group for Septo-optic dysplasia in the UK. Families can use Contact’s freephone helpline for advice, information and, where possible, links to other families. To meet other families with disabled children, join Contact’s closed (private) Facebook group.
Is there support? There is no support group for Septo-optic dysplasia in the UK. Families can use Contact’s freephone helpline for advice, information and, where possible, links to other families. To meet other families with disabled children, join Contact’s closed (private) Facebook group.
Is there support? There is no support group for Septo-optic dysplasia in the UK. Families can use Contact’s freephone helpline for advice, information and, where possible, links to other families. To meet other families with disabled children, join Contact’s closed (private) Facebook group.
Background A crucial diagnostic element of selective mutism (SM) is that the child has the ability to both comprehend spoken language and to speak, but yet fails to do so in select settings. Children with SM persistently lack the ability to speak in some settings (eg school) but not in others (eg home). In children, SM is a passing phase and the ability to communicate in all settings is regained by some. SM may, however, continue throughout adolescence and prevent the young person from acquiring age-appropriate social skills. Credits Medical text written July 2002 by Contact a Family. Approved July 2002 by Alice Sluckin. Last updated September 2010 by Alice Sluckin, Senior Psychiatric Social Worker and Honorary Visiting Fellow (Retired formerly of the School of Psychology, University of Leicester, Leicester, UK). What are the symptoms? SM may affect a child’s ability to talk with specific members of the immediate family at home as well as teachers or peers at school or in other social situations. Children respond or make their needs known by nodding their heads, pointing or remaining expressionless or motionless until someone correctly guesses what they want. SM may affect a child’s educational performance, but progress at school may not be impeded in those situations where speaking is not required. What are the causes? SM is often not recognised because a child’s behaviour is attributed to shyness or embarrassment. In the past, there was a tendency to perceive SM children as stubborn and oppositional. More recent research, however, indicates that in most cases SM is the result of crippling anxiety. Stressful early experiences, a clash of cultures between home and school, language difficulties, and/or unaccustomed expectations at school, may predispose a child to SM. When under stress, children may become physically rigid and eye-contact increases their discomfort. Children may have the desire to speak but are over-come by ‘stage-fright’ and hence remain silent. In some cases, SM is known to be preceded by delayed milestones and speech and language difficulties (see entry Speech and Language Impairment). A psychological assessment may be useful to exclude the presence of learning difficulties (see entry Learning Disability. The usual onset of SM is around three to five years of age, when a child enters a play-group or nursery school. SM may commence later after a trauma or post operatively, and is then known as ‘traumatic mutism. How is it treated? Treatment is more likely to be successful if started early before the child assumes a ‘non-speaking identity.’ The most effective way of helping can be through a programme in which teachers and parents participate. Such a programme is based on a ‘step-by-step’ approach which aims at reducing the child’s anxiety about speaking through a technique known as ‘stimulus fading.’ This involves moving the child by manageable small steps from a situation where there has been no speech to a situation where there is speech. The child’s cooperation is essential and is gained by making the exercise enjoyable and rewarding. Inheritance patterns and prenatal diagnosis Inheritance patternsAlthough SM may occur in any family, there may be a familiar component in some families. Prenatal diagnosisNot applicable. Is there support? SMIRA (Selective Mutism Information & Research Association) Email: via websiteWebsite: selectivemutism.org.uk The Association is a Registered Charity in England and Wales No. 1022673. It provides information and support to families affected by selective mutism. Group details last updated January 2018.
What are the symptoms? SM may affect a child’s ability to talk with specific members of the immediate family at home as well as teachers or peers at school or in other social situations. Children respond or make their needs known by nodding their heads, pointing or remaining expressionless or motionless until someone correctly guesses what they want. SM may affect a child’s educational performance, but progress at school may not be impeded in those situations where speaking is not required. What are the causes? SM is often not recognised because a child’s behaviour is attributed to shyness or embarrassment. In the past, there was a tendency to perceive SM children as stubborn and oppositional. More recent research, however, indicates that in most cases SM is the result of crippling anxiety. Stressful early experiences, a clash of cultures between home and school, language difficulties, and/or unaccustomed expectations at school, may predispose a child to SM. When under stress, children may become physically rigid and eye-contact increases their discomfort. Children may have the desire to speak but are over-come by ‘stage-fright’ and hence remain silent. In some cases, SM is known to be preceded by delayed milestones and speech and language difficulties (see entry Speech and Language Impairment). A psychological assessment may be useful to exclude the presence of learning difficulties (see entry Learning Disability. The usual onset of SM is around three to five years of age, when a child enters a play-group or nursery school. SM may commence later after a trauma or post operatively, and is then known as ‘traumatic mutism. How is it treated? Treatment is more likely to be successful if started early before the child assumes a ‘non-speaking identity.’ The most effective way of helping can be through a programme in which teachers and parents participate. Such a programme is based on a ‘step-by-step’ approach which aims at reducing the child’s anxiety about speaking through a technique known as ‘stimulus fading.’ This involves moving the child by manageable small steps from a situation where there has been no speech to a situation where there is speech. The child’s cooperation is essential and is gained by making the exercise enjoyable and rewarding. Inheritance patterns and prenatal diagnosis Inheritance patternsAlthough SM may occur in any family, there may be a familiar component in some families. Prenatal diagnosisNot applicable. Is there support? SMIRA (Selective Mutism Information & Research Association) Email: via websiteWebsite: selectivemutism.org.uk The Association is a Registered Charity in England and Wales No. 1022673. It provides information and support to families affected by selective mutism. Group details last updated January 2018.
