Condition AZ: c

The Butterfly Trust

Tel: 0131 445 5590
Email: [email protected]
Website: butterflytrust.org.uk

The Trust is a Registered Charity in Scotland No. SC033174.  It provides support to people affected by Cystic Fibrosis (CF) throughout Scotland. 

Group details last reviewed December 2025.

Cystic Fibrosis Trust

Helpline: 0300 373 1000
Email: [email protected]
Website: cysticfibrosis.org.uk

The Trust is a Registered Charity in England and Wales No. 1079049. It provides information and support to anyone affected by Cystic Fibrosis, and offers a range of grants for people with Cystic Fibrosis and their families.

Group details last reviewed December 2025.

Most people affected can identify experiences or conditions which may bring on attacks, the most common being heightened emotional states and infections. Before the attacks some patients experience early signs of an attack consisting usually of malaise (a feeling of general discomfort or uneasiness), anxiety and mild nausea.

The onset of the attack is more frequently seen during the night or on awakening in the morning. The main feature is recurrent episodes of vomiting lasting hours or days with frequent retching. Nausea is constant throughout the episode and is frequently intense. There is a high frequency of vomiting at the peak of the attack with vomiting which can occur up to every 10 to 15 minutes. The average attack duration is 24 hours, but some patients have considerably longer attacks.

Other associated problems include headache, abdominal pain, photophobia (sensitivity to light) and dizziness. At the end of the attack there is rapid resolution to normality (they are said to be self-limiting). Between attacks the patient is completely well and free of nausea and vomiting.

The frequency of attacks ranges from 1 to 70 per year with an average of 12 attacks per year. They occur at regular intervals in about half of patients and sporadically (not in a regular pattern) in others.

Children with CVS have a strong chance of developing migraine headache. This most commonly occurs around puberty, but about one third of children with CVS will continue to suffer from cyclical vomiting attacks well into their teens. In many, but not all patients, the cyclical vomiting attacks will subside as migraine headaches develop.

It has been suggested that the genetic cause of CVS is inherited on the DNA from the mitochondria (a small body in our cells).

Individual attacks of CVS are often diagnosed as gastroenteritis (infection of the stomach and bowel caused by bacteria or viruses) and it is only when a pattern emerges over time that they can be identified as CVS. Many patients with milder symptoms have not sought medical attention or the condition has not been recognised.

There is no good evidence-based treatment for CVS based on research. Attack frequency may be reduced by the use of drugs such as Propranolol and Pizotifen. Acute attacks are usually treated with intravenous fluids (usually 10% Dextrose) and Ondansetron. Sedation with Lorazepam may be required.

Inheritance patterns
A family history of migraine is frequency seen in CVS and, as with other forms of migraine, the condition appears more commonly to be inherited from the mother.

Prenatal diagnosis
None.

Cyclical Vomiting Syndrome Association UK

Helpline: 0151 342 1660
Email: [email protected]
Website: cvsa.org.uk

The Association is a Registered Charity in England and Wales No. 1045723. It provides information and support to anyone affected by Cyclical Vomiting Syndrome. The Association holds an annual family day.

Group details last updated October 2015.

There is no support group for cutis laxa in the UK. A support group outside of the UK exists for cutis laxa, please ring our helpline for details. You can also connect with other families in our closed Facebook group

Information and support in the UK for Cushing syndrome is provided by The Pituitary Foundation(see entry Pituitary disorders).

The skull is made up of flat plate-like bones (cranial bones) connected by seam-like joints (sutures). These joints allow neighbouring cranial bones to be mobile, so that they can slide over each other during birth and allow the growth of the brain during childhood. In Crouzon syndrome, during pregnancy or within the first year of life the cranial (or facial) sutures begin to fuse early (craniosynostosis). This alters the normal pattern of skull growth and therefore the shape of the skull.

Features include:

• altered shape of the top of the head
• raised intracranial pressure (the pressure inside the skull)
• underdevelopment of mid-face
• shallow eye sockets with prominent  eyes
• abnormal arrangement of teeth
• normal appearance of the hands and feet.

Although affected children may have a range of clinical problems, the head shape is usually the most striking initial feature. At the outset the major concerns are the ease of breathing, potential feeding problems, eye protection and remedying raised intracranial pressure.

Crouzon syndrome is usually caused by alteration (mutation) in the FGFR2 gene. Rarely, a change in the FGFR3 gene may occur, which also causes people to develop a skin condition called acanthosis nigricans during childhood.

