Condition AZ: f

There is no support group for focal dermal hypoplasia 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.

Information and support for features in common with ectodermal dysplasia is provided by the Ectodermal Dysplasia Society (see entry Ectodermal Dysplasia).

Floating Harbor Syndrome UK

Email: floatingharborsyndromeuk@gmail.com
Website: floatingharborsyndrome.co.uk

The group provides support and evidence-based information to families with children with Floating Harbor syndrome. They also have resources for education professionals, and plan to offer a free online counselling service to families in the UK in the near future.

Group details last updated July 2015.

Most people with FOP have short big toes and some have additional abnormalities of the fingers or toes apparent at birth.

The bone formation is usually first noticed in early childhood following isolated flare-ups of inflammatory swellings that resolve into hard lumps in the neck or along the spine. These lumps may be tender and gradually shrink as affected muscles are replaced by bone. The bony lumps in muscles appear usually spontaneously but can be provoked by injury to muscle by trauma or injection. The progressive physical disability is variable in the way it affects a person. There may be long periods of inactivity that can be several years in length. The bone formation eventually locks movement of the affected joints leading to profound immobility.

FOP is caused by one of 14 different mutations in the activin A receptor, type I (ACVR1) gene on chromosome 2, with one genetic variant being predominant.

Definitive genetic testing early in life when malformed big toes or when unexplained swelling and hard lumps in muscles are observed can confirm a diagnosis of FOP.

Currently there is no proven treatment for the condition. Anecdotal evidence suggests that a course of corticosteroids, begun within a short period of a flare-up, may help reduce the intense inflammation and tissue oedema seen in the early stages of the disease. Non-steroidal anti-inflammatory medications COX-2 Inhibitors and paracetamol may be useful in managing pain and chronic discomfort.

Discovery of the causative gene has led to current clinical trials of possible treatments internationally. These agents act at different levels of the specific bone formation process seen in FOP. A retinoic acid receptor gamma agonist, palovarotene, is in a Phase 3 trial by Clementia Pharmaceuticals; a neutralising antibody to activin A, REGN2477, is in a phase 2 trial by Regeneron Pharmaceuticals and a kinase inhibitor, saracatinib, is in a Phase 2 trial under the Horizon 2020 programme of the European Commission. Details of these clinical trials may be found at clinicaltrials.gov or at cordis.europa.eu.

Trauma and injury to the muscles often provokes bone formation at the injury site and speeds up progression of FOP. Intramuscular injections should be avoided if at all possible. Similarly, operations on the skeletal muscles to remove pieces of bone invariably result in increased bone formation, and should be avoided. Dental treatment may result in bone formation in the jaw muscles and individuals with FOP should inform their dentist. In medical emergencies general anaesthesia intubations should be avoided unless absolutely essential and even then only with expert anaesthesia assistance.

Inheritance pattern
Most cases are sporadic and due to a new chromosome mutation in ACVR1. Children of affected individuals, however, have a 50% chance of inheriting FOP.

Prenatal diagnosis
For pregnancy in someone affected by FOP prenatal diagnosis is now possible.

FOP Friends

Email: info@fopfriends.com
Website: fopfriends.com

FOP Friends is a registered charity (no. 1147704) that provides information and support to those with FOP, their family and friends in the UK and those further afield. The Group actively raises awareness of the condition, and fundraises for research into treatments.

Group details last updated October 2019.

FOP UK Support Group

Tel: 01772 339 296
Email: MargaretParkes@btinternet.com

This is a small network, established in 2000 offering informal support to affected individuals and their families.

Group details last reviewed October 2019.

International FOP Association (IFOPA)

Tel: +001(407) 365-4194
Email: together@ifopa.org
Website: ifopa.org

A non-profit organisation that provides hope to individuals with FOP and their families through education and support programs while funding research to find a cure. The IFOPA gives support to 1,000 individuals worldwide in over 50 countries.

Group details added October 2019.

The type of abnormalities experienced by babies with fetal anti-convulsant syndrome can include:

• spina bifida
• cleft lip and/or palate
• upper limb abnormalities
• lower limb abnormalities
• congenital heart disease (see entry Heart Defects)
• kidney problems
• learning and behavioural difficulties.