What are the symptoms? SM may affect a child’s ability to talk with specific members of the immediate family at home as well as teachers or peers at school or in other social situations. Children respond or make their needs known by nodding their heads, pointing or remaining expressionless or motionless until someone correctly guesses what they want. SM may affect a child’s educational performance, but progress at school may not be impeded in those situations where speaking is not required.
What are the causes? SM is often not recognised because a child’s behaviour is attributed to shyness or embarrassment. In the past, there was a tendency to perceive SM children as stubborn and oppositional. More recent research, however, indicates that in most cases SM is the result of crippling anxiety. Stressful early experiences, a clash of cultures between home and school, language difficulties, and/or unaccustomed expectations at school, may predispose a child to SM. When under stress, children may become physically rigid and eye-contact increases their discomfort. Children may have the desire to speak but are over-come by ‘stage-fright’ and hence remain silent. In some cases, SM is known to be preceded by delayed milestones and speech and language difficulties (see entry Speech and Language Impairment). A psychological assessment may be useful to exclude the presence of learning difficulties (see entry Learning Disability. The usual onset of SM is around three to five years of age, when a child enters a play-group or nursery school. SM may commence later after a trauma or post operatively, and is then known as ‘traumatic mutism.
How is it treated? Treatment is more likely to be successful if started early before the child assumes a ‘non-speaking identity.’ The most effective way of helping can be through a programme in which teachers and parents participate. Such a programme is based on a ‘step-by-step’ approach which aims at reducing the child’s anxiety about speaking through a technique known as ‘stimulus fading.’ This involves moving the child by manageable small steps from a situation where there has been no speech to a situation where there is speech. The child’s cooperation is essential and is gained by making the exercise enjoyable and rewarding.
Inheritance patterns and prenatal diagnosis Inheritance patternsAlthough SM may occur in any family, there may be a familiar component in some families. Prenatal diagnosisNot applicable.
Is there support? SMIRA (Selective Mutism Information & Research Association) Email: via websiteWebsite: selectivemutism.org.uk The Association is a Registered Charity in England and Wales No. 1022673. It provides information and support to families affected by selective mutism. Group details last updated January 2018.
Also known as: Crooked Spine Background The spinal column has natural curves which gives roundness to shoulders/chest (thoracic kyphosis) and makes our lower back curve slightly inwards (lumbar lordosis) when viewed from the side. When seen from the back, the spine should normally be straight with the head in line with the middle of the pelvis. However, some people may have curves from side to side and this condition of sideward bend in the spine is called scoliosis. The terminology is derived from Greek word skolios meaning crooked. The spine can look either like an ‘S’ or ‘C’. The prevalence of scoliosis measuring more than 10 degrees is 2 to 3 per cent, but only 3 in 1,000 (0.3 per cent) have curves more than 20 degrees. While the incidence is roughly equal in boys and girls for small curves, girls have 10 times the risk of developing curves more than 30 degrees. Credits Medical text written December 2010 by Mr NS Harshavardhana, Clinical Spinal Fellow and Mr CI Adams, Consultant Spinal Surgeon, Scottish National Spinal Deformity Service, Edinburgh, UK. Also reviewed by Mr DE Porter, Consultant Orthopaedic Surgeon, Royal Infirmary of Edinburgh, Edinburgh and the Royal Hospital for Sick Children, Edinburgh, UK. What are the symptoms? Scoliosis is a descriptive term and not a diagnosis. It is a complex three-dimensional deformity of the spine and is often accompanied by bending and twisting of bones resulting in prominence of the ribs (rib hump) with uneven shoulders and asymmetry in size or location of breasts. There may also be waistline asymmetry/flank fullness with trunkal shift to one side. Children and adolescents with scoliosis are often pain-free, although pain may require further investigation. It is usually detected incidentally by parents, friends, PE instructor or ballet teacher. It is also commonly noticed in summer holidays when the prominent shoulder blade or uneven waistline is obvious in swimsuits. What are the causes? In 80 per cent of instances no specific cause is found and such cases are termed as idiopathic. The most common type of scoliosis is the one that develops during adolescence (10-14 years of age) and hence termed adolescent idiopathic scoliosis (AIS). AIS constitutes 70 per cent of all scoliosis cases. In a small proportion of cases, scoliosis could be due to birth defects (congenital scoliosis), muscle imbalance or neurological causes (neuro-muscular scoliosis) and as a part of syndrome (i.e. neurofibromatosis or Marfan syndrome). A total of 30 per cent of AIS patients have a family history of scoliosis and there seems to be a genetic connection. Research is ongoing in this area and there are many genes associated with scoliosis. It is also likely that these genes may be helpful in detecting and determining the risk of progression of the curve with growth. There is no definite inheritance pattern in scoliosis and it could best be described as being multi-factorial. How is it diagnosed? Initial assessment and diagnosis is usually done by a specialist who does a detailed examination of the back and nervous system. Standing X-rays in two planes (two different types of view: from the front (AP) and the sides (lateral)) from neck to pelvis are obtained and angle of curve is measured (Cobb angle). Some specialist centres may also get further tests at this stage such as an ISIS scan. An ISIS scan is a technique that allows the assessment of the surface shape of the back in three dimensions. Magnetic resonance imaging and (MRI) and computed tomography (CT) scans may also be required. How is it treated? The treatment options for scoliosis fall into three main categories: ObservationThis is for small curves (less than 20 to 25 degrees) especially in growing years (under 10 years old), or for moderate curves (less than 40 to 45 degrees) when growth is completed and involves monitoring the curve and any associated problems carefully. In adults with small/moderate curves, physical therapy and exercises for those patients who have mild symptoms is recommended initially. BracingThis is for curves between 25 and 45 degrees in growing children to prevent worsening of the curve with growth. The brace acts as an external scaffold directing the spine in the desired direction as the spinal column lengthens. Braces cannot correct curves. SurgeryThis is reserved for curves which are generally greater than 50 degrees in adolescents and adults. Surgery can be performed for moderate curves if it is cosmetically unacceptable or for associated symptoms (pain or weakness). The goals of surgical treatment are to obtain curve correction and correct asymmetry and rib hump. This is usually achieved by placing metal implants (screws/hooks and rods), which hold the spine in corrected position until fusion (knitting of the spinal elements together) occurs. Inheritance patterns and prenatal diagnosis Inheritance patternsThere is no definite inheritance pattern in most types of scoliosis and it could best be described as being multi-factorial; any pattern of inheritance will depend upon the disorder concerned. Prenatal diagnosisNone, except where specific conditions are concerned, for example, in spina bifida where amniocentesis at 16 weeks is used. Ultrasound scanning can also identify spinal cord and vertebral defects. Is there support? Scoliosis Association (UK) (SAUK) Helpline: 020 8964 1166 Email: info@sauk.org.ukWebsite: sauk.org.uk The Association is a Registered Charity in England and Wales No. 285290. It provides information and support to people with scoliosis and other spinal conditions including kyphosis and lordosis. Members have access to the scoliosis contacts network, the online forum and local support through Regional Representatives. Group details last updated December 2014.