The diagnosis is usually suspected clinically, based on the facial appearance, normal hands and feet and presence of craniosynostosis on skull X-rays or scans. The diagnosis is confirmed by testing of DNA, usually from a blood sample.

A child may require surgery to relieve raised intracranial pressure and to reshape the skull and midface. A child with Crouzon syndrome usually enters a coordinated programme of care involving many different clinical specialities integrating their diverse expertise, from birth to later teenage years. In the UK a number of specialist craniofacial centres are funded to provide coordinated care for children with Crouzon syndrome. However, provided that the potential complications are treated and the child is regularly monitored, the majority of individuals with Crouzon syndrome have normal development and intelligence.

Inheritance patterns
Many cases of Crouzon syndrome occur due to new mutations in a family (sporadic) and increased age of the father can be a related factor. People affected with Crouzon syndrome transmit the condition to their children in an autosomal dominant manner.

Prenatal diagnosis
The skull changes of Crouzon syndrome cannot reliably be detected by ultrasound scanning in pregnancy. Where the genetic mutation in the FGFR2 or FGFR3 gene is known, prenatal diagnosis for pregnancies at high (50%) risk can be carried out by chorionic villus sampling or amniocentesis; preimplantation diagnosis would also be feasible. In some cases non-invasive prenatal diagnosis (NIPD) may be available by means of a maternal blood sample after 9 weeks of pregnancy.

As Crouzon syndrome is a craniofacial condition, support and advice is available from Headlines (see entry Craniofacial conditions).

Crohn’s and Colitis UK

Helpline: 0300 222 5700
Email [email protected]
Website: crohnsandcolitis.org.uk

The Organisation is a Registered Charity in England and Wales No. 1117148 and Scotland No. SC038632. It offers information and support to people affected by Ulcerative Colitis or Crohn’s Disease, including specific support for young people and for families.

Group details last reviewed December 2025.

CICRA

Tel: 020 8949 6209
Email: [email protected]
Website: cicra.org

The Association is a Registered Charity in England & Wales No. 278212 and Scotland No. SC040700.  It offers information and support for children affected by Crohn’s disease or ulcerative colitis, and their families. It also funds nationwide Peer Reviewed Research into these conditions.

Group details last updated December 2025.

CJD damages the brain and therefore the symptoms result from impaired brain function. They can include:

• loss of memory and thinking
• speech difficulties leading to loss of speech
• loss of balance and coordination with progressive deterioration of movement leading to immobility
• visual problems 
• abnormal jerking movements.

CJD is classed as a prion disease. In these diseases, a protein called the prion protein takes on an abnormal shape and deposits of this abnormal protein build up in the brain. Alongside this, there is a progressive and irreversible damage to nerve cells. Genetic CJD is caused by an abnormal prion protein gene that is inherited within the affected family. Variant CJD arose from eating food contaminated with an animal prion disease called bovine spongiform encephalopathy (BSE) which affected cattle. The media have called BSE ‘mad cow disease’; this is an inaccurate name that many families affected by variant CJD find offensive. Since 1989, there have been effective controls to prevent meat from infected cattle from entering the food chain that were strengthened in 1996. Within the UK, no cases of variant CJD have been reported in anyone born after 1989 and there are, in 2016, no living cases of variant CJD in the world. A few cases of blood transfusion transmission of variant CJD from an infected donor to a recipient have been reported. Iatrogenic CJD has resulted mainly from accidental transmission of CJD from person to person via the use of certain human hormone products and dura mater (surgical tissue) grafts. The cause of sporadic CJD is unknown.

At present, the absolute diagnosis of CJD requires an examination of brain tissue (very rarely via a brain biopsy in life; more commonly at autopsy after death).  However, a reasonably or even highly confident diagnosis of CJD is generally possible on observing the main features of the condition, with the support of medical investigations including brain magnetic resonance imaging (MRI) scans, electroencephalogram recordings (which measure brain waves; the EEG) and examining cerebrospinal fluid (CSF). There are other supportive tests in use or under development including tonsil biopsy (variant CJD only), nasal brushing analysis, a blood test (variant CJD only) and possibly a urine test. In genetic CJD, a blood test can identify the relevant gene abnormality.

If a person is suspected of having CJD, they may be referred to the National CJD Research and Surveillance Unit, and the NHS National Prion Clinic. Treatment involves trying to keep the person as comfortable as possible and reducing symptoms through the use of medicines. Unfortunately, there is no cure for people affected by CJD. Psychological symptoms of CJD, such as anxiety and depression, can be treated with sedatives and antidepressants. Other medicines, such as clonazepam and sodium valproate, can be used to treat muscle jerks and tremors. Painkillers and other pain relief medicines may be prescribed.