For some children, facial features may be distinctive, though subtle, especially as toddlers. This is particularly so for children exposed to Epilim. In general, the facial appearance becomes more normal with age.

Current opinion is that variations in the way AEDs are metabolised (processed in the body) by some pregnant women, and/or their affected children, may increase the chance of damage to the unborn baby. The best information has accumulated on the effects caused by phenytoin (Epanutin), carbamazepine (Tegretol) and sodium valproate (Epilim) and, in general, higher doses cause more damage. Many newer AEDs are now being prescribed and their associated risks continue to be evaluated. However, they all appear to be safer than sodium valproate, though no AED should be regarded as completely safe.

Prevention is the key issue, where possible. Pregnant women should take the lowest dose of AED that prevents fits, and if possible take only one AED rather than two or more. There may be some protective value if women take folic acid daily around the time of conception and during the early part of pregnancy.

Children diagnosed with fetal anti-convulsant syndrome should have a full medical investigation including heart and kidney scans, hearing and vision assessments. A neuropsychological assessment will determine if there are learning or behavioural difficulties. Basic genetic tests may be carried out to rule out other possible causes of the child’s problems. Physiotherapy and educational support may be necessary.

Inheritance patterns
The precise cause of all these problems is not yet known. Fetal anti-convulsant syndrome(s) is not a ‘genetic’ condition in the usual sense but current opinion is that variations in the way these drugs are metabolised by some pregnant women, and/or their affected children, predisposes the unborn baby to damage. This variation in metabolism probably is genetically determined but there is no test at present to identify which epileptic mothers are at risk. For women who have had one child diagnosed with fetal anti-convulsant syndrome, the risk of having a second affected baby may be as high as 40 per cent, assuming the same drug at the same dose through pregnancy.

Prenatal diagnosis
Scanning the baby for spina bifida and other major defects can be specifically requested where a mother has been taking anti-epileptic drugs. In the absence of significant physical defects which can be seen on a prenatal scan there is no guaranteed test to identify those babies affected by exposure to these drugs, especially in relation to learning difficulties.

OACS

Tel: 020 8386 9271
Email: enquiries.oacs@gmail.com
Website: oacscharity.org

The Organisation is a Registered Charity in England and Wales No. 1116497, established in 1999. It provides support, information, campaigns to raise awareness of the condition, and actively promotes any research into this group of syndromes. It publishes a quarterly newsletter and has a network of parent contacts around the UK. The Organisation is in touch with many families from around the world. Enquiries from professionals are welcome.

Group details last confirmed October 2014.

The use of the word fetal in FASD has led to the misunderstanding that children will ‘grow out of it’.  In fact FASD are life-long conditions and, although the difficulties for these children will change over time, they and their families will always struggle with life and learning.    

The clinical features of FAS are grouped into four areas known as the four digit code:

• pre and post-natal growth retardation – children are light in weight, short in length and have a smaller than normal head circumference
• facial features: including mid-facial flattening, smaller than normal opening to the eye (measured from one corner to the other), absent philtrum (the ridges between the nose and the upper lip) and thin upper lip
• moderate-to-severe learning difficulties (see entry Learning Disability)
• a history of maternal alcohol consumption.

However, commonly the first sign of pre-natal alcohol exposure is a range of behavioural problems which may start with difficulties in feeding and sleeping.  Major issues include problems with memory and an inability to plan and carry out tasks.  In older children and adults, mental health problems and trouble with the law are common particularly in looked after children.

Added to the behavioural problems many of these children and young people experience physical problems which may go unrecognised.  These include higher than normal rates of congenital heart defects, hypothyroidism, joint problems eg arthritis, sensory-motor problems.  Some of these problems such as chronic ear infections, if unidentified, may affect hearing and in turn lead to problems at school. 

Pre-natal alcohol exposure.  The severity of the syndrome relates to the frequency of drinking, the amount drunk on each occasion and the stage of pregnancy.  The first trimester where organ development and brain growth occur is the most sensitive time for the fetus.  However, harm can occur at any stage of pregnancy.