What are the symptoms? Scoliosis is a descriptive term and not a diagnosis. It is a complex three-dimensional deformity of the spine and is often accompanied by bending and twisting of bones resulting in prominence of the ribs (rib hump) with uneven shoulders and asymmetry in size or location of breasts. There may also be waistline asymmetry/flank fullness with trunkal shift to one side. Children and adolescents with scoliosis are often pain-free, although pain may require further investigation. It is usually detected incidentally by parents, friends, PE instructor or ballet teacher. It is also commonly noticed in summer holidays when the prominent shoulder blade or uneven waistline is obvious in swimsuits. What are the causes? In 80 per cent of instances no specific cause is found and such cases are termed as idiopathic. The most common type of scoliosis is the one that develops during adolescence (10-14 years of age) and hence termed adolescent idiopathic scoliosis (AIS). AIS constitutes 70 per cent of all scoliosis cases. In a small proportion of cases, scoliosis could be due to birth defects (congenital scoliosis), muscle imbalance or neurological causes (neuro-muscular scoliosis) and as a part of syndrome (i.e. neurofibromatosis or Marfan syndrome). A total of 30 per cent of AIS patients have a family history of scoliosis and there seems to be a genetic connection. Research is ongoing in this area and there are many genes associated with scoliosis. It is also likely that these genes may be helpful in detecting and determining the risk of progression of the curve with growth. There is no definite inheritance pattern in scoliosis and it could best be described as being multi-factorial. How is it diagnosed? Initial assessment and diagnosis is usually done by a specialist who does a detailed examination of the back and nervous system. Standing X-rays in two planes (two different types of view: from the front (AP) and the sides (lateral)) from neck to pelvis are obtained and angle of curve is measured (Cobb angle). Some specialist centres may also get further tests at this stage such as an ISIS scan. An ISIS scan is a technique that allows the assessment of the surface shape of the back in three dimensions. Magnetic resonance imaging and (MRI) and computed tomography (CT) scans may also be required. How is it treated? The treatment options for scoliosis fall into three main categories: ObservationThis is for small curves (less than 20 to 25 degrees) especially in growing years (under 10 years old), or for moderate curves (less than 40 to 45 degrees) when growth is completed and involves monitoring the curve and any associated problems carefully. In adults with small/moderate curves, physical therapy and exercises for those patients who have mild symptoms is recommended initially. BracingThis is for curves between 25 and 45 degrees in growing children to prevent worsening of the curve with growth. The brace acts as an external scaffold directing the spine in the desired direction as the spinal column lengthens. Braces cannot correct curves. SurgeryThis is reserved for curves which are generally greater than 50 degrees in adolescents and adults. Surgery can be performed for moderate curves if it is cosmetically unacceptable or for associated symptoms (pain or weakness). The goals of surgical treatment are to obtain curve correction and correct asymmetry and rib hump. This is usually achieved by placing metal implants (screws/hooks and rods), which hold the spine in corrected position until fusion (knitting of the spinal elements together) occurs. Inheritance patterns and prenatal diagnosis Inheritance patternsThere is no definite inheritance pattern in most types of scoliosis and it could best be described as being multi-factorial; any pattern of inheritance will depend upon the disorder concerned. Prenatal diagnosisNone, except where specific conditions are concerned, for example, in spina bifida where amniocentesis at 16 weeks is used. Ultrasound scanning can also identify spinal cord and vertebral defects. Is there support? Scoliosis Association (UK) (SAUK) Helpline: 020 8964 1166 Email: info@sauk.org.ukWebsite: sauk.org.uk The Association is a Registered Charity in England and Wales No. 285290. It provides information and support to people with scoliosis and other spinal conditions including kyphosis and lordosis. Members have access to the scoliosis contacts network, the online forum and local support through Regional Representatives. Group details last updated December 2014.
What are the symptoms? Scoliosis is a descriptive term and not a diagnosis. It is a complex three-dimensional deformity of the spine and is often accompanied by bending and twisting of bones resulting in prominence of the ribs (rib hump) with uneven shoulders and asymmetry in size or location of breasts. There may also be waistline asymmetry/flank fullness with trunkal shift to one side. Children and adolescents with scoliosis are often pain-free, although pain may require further investigation. It is usually detected incidentally by parents, friends, PE instructor or ballet teacher. It is also commonly noticed in summer holidays when the prominent shoulder blade or uneven waistline is obvious in swimsuits.