Inheritance patterns
A minority of cases (genetic CJD) is inherited with an autosomal dominant pattern.

Prenatal diagnosis
A test is available in the case of genetic CJD only.

CJD Support Network

Freephone helpline: 0800 085 3527
Tel: 01630 673973
Email: [email protected]
Website: cjdsupport.net

The Network is a Registered Charity in England and Wales No. 1097173, established in 1995. It offers support and advice on all forms of CJD, links families where possible, publishes a twice yearly newsletter and has information available. It also offers support to those who have been told they have an increased risk of CJD through blood transfusions or surgical instruments. The Network has approximately 400 members.

Group details last updated May 2016

Families of Human BSE

c/o Contact
Helpline: 0808 808 3555
Email: [email protected]

This Group is a network of families, established in 1997. It offers support to families affected by this condition and holds an annual Memorial Day.

Group details last updated January 2018.

National CJD Research & Surveillance Unit (NCJDRSU)

Tel: 0131 537 2128
Email: [email protected]
Website: cjd.ed.ac.uk

The Organisation carries out CJD surveillance in the UK and research into prion disease and related problems. It has a wide range of information available and can answer general queries on CJD. The National CJD Care Team is based within the NCJDRSU and was formed to optimise the care of patients suffering from all forms of CJD. 

Group details last updated May 2016.

National Prion Clinic

Tel: 020 3448 4037
Website: nationalprionclinic.org

The Clinic is a specialist service of the National Hospital for Neurology and Neurosurgery. It provides information, advice and support about assessment and diagnosis for patients, families, and health care professionals.

Group details last updated May 2016.

As the brain grows during fetal life (in the womb) and childhood, the overlying skull also enlarges by adding new bone at these sutures. Craniosynostosis causes distortion of the shape of the skull due to both to failure of bone growth at the prematurely closed suture, and to compensatory overgrowth at the sutures that remain open.

The different types of craniosynostosis are classified by which sutures have closed prematurely:

• sagittal synostosis – which gives a long, narrow head
• coronal synostosis – may affect one side (unilateral) or both sides (bilateral) and gives a broad, flat head that is asymmetric in unilateral cases
• metopic synostosis – causes a triangular-shaped forehead.
• lambdoid synostosis – causes flattening at the back of the head.

The remaining 30 per cent of craniosynostosis is more complex and either involves the fusion of multiple sutures, and/or is combined with additional changes in the face, limbs or other parts of the body, or developmental problems, indicating a syndrome.

Over 100 craniosynostosis syndromes have been described – the most common are Crouzon, Pfeiffer, Apert, Muenke, Saethre-Chotzen and craniofrontonasal syndromes, together with TCF12-, ERF-, and SMAD6-related craniosynostosis.

Intrauterine factors (within the womb) that increase the likelihood of craniosynostosis include having twins, reduced amniotic fluid (the fluid around the baby), an abnormally shaped womb and breech position (baby feet first rather than head first).

Syndromes that cause craniosynostosis may be due to a change in genetic information (DNA). Genetic mutations can be identified in about 25 per cent of cases, including many of the specific syndromes and also in some children with apparently non-syndromic synostosis. Important genes identified to date are three of the fibroblast growth factor receptors (FGFR1, FGFR2 and FGFR3) and other genes called TWIST1, EFNB1, TCF12, ERF and SMAD.

The diagnosis, assessment and surgical/medical management of craniosynostosis requires a multidisciplinary team approach, involving plastic, maxillofacial (focussing on the mouth, jaws, face and neck), and neurological surgeons. Also involved may be ear/nose and throat specialists, geneticists, orthoptists (specialise in diagnosing and treating visual problems involving eye movement and alignment), psychologists and speech and language therapists.

In England and Wales, four centres located at Birmingham, Liverpool, London (Great Ormond Street Hospital) and Oxford can undertake this work.

Inheritance patterns
If craniosynostosis is due to a genetic syndrome then the pattern of inheritance will conform to that syndrome. Especially in more severe cases, the syndrome may be caused by a new mutation, i.e. arising in the family for the first time in the affected child (sporadic mutation).