Factors that influence how seriously the baby may be affected include poor nutritional status, use of tobacco or other drugs and lower socio-economic status.

The use of the 4-Digit Code (see above) is the most recognised means of diagnosis with the severity of the facial features being a marker to the severity of brain damage.  However more than 70% of children born with pre-natal alcohol exposure do not have these facial features.  As the children get older many of them lose the characteristic facial features thus making diagnosis difficult.  It is often a diagnosis of exclusion.

There is no treatment for FASD.  Addressing individual issues such as learning and behavioural problems can be a great help.  There are changes over time with these problems and approaches will differ depending on severity of the disorder and age.  Awareness of some of the accompanying physical conditions may ensure treatment for these is instigated and will help with such aspects as reducing the number of school days lost.   A stable environment and a consistent approach are important and support for the child, the parents and siblings is vital.

Inheritance patterns
None known at this time.

Prenatal diagnosis
There is no diagnostic test at this time.  However, a clear drinking history from the mother and advice to stop drinking is important.  Monitoring for general pre-natal growth may help.

National Organisation for FASD

Helpline: 020 8458 5951
Email: info@nationalfasd.org.uk
Website: nationalfasd.org.uk

The Organisation is a Registered Charity in England and Wales No. 1101935, established in 2003. It provides information on Fetal Alcohol syndrome (FAS) and Fetal Alcohol Spectrum disorder (FASD), links families where possible, runs family activity days, conferences and training sessions, has a library of resources and publishes a regular newsletter.

Group details last updated August 2021.

FASD Scotland

Tel: 01698 427301
Email: info@FASDscotland.com
Website: fasdscotland.com

The Organisation is a Registered Charity in Scotland No. SC043581. The organisation offers information and awareness about the lifelong risks of prenatal exposure to alcohol.  They provide Information, support and advocacy to families caring for a child affected by FASD, strategies for managing FASD and advice and training to reduce FASD secondary disabilities. They also provide training for professionals involved with individuals affected by FASD and partnership with other agencies to prevent FASD and secondary disabilities.

Group details added March 2018.

ARC (Antenatal Results and Choices)

Helpline: 0845 077 2290
Email: info@arc-uk.org
Website: arc-uk.org

The Organisation is a Registered Charity in England and Wales No. 1148653. It provides information and support to parents before, during and after antenatal screening, when they are told their baby has an anomaly, when they are making difficult decisions about continuing with or ending a pregnancy, and when they are coping with complex and painful issues after making a decision, including bereavement. 

Group details last updated December 2014.

The symptoms of these conditions vary and depend on the type of fatty acid oxidation disorder. In most of the disorders, problems occur in early childhood, usually brought on by minor infections associated with vomiting or fasting (not eating). At these times, the patients may become increasingly drowsy with low blood sugar levels. Without treatment, this can lead to seizures, coma or sudden death. Other patients may have problems affecting their heart (cardiomyopathy) or muscles. Some patients suffer episodes of muscle pain and damage (called rhabdomyolysis); these episodes may be brought on by exercise in adults who have had no problems during childhood.

Fatty acid oxidation disorders are genetic conditions. They are caused by faults (mutations) in the genes for the enzymes listed above.

The most common of the fatty acid oxidation disorders is MCADD. In the UK, this is diagnosed by newborn screening. The test is carried out on a few drops of blood from a heel prick.

Other fatty acid oxidation disorders are diagnosed by looking for abnormal chemicals in blood and urine if a patient has relevant symptoms.

Patients with MCADD need to avoid fasting and to maintain a regular intake of sugar during infections. The sugar can be given in drinks or intravenously if the patient vomits. With this simple management, outcomes are excellent.

Children with other fatty acid oxidation disorders also need to avoid fasting and to receive plenty of sugar during infections. For some disorders, extra measures are needed. These may include a low-fat diet, overnight feeds or drugs (such as carnitine, riboflavin or bezafibrate).

Inheritance patterns
Fatty acid oxidation disorders are inherited in an autosomal recessive manner.

Prenatal diagnosis 
Prenatal diagnosis is available for these disorders. Affected families should be referred to their regional genetics centre for further information and support.

Information and support in the UK for fatty acid oxidation disorders is provided by Climb (see entry Inherited Metabolic diseases).