What are the causes? In 80 per cent of instances no specific cause is found and such cases are termed as idiopathic. The most common type of scoliosis is the one that develops during adolescence (10-14 years of age) and hence termed adolescent idiopathic scoliosis (AIS). AIS constitutes 70 per cent of all scoliosis cases. In a small proportion of cases, scoliosis could be due to birth defects (congenital scoliosis), muscle imbalance or neurological causes (neuro-muscular scoliosis) and as a part of syndrome (i.e. neurofibromatosis or Marfan syndrome). A total of 30 per cent of AIS patients have a family history of scoliosis and there seems to be a genetic connection. Research is ongoing in this area and there are many genes associated with scoliosis. It is also likely that these genes may be helpful in detecting and determining the risk of progression of the curve with growth. There is no definite inheritance pattern in scoliosis and it could best be described as being multi-factorial.
How is it diagnosed? Initial assessment and diagnosis is usually done by a specialist who does a detailed examination of the back and nervous system. Standing X-rays in two planes (two different types of view: from the front (AP) and the sides (lateral)) from neck to pelvis are obtained and angle of curve is measured (Cobb angle). Some specialist centres may also get further tests at this stage such as an ISIS scan. An ISIS scan is a technique that allows the assessment of the surface shape of the back in three dimensions. Magnetic resonance imaging and (MRI) and computed tomography (CT) scans may also be required.
How is it treated? The treatment options for scoliosis fall into three main categories: ObservationThis is for small curves (less than 20 to 25 degrees) especially in growing years (under 10 years old), or for moderate curves (less than 40 to 45 degrees) when growth is completed and involves monitoring the curve and any associated problems carefully. In adults with small/moderate curves, physical therapy and exercises for those patients who have mild symptoms is recommended initially. BracingThis is for curves between 25 and 45 degrees in growing children to prevent worsening of the curve with growth. The brace acts as an external scaffold directing the spine in the desired direction as the spinal column lengthens. Braces cannot correct curves. SurgeryThis is reserved for curves which are generally greater than 50 degrees in adolescents and adults. Surgery can be performed for moderate curves if it is cosmetically unacceptable or for associated symptoms (pain or weakness). The goals of surgical treatment are to obtain curve correction and correct asymmetry and rib hump. This is usually achieved by placing metal implants (screws/hooks and rods), which hold the spine in corrected position until fusion (knitting of the spinal elements together) occurs.
Inheritance patterns and prenatal diagnosis Inheritance patternsThere is no definite inheritance pattern in most types of scoliosis and it could best be described as being multi-factorial; any pattern of inheritance will depend upon the disorder concerned. Prenatal diagnosisNone, except where specific conditions are concerned, for example, in spina bifida where amniocentesis at 16 weeks is used. Ultrasound scanning can also identify spinal cord and vertebral defects.
Is there support? Scoliosis Association (UK) (SAUK) Helpline: 020 8964 1166 Email: info@sauk.org.ukWebsite: sauk.org.uk The Association is a Registered Charity in England and Wales No. 285290. It provides information and support to people with scoliosis and other spinal conditions including kyphosis and lordosis. Members have access to the scoliosis contacts network, the online forum and local support through Regional Representatives. Group details last updated December 2014.
Background Scleroderma (hard skin) is a disease of the connective tissue, immune system and blood vessels with its onset being highest in the fourth and fifth decade of life and it is more common in women than men. Although it typically presents with tautness and discoloration of the affected skin, it may also affect the internal organs such as the heart, lungs, kidneys and gastrointestinal tract. Credits Medical text written October 2010 by Dr Voon H Ong, Consultant Rheumatologist, Royal Free Hospital, London, UK. What are the symptoms? Scleroderma (or Systemic Sclerosis also known as SSc) is broadly divided into Localised form meaning that it affects small areas of the skin, such as Morphoea or Linear Scleroderma and Systemic form, which affects multiple body systems. The systemic form of SSc is further divided into two major groups based on extent of the skin affected. Diffuse Cutaneous SSc has widespread skin involvement and the second type, Limited Cutaneous SSc affects the skin over the hands, lower arms, feet, lower legs and face. The limited type is approximately five times more common than the diffuse type. In the diffuse type of SSc, internal organs may be affected early on in the illness. In the limited form, the major problems tend to occur later and the gut (bloating, diarrhoea and incontinence) and lung (usually Pulmonary Hypertension with raised blood pressure within the major vessels from the lung to the heart) may be affected. In addition, there may be calcinosis (deposits of calcium which mass under the skin and protrude), dry eyes and mouth, ulceration and Raynaud’s disease (see entry Raynaud’s Phenomenon). Juvenile Scleroderma differs from the adult disease in that localised forms predominate. The juvenile disease attacks particularly the skin, muscles, joints, tendons and bones, with internal organ involvement a rarity. Childhood Morphoea may last for several years then resolve spontaneously, but the linear form may lead to growth defects, which require immediate treatment including physiotherapy. What are the causes? The precise causes for the illness are unclear but the scarring process that occurs in SSc is shared by other conditions such as Keloids (excessive skin scarring in response to injury) and Liver Cirrhosis. How is it diagnosed? The condition is diagnosed on the symptoms and clinical examination. The diagnosis may be supported by further investigations including blood tests for specific antibodies and where available, specialised imaging studies for abnormal nail-fold blood vessels formation with capillaroscopy may be helpful. How is it treated? Currently, the approach in treating the condition is aimed at the affected organs. For example, there are effective drugs to improve the circulation for Raynaud’s disease. Topical treatments for skin include moisturisers to prevent dryness and cuts. A multidisciplinary approach with multiple specialists including rheumatologist is required as SSc tends to involve several different organ systems. Children with SSc will be treated by either a paediatric dermatologist or rheumatologist together with multi disciplinary team. There are specific treatments available for Pulmonary Hypertension and it is therefore important that these complications are detected early on with regular investigations with Echocardiogram (EGC − a type heart scan) and lung function tests. Specific treatments for the kidney disease can be life saving. Other treatments are also available for the gut and lung problems. Inheritance patterns and prenatal diagnosis Inheritance patternsNone. Prenatal diagnosisNone. Is there support? Scleroderma and Raynaud’s UK (SRUK) Tel: 020 3893 5998Helpline: 0800 311 2756Email: info@sruk.co.ukWebsite: sruk.co.uk SRUK are a Registered Charity in England and Wales No.1161828. They provide information and support to those affected by scleroderma or Raynaud’s and they aim to raise awareness and understanding of these conditions. Group details added October 2017.