Prenatal diagnosis
Prenatal diagnosis for craniosynostosis is only normally possible when a specific mutation in a family has been identified. In selected cases, non-invasive prenatal diagnosis (using a blood sample from the pregnant mother) is now technically possible. Affected families should be referred to their genetics centre for information and support. Ultrasound scanning during pregnancy often fails to detect craniosynostosis, except in severe cases.

Headlines – Craniofacial Support

Tel: 0300 1200410
Email: [email protected]
Website: headlines.org.uk

The Group is a Registered Charity in England and Wales No. 1058461. It provides information and support to all those affected by Craniosynostosis (both syndromic and non-syndromic) and associated conditions. The Group hosts an annual family weekend and has online forums for members. 

Group details last updated October 2018.

Features of CD may include:

• hamartomas most commonly to be found on the skin and mucous membranes (lining of passages that open to outside the body), such as the lining of the mouth and nose but also in the intestines and other parts of the body
• non-cancerous tumours of the breast and thyroid (a small gland in the neck)
• increased likelihood of breast, thyroid and endometrial (mucous membrane lining of the uterus) cancers. Males are more likely to develop thyroid cancer and females are more likely to develop breast cancer
• macrocephaly (increased head size)
• learning disability
• Lhermitte-Duclos disease – presence of a cerebellar dysplastic gangliocytoma (a type of benign brain tumour).

Diagnosis of CD is based on identification of the distinctive skin features of the disorder. Individuals with CD need to be regularly screened for cancers.

The main component of management is based on early detection, by screening, of cancerous lesions (tissue) with the appropriate surgical and oncological treatment depending on type and stage (how progressed the cancer is). For benign (non-cancerous) skin lesions, treatment options may include oral retinoids, chemical peels, laser resurfacing, surgery and shave excisions (cutting the lesion with a blade), dependent of the expert advice of a dermatologist.

Clinical trials are on-going evaluating the use of mTOR inhibition which targets the underlying abnormal pathway associated with CD.

Inheritance patterns
CD is inherited in an autosomal dominant manner.

Prenatal diagnosis
This is possible by chorionic villus sampling (CVS) at about ten to 12 weeks or amniocentesis at 16 to 18 weeks if the mutation of the PTEN gene affecting the family is known.

There is no support group for Cowden disease in the UK. Cross referrals to other entries in The Contact a Family Directory are intended to provide relevant support for those particular features of the disorder. Organisations identified in those entries do not provide support specifically for Cowden disease.

Families can use Contact’s freephone helpline for advice, information and, where possible, links to other families. You can also connect with other families in our closed Facebook group

No one knows yet why these babies die. Researchers think there are likely to be a number of different causes, or that a combination of factors affect a baby at a vulnerable stage of development. For example exposure to maternal smoking before birth may affect the development of important parts of the brainstem, making the baby more vulnerable.

Research has shown that certain babies are more at risk, namely boys, premature and low birth-weight babies. The vast majority of cot deaths happen to babies aged under six months and there is a peak occurrence at two to three months. Cot death can happen to any family, but it is more likely to happen in families living in difficult circumstances.

Since the introduction of the “Back to Sleep” campaign in 1991 the number of babies dying has fallen by around 80 per cent. However, cot death still claims the lives of 5 babies every week in the UK.

To reduce the risk of cot death:

• place your baby on the back to sleep
• cut smoking during pregnancy – in both mothers and fathers
• do not let anyone smoke in the same room as your baby
• keep your baby’s head uncovered -­ place your baby with feet to the foot of the cot to prevent wriggling down under the covers
• use of a baby sleeping bag avoids the possibility of head covering
• if your baby is unwell seek medical advice promptly
• never sleep with your baby on a sofa or armchair
• breastfeed your baby for at least the first few weeks – the longer the better
• parents should not sleep with their baby in their bed if either partner: is a smoker, even if they never smoked in bed or in their home; has been drinking alcohol; takes medication or drugs that make them drowsy; feels very tired. Bed sharing should be avoided if a baby was born prematurely, with a low birth weight or has a high temperature.
• Ensure your baby receives all scheduled immunisations – immunisation may help reduce the risk of cot death

The safest place for a baby to sleep is in a cot in the parents’ bedroom for the first six months.

Inheritance patterns
None. The risk of cot death is slightly increased in subsequent infants in families in which an infant has died, but there is no clear pattern of inheritance for most families

Prenatal diagnosis
None.