The problems associated with FA include:

• congenital birth defects: the most common problems affect the thumb and radius (a bone in the lower arm). Other areas often affected are the heart, genitourinary system, other limbs and skin (with abnormal pigmentation – colouring of the skin)
• growth: short stature is common. Although deficiency of growth and thyroid hormones are seen in FA, their relevance to poor growth is not well understood.
• low blood cell counts (white cell, red cell and platelet counts): red blood cells carry oxygen around the body, white blood cells fight off infection and platelets help the blood clot. These often fall with age in FA leading to increased infections, anaemia and tiredness, and excessive bruising or bleeding. Many of those with abnormal blood counts during childhood will go on to develop aplastic anaemia.
• acute myeloid leukaemia (AML; see entry Leukaemia and other Allied Blood disorders) may occur, particularly during the second decade of life
• predisposition to cancer: many types of cancer are more frequent but the commonest complications are the development of acute myeloid leukaemia and head and neck or gynaecological cancers. Bone marrow changes, including the development of ‘clones’ of cells with chromosome changes or myelodysplastic syndrome, often occur before leukaemia develops.

FA is an inherited genetic condition. Scientists have now discovered 15 FA or FA-like genes [A, B, C, D1 (BRCA2), D2, E, F, G, I, J, L, M, N, P and RAD51C]. These genes account for more than 95 per cent of FA cases. Some patients do not appear to have mutations in any of the 15 genes, suggesting that more genes are to be discovered.

Physical problems present at birth may indicate FA. However, sometimes AML is the first sign of the condition. Blood tests will reveal low counts of red and white cells and platelets. The main diagnostic test for FA is called a chromosome breakage test: in which a patient’s DNA is placed in a test tube with a chemical that damages it. Normal cells are able to correct most of the damage, whereas cells from somebody with FA are significantly damaged.

Some abnormalities, particularly abnormal thumbs or skin tags, or heart defects, may require surgery. Aplastic anaemia often responds to administration of the androgenic steroids oxymetholone or Danazol, although the beneficial effect is not permanent and side effects are common.

Bone marrow transplantation can cure blood problems, but there can be severe complications. The best results have been in children with tissue-matched sibling donors who are themselves free of the condition. However, results from matched unrelated donors are improving. There is also ongoing research into whether gene therapy can play a role in future treatment. Regular examinations are necessary to watch for signs of leukaemia or cancer.

Inheritance patterns
Autosomal recessive (98 per cent) or X-linked (2 per cent, in patients with Fanconi B mutations). For autosomal recessive diseases, if both parents carry a mutation in the same FA gene there is a 25 per cent chance that their child will have the condition.

Prenatal diagnosis
Identification of the causative gene offers the possibility of prenatal diagnosis in future pregnancies. Cells from the developing baby may be gathered by amniocentesis or chorionic villus sampling and molecular (DNA) testing carried out to look for the mutation. Some parents have chosen to combine preimplantation diagnosis with tissue typing of embryos so that the cord blood from a healthy baby can be used for transplantation of a sibling with aplastic anaemia.

Fanconi Hope

Tel: 0845 271 2811
Email: via website
Website: fanconihope.org

The Group is a Registered Charity in England and Wales No. 1126894.  It provides information and support to families affected by Fanconi anaemia and clinicians with an interest in the condition. The Group supports a UK Fanconi Anaemia National Registry and provides grants for research.

Group details last updated August 2014.

There are three main features of FSP: the legs become stiff (spasticity) and there is a variable amount of weakness (paraplegia), and muscle cramps and spasms can also be present. The complicated form of FSP can also be associated with other symptoms, such as ataxia, dementia, visual dysfunction or epilepsy, though the presence and severity of additional symptoms varies from person to person.

FSP is caused by degeneration of the upper motor neurons (which help to carry signals from the brain to the muscles) within the brain and spinal cord.

A combination of factors are taken into account when making a diagnosis of FSP: family history, the presence/absence of additional signs and the exclusion of other non-genetic causes of spasticity, which is particularly important in cases caused by a sporadic mutation. Cerebral and spinal magnetic resonance images (MRIs) are used to exclude other conditions. Along with the age at onset, these clinical and genetic data allow clinicians to decide whether to do genetic testing for FSP.