What are the symptoms? Scleroderma (or Systemic Sclerosis also known as SSc) is broadly divided into Localised form meaning that it affects small areas of the skin, such as Morphoea or Linear Scleroderma and Systemic form, which affects multiple body systems. The systemic form of SSc is further divided into two major groups based on extent of the skin affected. Diffuse Cutaneous SSc has widespread skin involvement and the second type, Limited Cutaneous SSc affects the skin over the hands, lower arms, feet, lower legs and face. The limited type is approximately five times more common than the diffuse type. In the diffuse type of SSc, internal organs may be affected early on in the illness. In the limited form, the major problems tend to occur later and the gut (bloating, diarrhoea and incontinence) and lung (usually Pulmonary Hypertension with raised blood pressure within the major vessels from the lung to the heart) may be affected. In addition, there may be calcinosis (deposits of calcium which mass under the skin and protrude), dry eyes and mouth, ulceration and Raynaud’s disease (see entry Raynaud’s Phenomenon). Juvenile Scleroderma differs from the adult disease in that localised forms predominate. The juvenile disease attacks particularly the skin, muscles, joints, tendons and bones, with internal organ involvement a rarity. Childhood Morphoea may last for several years then resolve spontaneously, but the linear form may lead to growth defects, which require immediate treatment including physiotherapy. What are the causes? The precise causes for the illness are unclear but the scarring process that occurs in SSc is shared by other conditions such as Keloids (excessive skin scarring in response to injury) and Liver Cirrhosis. How is it diagnosed? The condition is diagnosed on the symptoms and clinical examination. The diagnosis may be supported by further investigations including blood tests for specific antibodies and where available, specialised imaging studies for abnormal nail-fold blood vessels formation with capillaroscopy may be helpful. How is it treated? Currently, the approach in treating the condition is aimed at the affected organs. For example, there are effective drugs to improve the circulation for Raynaud’s disease. Topical treatments for skin include moisturisers to prevent dryness and cuts. A multidisciplinary approach with multiple specialists including rheumatologist is required as SSc tends to involve several different organ systems. Children with SSc will be treated by either a paediatric dermatologist or rheumatologist together with multi disciplinary team. There are specific treatments available for Pulmonary Hypertension and it is therefore important that these complications are detected early on with regular investigations with Echocardiogram (EGC − a type heart scan) and lung function tests. Specific treatments for the kidney disease can be life saving. Other treatments are also available for the gut and lung problems. Inheritance patterns and prenatal diagnosis Inheritance patternsNone. Prenatal diagnosisNone. Is there support? Scleroderma and Raynaud’s UK (SRUK) Tel: 020 3893 5998Helpline: 0800 311 2756Email: info@sruk.co.ukWebsite: sruk.co.uk SRUK are a Registered Charity in England and Wales No.1161828. They provide information and support to those affected by scleroderma or Raynaud’s and they aim to raise awareness and understanding of these conditions. Group details added October 2017.
What are the symptoms? Scleroderma (or Systemic Sclerosis also known as SSc) is broadly divided into Localised form meaning that it affects small areas of the skin, such as Morphoea or Linear Scleroderma and Systemic form, which affects multiple body systems. The systemic form of SSc is further divided into two major groups based on extent of the skin affected. Diffuse Cutaneous SSc has widespread skin involvement and the second type, Limited Cutaneous SSc affects the skin over the hands, lower arms, feet, lower legs and face. The limited type is approximately five times more common than the diffuse type. In the diffuse type of SSc, internal organs may be affected early on in the illness. In the limited form, the major problems tend to occur later and the gut (bloating, diarrhoea and incontinence) and lung (usually Pulmonary Hypertension with raised blood pressure within the major vessels from the lung to the heart) may be affected. In addition, there may be calcinosis (deposits of calcium which mass under the skin and protrude), dry eyes and mouth, ulceration and Raynaud’s disease (see entry Raynaud’s Phenomenon). Juvenile Scleroderma differs from the adult disease in that localised forms predominate. The juvenile disease attacks particularly the skin, muscles, joints, tendons and bones, with internal organ involvement a rarity. Childhood Morphoea may last for several years then resolve spontaneously, but the linear form may lead to growth defects, which require immediate treatment including physiotherapy.
What are the causes? The precise causes for the illness are unclear but the scarring process that occurs in SSc is shared by other conditions such as Keloids (excessive skin scarring in response to injury) and Liver Cirrhosis.
How is it diagnosed? The condition is diagnosed on the symptoms and clinical examination. The diagnosis may be supported by further investigations including blood tests for specific antibodies and where available, specialised imaging studies for abnormal nail-fold blood vessels formation with capillaroscopy may be helpful.