Lullaby Trust

Helpline: 0808 802 6869
Office: 020 7802 3200
Email: [email protected]
Website: lullabytrust.org.uk

The Foundation is a Registered Charity in England and Wales No. 262191, established in 1971. It is the UK’s leading baby charity working to prevent sudden infant deaths and promote baby health. The Foundation achieves its aims through funding research, supporting families, promoting safe infant care advice to parents and professionals and working with professionals to improve investigations when a baby dies. In particular, it runs CONI (Care Of the Next Infant) with the NHS, to support bereaved families when they have subsequent babies. The Foundation has a network of trained befrienders and produces a range of publications including the leaflet ‘When a baby dies suddenly and unexpectedly’.

Group details last confirmed September 2015.

Scottish Cot Death Trust

Tel: 0141 357 3946
Email: [email protected]
Website: scottishcotdeathtrust.org

The Trust is a Registered Charity in Scotland No. SC003458. It provides support for families affected by the loss of a baby to cot death. The Trust raises funds for research, and educates the public and health care professionals about cot death and ways of reducing the risks.

Group details last updated March 2016.

Babies with CS are usually large at birth, and facially unremarkable.  Polyhydramnios (excessive amniotic fluid) is common. Nearly all children with CS have severe feeding difficulties, and reflux (vomiting after feeding). Some babies require tube or gastrostomy feeding. Infants may be irritable and hypersensitive to sound and touch. These features usually improve after age two.

Differences about the heart (see entry Heart Defects) can include hypertrophic cardiomyopathy (see entry Cardiomyopathies), pulmonary stenosis or other abnormalities and irregular heart rhythms.

Rarely, cardiomyopathy may be very severe in the newborn period.  In this small group of very ill babies, hypoglycaemia (low blood sugar) and breathing difficulties are common.

Over time, facial features can include macrocephaly (large head), low-set ears with large, thick lobes and thick lips. Excessive loose skin develops on the palms, fingers and soles, which may thicken over time. Papillomata (small wart-like growths) may occur around the mouth and nostrils.

Joint differences are common, including an unusual posture of the wrists. Scoliosis (curvature of the spine) is also common. People with CS are usually short.

Developmental milestones are delayed. Most children will learn to walk and talk, but the age of doing these is usually delayed, and not all children will acquire age-appropriate skills. Although developmental delay is nearly always present, it is variable. Many children attend mainstream school in the infant and primary years.

Some individuals with CS have developed cancer; this cancer risk appears to be greatest in the first years of life, particularly for a tumour of muscle called embryonal rhabdomysosarcoma.  Although this can start in any skeletal muscle, it is commonest in the abdomen and pelvis.  An increased risk of bladder cancer occurs from adolescence.

Costello syndrome is caused by a mutation in a gene called HRAS, which is important in a pathway in cells called the Ras-MAPK pathway. As a result, it is sometimes called a “Rasopathy”.

Costello syndrome is diagnosed by a blood test which tests the gene HRAS for mutations.

A number of other syndromes, particularly other Rasopathies (including Cardiofaciocutaneous syndrome and Noonan syndrome), conditions associated with being large at birth and storage diseases can share certain features with CS. A diagnosis of CS should be considered in patients where these conditions are suspected, but not confirmed.

Treatment in Costello syndrome is focussed on the associated medical complications. Care should be overseen by a regional genetic service, and for developmental aspects, by a multi-disciplinary team. The cancer risk requires rapid investigation of persisting symptoms, and annual urinalysis from age 10. A regular examination of the abdomen (tummy) and three to four monthly ultrasounds of abdomen and pelvis are recommended until 8 to 10 years.

Some children with CS have growth hormone deficiency. Growth should be monitored using CS charts. If the growth rate is decreasing, this should be discussed with a paediatric endocrinologist.

Inheritance patterns
Most cases of CS are sporadic (the first in a family). Parents should be tested when an HRAS gene change is found in their child. If a parent has the gene change, the chance of each further child being affected would be 50 per cent. If parental testing is normal, the chance of a second affected child is low.

Prenatal diagnosis
Prenatal diagnosis is available, and undertaken by some families for reassurance in subsequent pregnancies.

Costello Kids

Tel: 0845 226 0163
Email: via website
Website: costellokids.com

The Group is a Registered Charity in England and Wales No. 1085605. It offers information and support to families affected by Costello Syndrome or CFC Syndrome. 

Group details last updated August 2018.

Variant lissencephalies: describes conditions associated with classical lissencephaly, but also additional distinguishing abnormalities, like severe cerebellar hypoplasia (lissencephaly with cerebellar hypoplasia; LCH) or absence of the corpus callosum (lissencephaly with agenesis of the corpus callosum; LACC). Autosomal recessive inheritance has been reported. Mutations in the RELN and VLDLR genes have been found in a few families with LCH.