A multidisciplinary treatment regime is used to manage symptoms. There are three main treatment types: physiotherapy/exercise, electrical muscle stimulation and prescription medication. Physiotherapy in the form of regular exercises to keep muscles stretched helps in reducing stiffness and pain. Functional electrical stimulation (FES) delivers electrical impulses directly to certain muscle groups, producing contractions in muscles normally paralysed due to FSP.

Prescription medication may include baclofen (a voluntary muscle relaxant to relax muscles and reduce tone), tizanidine (to treat intermittent spasms) and diazepam or clonazepam (to decrease intensity of spasms). Botulinum toxin (botox) may also be administered to treat spasticity. Botox can reduce spasticity one to two weeks post-injection, with an effect lasting around three to four months.

Inheritance patterns
The chromosomal locations (loci) of many spastic paraplegia genes are now known, although several of the actual genes and mutations causing FSP remain to be identified.

All modes of inheritance (autosomal dominant, autosomal recessive and X-linked) have been described. The most common form of inheritance is autosomal dominant, with the commonest being a pure FSP caused by mutations in the SPG4/SPAST gene on chromosome 2, encoding spastin.

Prenatal diagnosis
Prenatal testing is only available for pregnancies at increased risk if the disease-causing mutation has already been identified in the family.

HSP Support Group (UK)

Helpline: 01702 218184
Email: via website
Website: hspgroup.org

The Group is a Registered Charity in England and Wales No. 1109398. It provides information and support for people diagnosed with Hereditary Spastic Paraplegia and their families. It offers grants to members for wheelchairs or scooters.

Group details last updated October 2015.

In FH, there is a high level of blood LDL cholesterol and a greatly increased risk of coronary heart disease (CHD) at an early age. Xanthomas (fatty deposits) on the tendons of the back of the hand or Achilles tendon, corneal arcus (white ring around the iris) in younger people, and xanthelasmata (yellow deposits round the eye or eyelids) may be present.

Most children and young adults with FH have no symptoms, although fatty deposits start to appear in the arteries in childhood. Half of men and one quarter of women with FH who are not diagnosed develop heart disease including angina and heart attacks before age 50.

Very rarely children may have ‘double dose’ FH (homozygous FH). These children develop xanthomas in early childhood and heart disease in their teens.

FH is a genetic condition caused by mutations in the low-density lipoprotein receptor (LDLR), apoliprotien B (APOB) and protein convertase subtilisin/klexin (PCSK9) genes.

It is important to identify FH in childhood, particularly in families in which CHD occurs early in adult life. Diagnosis is achieved by taking a blood sample for a lipoprotein profile, or by genetic testing if the FH gene mutation if the family is known.

Effective treatment in lowering blood cholesterol is available using a combination of diet, drugs and lifestyle changes. A diet low in total and saturated fat can be followed by children over two years of age. Spreads and yoghurt drinks containing plant sterols and stanols can help to lower cholesterol. Parents may wish to seek guidance from a dietician experienced in lipid management and a specialist children’s lipid clinic.

Drug treatment is often used in children over 10 years at risk of CHD to lower cholesterol. The main class of drugs used are statins. These come in tablet form and work by slowing down the production of cholesterol in the liver. Statins are thoroughly tested, with few side effects in childhood and are very effective at lowering LDL cholesterol. Sometimes the type of statin used has to be changed because of side effects or to obtain a better effect.

Children with homozygous FH are treated during early childhood with high dose statin medication and plasma apheresis, where LDL cholesterol is removed from the blood at fortnightly intervals.

Inheritance patterns
FH is inherited in an autosomal dominant pattern, so an affected child will have one affected parent; the homozygous form is recessive and both parents will have FH. .

Prenatal diagnosis
If the gene mutation in the family is known, prenatal diagnosis of FH is possible but rarely required. It is not possible to find mutations in up to one third of individuals.

HEART UK

Helpline: 0345 450 5988
Email: ask@heartuk.org.uk
Website: heartuk.org.uk

The Group is a Registered Charity in England and Wales No. 1003904.  It offers information and support to anyone affected by raised cholesterol, including healthcare professionals. 