How is it treated? Currently, the approach in treating the condition is aimed at the affected organs. For example, there are effective drugs to improve the circulation for Raynaud’s disease. Topical treatments for skin include moisturisers to prevent dryness and cuts. A multidisciplinary approach with multiple specialists including rheumatologist is required as SSc tends to involve several different organ systems. Children with SSc will be treated by either a paediatric dermatologist or rheumatologist together with multi disciplinary team. There are specific treatments available for Pulmonary Hypertension and it is therefore important that these complications are detected early on with regular investigations with Echocardiogram (EGC − a type heart scan) and lung function tests. Specific treatments for the kidney disease can be life saving. Other treatments are also available for the gut and lung problems.
Is there support? Scleroderma and Raynaud’s UK (SRUK) Tel: 020 3893 5998Helpline: 0800 311 2756Email: info@sruk.co.ukWebsite: sruk.co.uk SRUK are a Registered Charity in England and Wales No.1161828. They provide information and support to those affected by scleroderma or Raynaud’s and they aim to raise awareness and understanding of these conditions. Group details added October 2017.
If your child is affected by a medical condition or disability we can help. Call our freephone helpline on 0808 808 3555 to get information, support and advice. You can also browse our range of parent guides on aspects of caring for a disabled child in our resource library. To meet other parents see support groups below or meet other parents online in our closed Facebook group Please see below for reliable medical information on Schizophrenia produced by alternative providers. NHS websitewww.nhs.uk/conditions Although alternative links have been selected with great care, Contact cannot accept responsibility for any inaccuracies or errors. Alternative information providers give details of their quality control procedures on their website, which includes review of information by a qualified medical professional. Is there support? As Schizophrenia is a mental illness, support and advice is available from a number of other organisations (see entry Mental Health).
Is there support? As Schizophrenia is a mental illness, support and advice is available from a number of other organisations (see entry Mental Health).
Is there support? As Schizophrenia is a mental illness, support and advice is available from a number of other organisations (see entry Mental Health).
If your child is affected by a disability or medical condition we can help. Call our freephone helpline on 0808 808 3555 to get information, support and advice. You can also browse our range of parent guides on aspects of caring for a disabled child in our resource library. To meet other parents see support groups below or meet other parents online in our closed Facebook group Please see below for reliable medical information on Sarcoidosis produced by alternative providers. NHS websitewww.nhs.uk/conditions Although alternative links have been selected with great care, Contact cannot accept responsibility for any inaccuracies or errors. Alternative information providers give details of their quality control procedures on their website, which includes review of information by a qualified medical professional. Is there support? SarcoidosisUK Tel: 0203 389 7221Email: info@sarcoidosisuk.orgWebsite: sarcoidosisuk.org SarcoidosisUK is a Registered Charity in England and Wales No. 1063986. It offers support and information to individuals affected by Sarcoidosis, their families, carers and professionals. Group details last reviewed June 2023.
Is there support? SarcoidosisUK Tel: 0203 389 7221Email: info@sarcoidosisuk.orgWebsite: sarcoidosisuk.org SarcoidosisUK is a Registered Charity in England and Wales No. 1063986. It offers support and information to individuals affected by Sarcoidosis, their families, carers and professionals. Group details last reviewed June 2023.
Is there support? SarcoidosisUK Tel: 0203 389 7221Email: info@sarcoidosisuk.orgWebsite: sarcoidosisuk.org SarcoidosisUK is a Registered Charity in England and Wales No. 1063986. It offers support and information to individuals affected by Sarcoidosis, their families, carers and professionals. Group details last reviewed June 2023.
Background The sacrum is a bone at the base of the spinal column that is formed following the fusion of five vertebrae. It sits near the top of the buttocks and just below is another small series of bones called the coccyx. Nerves from the spinal cord pass through a bony canal within the sacrum and exit the sacrum in a number of places to provide nerve supply to the bowel, anus, bladder, and to the muscles and sensory organs in the lower limbs. Sacral agenesis is a condition that exists when either part or all of the sacrum is missing. It is possible for two of the five sacral segments to be missing without causing problems. If three or more of the sacral segments are missing, there is likely to be some abnormality of the nerves coming out of the sacrum. Sacral agenesis may occur in isolation or be associated with other abnormalities -such as problems with the development of the anus, rectum or the bones or joints of the lower limb. Credits Medical text written May 2001 by Mr P Malone. Last updated January 2018 by Mr Feilim Murphy, Consultant Paediatric Urologist, St George’s Hospital, London UK. Although great care has been taken in the compilation and preparation of all entries to ensure accuracy, we cannot accept responsibility for any errors or omissions. Any medical information is provided for education/information purposes and is not designed to replace medical advice by a qualified medical professional. What are the symptoms? If there is damage to nerve function in sacral agenesis, problems can include: constipation (reduced bowel movement) due to the bowel and the bowel sphincters being affected faecal incontinence (where a person is unable to control the removal of faeces from the body) due to the bowel and the bowel sphincters being affected urinary incontinence and urinary tract infections due to the bladder and the urinary sphincters being affectedkidney damage could occur as the bladder may store and empty urine at abnormally high pressurethere can be varying degrees of paralysis affecting the lower limbs if the nerves coming from the sacrum are abnormal. This can vary from minor problems with gait (the pattern of movement of the limbs) to total paralysis. What are the causes? Although in the majority of cases there is no clear cause of sacral agenesis, there is a clear association with insulin-dependent diabetes in the mother. Sacral agenesis may also be associated with abnormal development in other organs such as the anus/rectum, the bones and joints of the leg and the other bones in the spine. When these occur together this is referred to as Caudal Regression syndrome. How is it diagnosed? Most cases are only detected after birth. Sometimes the condition may be discovered later when the child is older and has problems with constipation, incontinence, urinary tract infections or abnormalities with gait. All patients with sacral agenesis will need to be assessed by a medical specialist with an interest in bowel and bladder problems, the neurology of the lower limbs and, probably, a specialist paediatric orthopaedic surgeon. A simple X-ray of the spine will usually diagnose the condition. Once the diagnosis is confirmed, all patients will require a magnetic resonance imaging (MRI) scan. How is it treated? There are a wide variety of treatments available to improve and control all of the problems arising due to sacral agenesis. It is now possible to achieve both faecal and urinary continence. It is also possible to safely protect the kidneys from damage due to the abnormal bladder. Inheritance patterns and prenatal diagnosis Inheritance patterns There is an increased association between the development of sacral agenesis and diabetes in the mother. However, most cases of sacral agenesis arise sporadically (with no previous family history). Like all abnormalities of the development of the spine and spinal cord, if a parent has one child affected, there is an increased risk of further children being affected. Affected families should be referred to a genetics service for further information and support. Prenatal diagnosis Prenatal diagnosis is possible, but is unusual. Affected families should be referred to their local genetics centre for further information and support. Is there support? Sacral Agenesis Contact Group Tel: 02380 842 661 The Group offers information and support to anyone affected by Sacral Agenesis. Group details last updated December 2014.