X-linked lissencephaly: with abnormal genitalia: this condition only affects males and is characterised by lissencephaly, absence of the corpus callosum and small basal ganglia associated with underdeveloped genitalia. The prognosis is poor. Mutations in the ARX gene have been identified.

Periventricular nodular heterotopia (PVNH): this condition is also a neuronal migration disorder. Nerve cells, which have failed to migrate to the cortex, line the ventricle in a nodular fashion. Mutations in the FLNA gene on the X-chromosome have been predominantly identified in women with PVNH. An autosomal recessive form of PVNH has been associated with mutations in ARFGEF2.

Polymicrogyria (PMG): this may also be a neuronal migration disorder, but the exact nature of the condition is unclear. It is likely to be more common than lissencephaly. PMG is characterised by more frequent and smaller convolutions on the surface of the brain. It often appears in distinct patterns, and the most common is perisylvian polymicrogyria. Intrauterine infection (cytomegalovirus – CMV) is a known cause for PMG; intrauterine hypoperfusion has also been implicated. Familial occurrences and association with a number of different chromosome anomalies also point to a genetic aetiology in some cases. PMG is associated with a number of different chromosome anomalies; 22q11 deletions are the most common. A rare form of PMG has been associated with mutations in the GPR56 gene; causes for a number of syndromes with PMG as a feature have also been identified (see entries Goldberg Shprintzen syndrome, Joubert syndrome).

Schizencephaly (SCH): this describes a cleft from the cerebral cortex to ventricle, usually lined with polymicrogyria. The causes for SCH are thought to be similar to PMG; familial occurrences appear uncommon.

Congenital microcephaly and cortical malformations: lissencephaly, polymicrogyria, or simplified (not fully formed) gyri (SG) can also be seen in association with severe congenital microcephaly (very, very small head at birth). In these conditions autosomal recessive inheritance has been observed. The general term ‘microlissencephaly’ is often used, but is unfortunately inadequate to describe the variation in cortical anomalies mentioned above (like PMG and SG).

Inheritance patterns
Although the inheritance pattern is well established in some of the conditions described above, counselling in individual cases depends on the precise diagnosis, family history and laboratory investigations where available.

Classical lissencephaly/subcortical band heterotopia is commonly caused by deletions/mutations of the *LIS1 *gene on chromosome 17p, or the DCX gene on the X-chromosome. Recently mutations in the TUBA1A gene have been identified in some patients.

The inheritance observed in cobblestone lissencephaly and associated syndromes is autosomal recessive. WWS has been associated with mutations in the POMT1, POMT2 and FKRP genes, MEB with mutations in the POMGnT1 gene, and FCMD with mutations in the Fukutin gene.

Prenatal diagnosis
Prenatal diagnosis using molecular (genetic) tests is available in some cases. In certain circumstances ultrasound or MRI investigations during pregnancy may be helpful.

There is currently no support group for cortical malformations in the UK. Families can chat to other families online in our closed Facebook group

Children with CdLS usually have slow or very slow development and significant learning disability. Many have psychological and behavioural problems, including autistic spectrum conditions (see entry Autism Spectrum conditions), poor sleep, social anxiety, compulsive behaviour and self-injurious behaviour.

Many children have limb abnormalities, ranging from having small hands and particularly short thumbs in mild cases, to almost complete absence of the forearms in severe cases. Affected children will often have an unusual marbled appearance to the skin on their arms and legs, particularly when they are cold.

Almost all the children have similar facial features, including hirsutism (excessive hair), thin and arched eyebrows that often meet in the middle, long eyelashes, low-set ears, widely spaced teeth, a short upturned nose and down-turned lips.

Medical complications are very common in CdLS, including feeding and bowel problems, particularly gastro-oesophageal reflux (GERD). Heart defects are also common, affecting at least ten per cent of those with CdLS. Most children have hearing problems and seizures (see entry Epilepsy) are another common feature.

Mutations in five genes,NIPBL, SMC1A, SMC3, RAD21 and HDAC8 have been identified as causing CdLS and CdLS-like conditions. NIPBL gene mutations have been identified in most people with typical CdLS, with mutations in the other genes being much less common. The proteins produced from all these genes play important roles in directing development before birth.