Group details last updated December 2014.

Symptoms of FD include:

• hypotonia (poor muscle tone)
• feeding difficulties
• poor growth
• lack of tears
• attacks of nausea with vomiting
• frequent lung infections
• difficulty maintaining body temperature
• erratic swings in blood pressure.

Older infants and young children with FD may hold their breath for long periods of time, which may cause cyanosis (a bluish appearance of the skin or lips) or fainting. Developmental milestones, such as walking and speech, are usually delayed, although some affected individuals show no signs of developmental delay. Other problems include:

• scoliosis (curvature of the spine)
• poor bone quality and increased risk of bone fractures
• kidney and heart problems.

About one-third of children with FD have learning disability. By adulthood, affected individuals often have increasing difficulties with balance and walking unaided.

Other problems that may appear in adolescence or early adulthood include lung damage due to repeated infections, impaired kidney function, and worsening vision due to the shrinking size (atrophy) of optic nerves, which carry information from the eyes to the brain.

‘Dysautonomia crisis’ is a group of symptoms that include nausea, high blood pressure, fast heart rate and a change in personality. It is usually caused by stress. Episodes can occur as frequently as daily, but some patients will never experience a crisis.

Changes (mutations) in the IKBKAP gene cause FD. The IKBKAP gene provides instructions for making a protein called IKK complex-associated protein (IKAP). This protein is found in a variety of cells throughout the body, including brain cells. The IKBKAP gene is located on the long arm of chromosome 9 (9q31). People of Ashkenazi Jewish ancestry are more likely to carry the mutation causing FD.

Diagnosis of FD is based on recognition of both sensory and autonomic dysfunction. Prior to the discovery of the FD gene, five criteria needed to be present to confirm the diagnosis: 1) a history of Ashkenazi Jewish ancestry, 2) a smooth appearance to the tongue, 3) lack of diffuse red area after a special skin test using histamine, 4) decreased or absent knee jerks, and 5) absence of overflow tears with emotional crying.  Now only DNA testing for the mutations in the IKBKAP gene provides a definitive diagnosis.

Treatment of the condition is designed to alleviate the symptoms experienced by somebody affected by the condition. There is no cure for FD. The absence of overflow tears requires frequent use of topical eye lubrication. Medication can help to regulate blood pressure, improve gastrointestinal problems and also relive some of the symptoms of dysautonomia crisis, such as nausea may be required. Surgery may be needed to protect the child from respiratory problems and to correct scoliosis. Due to decreased sense of taste, temperature and pain perception, the child will need particular protection from injury.

Inheritance patterns
FD is inherited in an autosomal recessive manner. Carriers are people that carry one copy of the mutated gene and therefore are not affected by the condition. It is recommended that couples of Ashkenazi Jewish ancestry should be offered carrier screening for FD.

Prenatal diagnosis 
Prenatal diagnosis is available for any couple who are aware that both of them are carriers.

Familial Dysautonomia United Kingdom (FDUK)

Email: committee@fd-uk.org
Website: familialdysautonomia.co.uk

The Society is a Registered Charity in England and Wales No. 285399 (previously known as the Dysautonomia Society of Great Britain). It provides information and support for individuals and families affected by Familial Dysautonomia in the UK.  

Group details last updated August 2014.

People with FAP usually have no symptoms unless the condition is not picked up until they develop large polyps or even bowel cancer. These can cause:

• blood in the faeces
• change in bowel habit (usually towards looser and more frequent motions)
• anaemia

There are some other features associated with FAP, including:

• adenomas (polyps) in the duodenum (part of bowel immediately beyond the stomach)
• osteomas (harmless bony lumps on the jaw or skull)
• epidermoid (skin) cysts
• desmoids (non-cancerous masses of scar-like tissue)

The large bowel polyps usually appear in adolescence, and grow very slowly. Left untreated they inevitably develop into bowel cancer, usually by the age of 40-50 years.

FAP is caused by a mutation (spelling mistake) in the APC gene.