What are the symptoms? If there is damage to nerve function in sacral agenesis, problems can include: constipation (reduced bowel movement) due to the bowel and the bowel sphincters being affected faecal incontinence (where a person is unable to control the removal of faeces from the body) due to the bowel and the bowel sphincters being affected urinary incontinence and urinary tract infections due to the bladder and the urinary sphincters being affectedkidney damage could occur as the bladder may store and empty urine at abnormally high pressurethere can be varying degrees of paralysis affecting the lower limbs if the nerves coming from the sacrum are abnormal. This can vary from minor problems with gait (the pattern of movement of the limbs) to total paralysis. What are the causes? Although in the majority of cases there is no clear cause of sacral agenesis, there is a clear association with insulin-dependent diabetes in the mother. Sacral agenesis may also be associated with abnormal development in other organs such as the anus/rectum, the bones and joints of the leg and the other bones in the spine. When these occur together this is referred to as Caudal Regression syndrome. How is it diagnosed? Most cases are only detected after birth. Sometimes the condition may be discovered later when the child is older and has problems with constipation, incontinence, urinary tract infections or abnormalities with gait. All patients with sacral agenesis will need to be assessed by a medical specialist with an interest in bowel and bladder problems, the neurology of the lower limbs and, probably, a specialist paediatric orthopaedic surgeon. A simple X-ray of the spine will usually diagnose the condition. Once the diagnosis is confirmed, all patients will require a magnetic resonance imaging (MRI) scan. How is it treated? There are a wide variety of treatments available to improve and control all of the problems arising due to sacral agenesis. It is now possible to achieve both faecal and urinary continence. It is also possible to safely protect the kidneys from damage due to the abnormal bladder. Inheritance patterns and prenatal diagnosis Inheritance patterns There is an increased association between the development of sacral agenesis and diabetes in the mother. However, most cases of sacral agenesis arise sporadically (with no previous family history). Like all abnormalities of the development of the spine and spinal cord, if a parent has one child affected, there is an increased risk of further children being affected. Affected families should be referred to a genetics service for further information and support. Prenatal diagnosis Prenatal diagnosis is possible, but is unusual. Affected families should be referred to their local genetics centre for further information and support. Is there support? Sacral Agenesis Contact Group Tel: 02380 842 661 The Group offers information and support to anyone affected by Sacral Agenesis. Group details last updated December 2014.
What are the symptoms? If there is damage to nerve function in sacral agenesis, problems can include: constipation (reduced bowel movement) due to the bowel and the bowel sphincters being affected faecal incontinence (where a person is unable to control the removal of faeces from the body) due to the bowel and the bowel sphincters being affected urinary incontinence and urinary tract infections due to the bladder and the urinary sphincters being affectedkidney damage could occur as the bladder may store and empty urine at abnormally high pressurethere can be varying degrees of paralysis affecting the lower limbs if the nerves coming from the sacrum are abnormal. This can vary from minor problems with gait (the pattern of movement of the limbs) to total paralysis.
What are the causes? Although in the majority of cases there is no clear cause of sacral agenesis, there is a clear association with insulin-dependent diabetes in the mother. Sacral agenesis may also be associated with abnormal development in other organs such as the anus/rectum, the bones and joints of the leg and the other bones in the spine. When these occur together this is referred to as Caudal Regression syndrome.
How is it diagnosed? Most cases are only detected after birth. Sometimes the condition may be discovered later when the child is older and has problems with constipation, incontinence, urinary tract infections or abnormalities with gait. All patients with sacral agenesis will need to be assessed by a medical specialist with an interest in bowel and bladder problems, the neurology of the lower limbs and, probably, a specialist paediatric orthopaedic surgeon. A simple X-ray of the spine will usually diagnose the condition. Once the diagnosis is confirmed, all patients will require a magnetic resonance imaging (MRI) scan.
How is it treated? There are a wide variety of treatments available to improve and control all of the problems arising due to sacral agenesis. It is now possible to achieve both faecal and urinary continence. It is also possible to safely protect the kidneys from damage due to the abnormal bladder.
Inheritance patterns and prenatal diagnosis Inheritance patterns There is an increased association between the development of sacral agenesis and diabetes in the mother. However, most cases of sacral agenesis arise sporadically (with no previous family history). Like all abnormalities of the development of the spine and spinal cord, if a parent has one child affected, there is an increased risk of further children being affected. Affected families should be referred to a genetics service for further information and support. Prenatal diagnosis Prenatal diagnosis is possible, but is unusual. Affected families should be referred to their local genetics centre for further information and support.