The diagnosis is based on a child demonstrating typical characteristics of the condition. Molecular (DNA) analysis of the NIPBL gene from a blood sample allows confirmation in about 50 per cent of cases. Skin DNA can make a diagnosis in almost all typical cases.  Other useful investigations in a suspected case of CdLS are hearing tests and echocardiogram (pictures) of the heart to check for common defects.

There is no cure for CdLS. Treatment is designed to alleviate the symptoms experienced. Educational support and speech and language therapy will assist learning and speech development. Some children will be incapable of speech and may learn to communicate via sign language – hearing aids may help a proportion of children. Psychological and behavioural support can assist with behavioural problems. Heart defects may be corrected by surgery. Occupational therapy and physiotherapy may assist with adapting to limb deformity. It is important to recognise and treat GERD, which is very common and may be the cause of self-injurious behaviour. Epilepsy is also a common and treatable complication.

Inheritance patterns
Almost all cases arise as a result of sporadic mutation. Very rarely CdLS can be inherited as an autosomal dominant (NIPBL, SMC3 or RAD21) or X-linked (SMC1A or HDAC8) pattern of inheritance. Genetic counselling should be sought by affected families.

Prenatal diagnosis
Prenatal testing of subsequent pregnancies in an affected family is possible by molecular (DNA) testing of samples collected by chorionic villus sampling or amniocentesis. Detailed ultrasound scanning may detect limb defects.

CdLS Foundation UK & Ireland

Tel: 01375 376 439
Email: [email protected]
Website: cdls.org.uk

The Foundation is a Registered Charity in England and Wales No. 1054033. It provides information and support to people affected by Cornelia de Lange Syndrome. The Foundation holds mini conferences twice a year where families can meet each other and get the chance to talk informally about the condition and learn from the experiences of others. 

Group details last updated August 2016.

In Conradi-Hunermann syndrome the bones of the arms and legs are short causing short stature (see entry Restricted Growth). The shortening is usually asymmetrical. There is often a scoliosis of the spine. There may be contractures of the joints (where joints are fixed in a bent or straightened position). The bones of the face may also be involved with a depressed bridge of the nose. Some children with this condition have eye changes including cataracts (see entry). Babies may be born with a skin rash (see entry Ichthyosis) and can later develop thickening of the skin. The hair may be sparse or absent in patches.

This condition is usually only seen in girls as boys with the condition do not normally survive.

Conradi-Hunermann syndrome is caused by changes in a gene called EBP, which is important in the formation of cholesterol and Vitamin D

The diagnosis is usually made by assessment of X-rays and it is now possible to look for changes in the EBP gene in children where the diagnosis is suspected.

There is no treatment for the underlying cause of Conradi-Hunermann syndrome but the complications, including scoliosis, joint contracture and cataracts can be treated.

Inheritance patterns
Conradi-Hunermann syndrome is inherited in an X-linked dominant manner. This means that the gene which causes the condition is on the X chromosome and girls are affected whilst boys with the condition do not normally survive. The condition can be inherited within families.

Prenatal diagnosis
This may be possible if the exact cause of the condition is known. In other cases ultrasound scanning may be helpful.

There is no support group for Conradi-Hunermann syndrome in the UK. Cross referrals to other entries in The Contact a Family Directory are intended to provide relevant support for those particular features of the disorder. Organisations identified in those entries do not provide support specifically for Conradi-Hunermann syndrome.

Families can use Contact’s freephone helpline for advice, information and, where possible, links to other families. You can also connect with other families in our closed Facebook group

Information and support in the UK for congenital talipes equinovarus is provided by Steps (see entry Lower Limb Abnormalities).

Infants may at first appear blind but later develop characteristic head movements to shift gaze (head thrusts). Typically the abnormal head movements subside as the child learns to make blinks to help move the eyes, which can make detection of the condition difficult in the older child. Most children with congenital ocular motor apraxia have few problems getting around. They can have problems with looking in a particular direction and following fast moving objects (such as following a ball in sport or watching cartoons on television).

Children may be hypotonic (floppy) with mild motor delay (behind in developing motor skills such as holding head up, rolling over). There may be some unsteadiness of movement called ataxia. Speech development may be slow requiring speech therapy, and reading problems may occur.

Many different parts of the brain control eye movements. If any part becomes damaged then ocular motor apraxia may develop. A child may be born with these special eye movement control bits not working (congenital).

Other children may develop it in childhood (acquired). There are many different reasons why a child might develop ocular motor apraxia in childhood.

Very often no cause can be found. Doctors call this idiopathic.