Most individuals with FAP are known to be at risk because they have an affected parent. In around 90% of families the genetic spelling mistake causing FAP in that family can be identified, so family members can have a blood test to see whether or not they have inherited it. This is usually offered at around 12-14 years of age. If the genetic mutation in a family cannot be found, colonoscopy (telescope test via the anus) is used to look for bowel polyps, again starting from 12-14 years of age.

Once someone is diagnosed with FAP by genetic testing, a colonoscopy is needed to see how many polyps they have and how large they are.

The most important part of the management of FAP aims to prevent large bowel cancer by removing the pre-cancerous polyps. Usually this needs surgery to remove most or all of the large bowel. This is most commonly done in the late teens.

Follow-up is very important. Any remaining large bowel needs regular monitoring by endoscopy (flexible telescope), so that developing polyps can be removed. The duodenum (part of bowel immediately beyond the stomach) also needs to be examined regularly with a flexible endoscopy through the mouth, so that polyps there can be identified and treated.

Inheritance patterns
FAP is dominantly inherited. In about 80% of cases this is inherited from a parent. In the other 20% the affected person is the first in the family to have FAP, but can pass it on.

Prenatal diagnosis
Prenatal diagnosis by chorionic villus biopsy or amniocentesis is possible when a parent is affected and the gene mutation known. Pre-implantation genetic diagnosis is also available to allow an affected individual to have children free of the condition.

FAP Gene Support Group

Tel: 01664 566101
Email: enquiries@fapgene.com
Website: fapgene.com

Established in 2004, the FAP Gene Support Group provides support, information and education to those affected by Familial Adenomatous Polyposis and Gardner’s Syndrome (FAP), and aims to raise awareness of the condition. The Group also holds an annual, informal chat day.

Group details last reviewed November 2020.

Symptoms are often first recognised in late teenage years in shoulder muscles, but may start in earlier childhood or later adulthood. Facial weakness is often already present, but frequently overlooked until there are other symptoms. People may notice:   

• a rounded or ‘dropped’ shoulder
• shoulder blades sticking out (winging)
• thin upper arms
• the eyes remaining slightly open when asleep
• asymmetry in the lips or smile
• difficulty whistling, or drinking from a straw
• difficulty raising an arm above the head

Muscle weakness may progress to affect the ankles and legs; 10-20% of people eventually require a wheelchair. Some people can have mild hearing loss or changes to blood vessels at the back of the eye. Life span is not usually affected except if other conditions such as obesity or severe chest problems add to severe generalised muscle weakness.

FSHD is due to damage from the abnormal switching-on of a gene (DUX4) which is normally turned off in muscle cells. We believe this occurs in FSHD through an unravelling of a normally tightly packed repeated section of DNA on chromosome 4 which includes this gene.  

FSHD is diagnosed clinically from the pattern of muscle weakness and family history, and confirmed by testing DNA from blood for the specific repeated section. Most people (90-95%) have FSHD1 with too few repeats, but some have FSHD2 with alteration in a completely separate (chromosome 18) gene (SMCHD1) which influences the DNA packing. Sampling of muscle tissue is not required as muscle cells in FSHD do not show specific features.

There is currently no specific treatment. Regular light exercise is recommended; exhaustive exercise should be avoided. Physiotherapy and posture exercises, ankle splints, and surgery to fix the shoulder blades can all play a role. For the eyes; artificial tears, eyelid surgery, and laser treatment to the retina can be offered. Current research is exploring ways to block or reduce the abnormal stimulation of the DUX4 gene.

Inheritance patterns
For someone with FSHD1, inheritance is autosomal dominant, which means there is a 50% chance that their children will have the condition. In FSHD2 this chance falls between 25 and 50%, as both an SMCHD1 gene alteration and a particular chromosome 4 DNA pattern are required. 

Around 10% of FSHD occurs by new alteration in the DNA, particularly in children with the most severe presentation (and almost never in adults with the mildest presentation). A new alteration is often present in some of the cells in one parent of an affected child, despite the parent having no symptoms.  

Prenatal diagnosis
Prenatal testing by chorionic villous sampling at 11 weeks is possible if the DNA alteration in the parent is known. Preimplantation genetic diagnosis in FSHD could be considered in some cases.