Is there support? Sacral Agenesis Contact Group Tel: 02380 842 661 The Group offers information and support to anyone affected by Sacral Agenesis. Group details last updated December 2014.
If your child is affected by a medical condition or disability we can help. Call our freephone helpline on 0808 808 3555 to get information, support and advice. You can also browse our range of parent guides on aspects of caring for a disabled child in our resource library. To meet other parents see support groups below or meet other parents online in our closed Facebook group. You can search for specific eye conditions on our A-Z of Medical Conditions. Other UK sites with trusted health information: NHS websitewww.nhs.uk Patient UKwww.patient.co.uk Although alternative links have been selected with great care, Contact cannot accept responsibility for any inaccuracies or errors. Alternative information providers give details of their quality control procedures on their website, which includes review of information by a qualified medical professional. Is there support? LOOK Tel: 07464 351958Email: info@look-uk.orgWebsite: look-uk.org The Organisation is a Registered Charity in England and Wales No. 1140471. It provides information, support and activities for families with visually impaired children and young people. They also offer a mentoring scheme for 11-29 year olds. Group details last reviewed December 2023. Guide Dogs Tel: 0800 781 1444Email: information@guidedogs.org.uk Website: guidedogs.org.uk The Organisation is a Registered Charity in England and Wales No. 209617. It provides information, support and services for children and young people with a visual impairment and their families across the UK. Group details last updated December 2023. VICTA Children Tel: 01908 240 831Email: admin@victa.org.ukWebsite: victa.org.uk VICTA is a Registered Charity in England and Wales No. 1065029. It provides information and support to blind and partially sighted children, young people and their families across the UK. VICTA offers grants for equipment and services, youth weekends, family days and an annual family weekend. Group details last reviewed December 2023. Royal National Institute of Blind People (RNIB) Helpline: 0303 123 9999Email: helpline@rnib.org.ukWebsite: rnib.org.uk The Institute is a Registered Charity in England and Wales No. 226227. and Scotland No.SC039316. It provides information and support to anyone affected by sight loss, and offers a range of services across the UK. Group details last reviewed December 2023. Royal Society for Blind Children (RSBC) Tel: 020 3198 0225Email: connections@rsbc.org.ukWebsite: rsbc.org.uk The Society is a Registered Charity in England and Wales No.307892.They provide a National Family Support Service offering practical advice and emotional support to families with a child with a sight condition. Group details reviewed December 2023.
Is there support? LOOK Tel: 07464 351958Email: info@look-uk.orgWebsite: look-uk.org The Organisation is a Registered Charity in England and Wales No. 1140471. It provides information, support and activities for families with visually impaired children and young people. They also offer a mentoring scheme for 11-29 year olds. Group details last reviewed December 2023. Guide Dogs Tel: 0800 781 1444Email: information@guidedogs.org.uk Website: guidedogs.org.uk The Organisation is a Registered Charity in England and Wales No. 209617. It provides information, support and services for children and young people with a visual impairment and their families across the UK. Group details last updated December 2023. VICTA Children Tel: 01908 240 831Email: admin@victa.org.ukWebsite: victa.org.uk VICTA is a Registered Charity in England and Wales No. 1065029. It provides information and support to blind and partially sighted children, young people and their families across the UK. VICTA offers grants for equipment and services, youth weekends, family days and an annual family weekend. Group details last reviewed December 2023. Royal National Institute of Blind People (RNIB) Helpline: 0303 123 9999Email: helpline@rnib.org.ukWebsite: rnib.org.uk The Institute is a Registered Charity in England and Wales No. 226227. and Scotland No.SC039316. It provides information and support to anyone affected by sight loss, and offers a range of services across the UK. Group details last reviewed December 2023. Royal Society for Blind Children (RSBC) Tel: 020 3198 0225Email: connections@rsbc.org.ukWebsite: rsbc.org.uk The Society is a Registered Charity in England and Wales No.307892.They provide a National Family Support Service offering practical advice and emotional support to families with a child with a sight condition. Group details reviewed December 2023.
Is there support? LOOK Tel: 07464 351958Email: info@look-uk.orgWebsite: look-uk.org The Organisation is a Registered Charity in England and Wales No. 1140471. It provides information, support and activities for families with visually impaired children and young people. They also offer a mentoring scheme for 11-29 year olds. Group details last reviewed December 2023. Guide Dogs Tel: 0800 781 1444Email: information@guidedogs.org.uk Website: guidedogs.org.uk The Organisation is a Registered Charity in England and Wales No. 209617. It provides information, support and services for children and young people with a visual impairment and their families across the UK. Group details last updated December 2023. VICTA Children Tel: 01908 240 831Email: admin@victa.org.ukWebsite: victa.org.uk VICTA is a Registered Charity in England and Wales No. 1065029. It provides information and support to blind and partially sighted children, young people and their families across the UK. VICTA offers grants for equipment and services, youth weekends, family days and an annual family weekend. Group details last reviewed December 2023. Royal National Institute of Blind People (RNIB) Helpline: 0303 123 9999Email: helpline@rnib.org.ukWebsite: rnib.org.uk The Institute is a Registered Charity in England and Wales No. 226227. and Scotland No.SC039316. It provides information and support to anyone affected by sight loss, and offers a range of services across the UK. Group details last reviewed December 2023. Royal Society for Blind Children (RSBC) Tel: 020 3198 0225Email: connections@rsbc.org.ukWebsite: rsbc.org.uk The Society is a Registered Charity in England and Wales No.307892.They provide a National Family Support Service offering practical advice and emotional support to families with a child with a sight condition. Group details reviewed December 2023.