Congenital ocular motor apraxia is often diagnosed by doctors asking parents questions about their child. Head thrusts are a typical movement that helps a child overcome their difficulty in moving their eyes quickly.

During an examination of the child’s eye movements an eye doctor can confirm the diagnosis.

A head scan can sometimes shows a certain part of the brain to be smaller than usual. This bit of the brain is called the vermis of the cerebellum, which helps the eyes make exact and quick movements. It is not known why some children might have a small vermis.

The congenital condition is not progressive (does not get worse over time). How a child is affected throughout their will depend on the severity of the other associated problems in addition to the visual problems.

Management of the condition involves supporting the child and young person to reach their full potential. Supportive therapies like speech and language therapy, physiotherapy and occupational therapy will help a child. Special education support will help a child to adapt to learning at school.

Inheritance patterns
Usually the condition is sporadic (occurring with no family history). In some families more than one child may be affected by the condition.

Prenatal diagnosis
None.

Families can use Contact’s freephone helpline for advice and information To meet other families with disabled children, join Contact’s closed (private) Facebook group.

In babies
At birth, babies with congenital myotonic dystrophy usually do not have muscle stiffness, but are usually very floppy due to delayed muscle development. Their feet might be deformed, they may not be able to breathe or feed properly, and they may need treatment in an intensive care unit (ICU). Women with DM1 should ideally have their baby in a hospital that has a neonatal ICU. The first few weeks are very critical for affected babies, but later on, the outcome is often better than was initially feared.

In children
As they grow, children with congenital myotonic dystrophy might not learn to sit, walk and talk as quickly as other children and they might have facial weakness. They may have learning difficulties, with a short attention span and poor motivation, and tire easily. Their muscles seem to be less affected in childhood than might be expected from their weakness at birth. Some anaesthetics and sedatives are dangerous for children with congenital myotonic dystrophy, so you should always tell the doctors about it.

It is an inherited (genetic) condition, which is caused by a change (mutation) in the genetic material (DNA) that is passed on from one generation to the next. In DM1 this mutation is not stable and tends to increase in size with each generation often leading to an earlier onset of the disease in successive generations.

The condition may be suspected from the symptoms, and confirmed by genetic testing (usually using a blood sample). If other members of the family already have a diagnosis of DM1, diagnosis is likely to be quicker. However, in many families the birth of a congenitally affected child may be the first clear sign of the disease and diagnosis may take longer.

There is no cure, but much can be done to help. After intensive support following birth, children with congenital myotonic dystrophy may need extra educational help. Physiotherapists, occupational and speech and language therapists can also help. Affected children should attend a neuromuscular clinic at least once a year, to ensure each child gets the help they need.

Inheritance patterns
Each of an affected person’s children has a 50% chance of inheriting DM1. However, it is usual for a baby with congenital myotonic dystrophy to inherit it from its mother rather than from its father. By the time a baby with congenital myotonic dystrophy is born in a family, DM1 will often have affected people in the previous generations. As DM1 is very variable, it might not have been recognised in previous generations, so the baby with congenital myotonic dystrophy might be the first person in the family to be diagnosed.

Prenatal diagnosis
Options for prenatal diagnosis include testing a pregnancy to see if the foetus has inherited DM1. Although these tests are good at telling if a foetus has inherited DM1, they are not so good at telling whether the child will develop congenital myotonic dystrophy or might not develop symptoms until adult life.In vitro fertilisation (IVF) and preimplantation genetic diagnosis may be available to couples at risk of having an affected child.

Myotonic Dystrophy Support Group

Helpline: 0115 987 0080 
Email: [email protected]
Website: myotonicdystrophysupportgroup.org

The Group is a Registered Charity in England and Wales No. 1134499. It provides information and support to those affected by Myotonic Dystrophy. The Group runs a helpline and has a network of regional contacts throughout the UK, and also has links abroad.

Group details last reviewed October 2019.

CMD Families in Action UK

Website: congenitalmyotonicdystrophy.co.uk

CMD Families in Action Uk is a support group who were set up over five years ago and have over 200 members. They offer advice, friendship, support and meetups via their closed Facebook group.

Group details added May 2020.

Muscular Dystrophy UK

Helpline: 0800 652 6352
Email: [email protected]
Website: musculardystrophyuk.org

The Charity is a Registered Charity in England and Wales No. 205395, and Scotland No. SC039445. It provides information and support for anyone affected by muscular dystrophy and other muscle-wasting conditions. Muscular Dystrophy UK also provide grants towards the cost of specialist equipment.

Group details last updated September 2017.