FSH-MD Support Group

Tel: 020 7803 4800
Email: fshgroup@hotmail.com
Website: fsh-group.org

The Group is a Registered Charity in England No: 205395 and Scotland No: SC039445. It provides information and support to those with FSH-MD and their carers, family and friends.

Group details last updated December 2014.

As facioscapulohumeral muscular dystrophy is a form of muscular dystrophy, advice and information about the condition is also available from the Muscular Dystrophy Campaign (see entry Congenital Muscular Dystrophy).

Changing Faces

Helpline: 0300 012 0275
Email: support@changingfaces.org.uk
Website: changingfaces.org.uk

Changing Faces is a Registered Charity in England and Wales No. 1011222, and in Scotland No. SC039725. It provides information and support to adults, children, young people and parents of those who live with conditions, marks or scars that affect their appearance. Iface is the organisation’s Facebook page for young people aged 13-25.  

Group details last updated December 2014.

Facial Palsy UK

Tel: 0300 030 9333
Email: info@facialpalsy.org.uk
Website: facialpalsy.org.uk

Facial Palsy UK is a Registered Charity in England and Wales No. 1148115.  It provides information and support for people affected by facial paralysis, including specific information for children and young adults. 

Group details last updated January 2016.

Let’s Face It

Tel: 01843 833724
Email: chrisletsfaceit@aol.com
Website: lets-face-it.org.uk

The Organisation is a Registered Charity in England and Wales No. 1011222. It provides information, support and advice to anyone with a facial disfigurement and their family. The Organisation publishes a regular newsletter, has a range of information available, including information on medical developments for those with facial disfigurement.

Group details last updated October 2015.

Symptoms of the classic form, in males with low activity of the enzyme, usually become apparent in childhood or adolescence. They include:

• acroparesthesias (severe pain in the hands and feet)
• angiokeratomas –  small dark red/purple raised spots composed of surface dilated capillaries (small blood vessels)
• hypohidrosis (reduced sweating)
• cloudiness of the front part of the eye (corneal opacity)
• bowel disturbance
• tinnitus.

Gradual deterioration of kidney function usually occurs in men. They may also develop heart problems such as an enlarged heart and neurological problems, including stroke. Males with a higher level of enzyme activity are more mildly affected. They show features later in life, mostly with heart or kidney problems with few of the other symptoms.

Females typically have milder symptoms at a later age of onset than males. However, this is very variable. Some females may be relatively asymptomatic (have no symptoms) throughout a normal life span or may have symptoms as severe as those observed in males.

In males demonstration of low alpha-gal A activity in blood, or skin cells that are grown in the laboratory (cultured) can make a diagnosis. In females, measurement of alpha-galactosidase A activity is unreliable. Molecular genetic testing of the gene encoding the alpha-galactosidase A enzyme is the most reliable method for identification of females with Fabry disease.

The introduction of enzyme replacement therapy has offered the opportunity to treat the underlying cause of Fabry disease. Intravenous infusion of recombinant alpha-galactosidase An enzyme has been shown to clear deposits of GB-3, stabilise kidney function, reduce heart size and significantly improve pain and quality of life. Enzyme is administered intravenously every two weeks. In the UK most patients receive enzyme replacement at home. Oral treatment is also approved and will be suitable for some patients.

Other treatments can be given to relieve the symptoms of Fabry disease. For example, nerve pain can be treated using antiepileptic drugs such as gabapentin and carbamezapine. Angiokeratomas may be removed or treated with laser therapy. Standard therapies such as aspirin, antihypertensives, ace-inhibitors for protein in the urine and anti-cholesterol agents are used to treat the renal (kidney), cardiovascular and vascular symptoms of the disease.

Inheritance patterns
Fabry disease is inherited in an X-linked manner. Affected families should be referred to a genetics centre for information and support.

Prenatal diagnosis
Prenatal testing is available for affected families by either chorionic villus sampling (CVS) or amniocentesis. Preimplantation genetic diagnosis may be available for families in which the disease causing mutation has been identified.

Information and support in the UK for Fabry disease is available from the MPS Society (see entry Mucopolysaccharide diseases and Associated diseases).