Condition AZ: g

gain (was the Guillain-Barré Syndrome Support Group)

Helpline: 0800 374 803
Email: via website
Website: gaincharity.org.uk

The Group is a Registered Charity in England and Wales No. 1154843 and Scotland No. SC039900. It provides information and support to those affected by Guillain-Barré syndrome, chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) and other associated inflammatory neuropathies, and funds research into these illnesses.

Group details last reviewed March 2023.

Children with GHD are very short, but they have normal body proportion, facial appearance and levels of intelligence. Children may look chubby as growth hormone helps to control the layer of fat under skin. Their facial features may develop slower than usual causing them to appear younger than their age. Hypoglycaemia (low blood sugar) may occur in young children.

Most cases of GHD are idiopathic, meaning they are of no known cause. The pituitary gland or the connections to it can be damaged at birth or by severe head injury. Sometimes the connection between the hypothalamus and pituitary gland doesn’t work properly.

Underdevelopment of the pituitary gland may occur during fetal development. Midline brain abnormalities that develop in early fetal life may be associated with various pituitary hormone deficiencies. GHD and multiple pituitary hormone deficiency may also occur in association with tumours of the brain or as a secondary complication of the treatment of childhood cancer, usually associated with irradiation of the brain.

Genetic abnormalities are now being found to be an important cause of pituitary hormone deficiency. Growth hormone deficiency has been observed to run in families in a small group of children (around 3%).

It is difficult to assess growth hormone (GH) levels as these change from hour to hour. Provocation testing involves bringing on a surge of GH using insulin or other substances, such a glucagon. Exercise tests involve using exercise to stimulate GH secretion.

Other features of GHD may be useful to help diagnose the condition, including magnetic resonance imaging (MRI) or computed tomography (CT) scans of the pituitary gland. Bone growth may be assessed by taking an X-ray in the left hand and wrist – this establishes how much future growth may be possible.

If GH levels are low but not low enough to make a diagnosis of GHD, then growth will be monitored and treatment may not be needed. GHD is treated using a synthetic (man-made) form of GH to stimulate growth, administered as a daily subcutaneous injection (under the skin). Some children and young people with GHD will have low or absent levels of gonadotrophin hormones that cause puberty and sexual development. Additional treatment may be required to manage this.

Inheritance patterns
This is dependent the cause of the GHD. Most cases are not inherited.

Prenatal diagnosis
None.

Information and support in the UK for growth hormone deficiency is provided by the Child Growth Foundation (see entry Restricted Growth).

The infection develops most commonly during labour, while the baby is still in the womb or in the first 24 hours after birth. The baby is either unwell at birth or rapidly becomes unwell, will not feed and will have difficulty breathing. This is called ‘early onset disease’ (defined as from birth up to seven days of life) and accounts for over 80% of cases. A less common form of the infection affects babies from seven days after birth up until about three months of age; this is called ‘late-onset disease’ and is not currently preventable by any known strategy. Infections acquired 48 hours or more after birth are often complicated by meningitis as well as septicaemia (blood poisoning).

In almost all cases of early onset disease, the source of the organism is the mother’s vagina or gastrointestinal tract. Group B Streptococcus is a common organism, which resides in the vagina of millions of women and generally does not lead to any illness. Of all the babies born to mothers who carry the group B Streptococcus, only a small minority will develop infection (as opposed to colonisation, which is where the baby carries the bacterium but it does not cause an infection). There is no way to eradicate group B Streptococcus in the mother by using antibiotics, diet or lifestyle change.

If infection with group B Streptococcus is suspected, tests will need to be carried out. This may be in the form of a blood test, or a lumbar puncture (where a small amount of fluid from around the baby’s spinal cord is collected).

Administering penicillin (or another antibiotic if the mother is allergic) to the mother from the onset of labour in high-risk cases will prevent the majority of early onset infections. Those at higher risk can include: those with a raised temperature in labour, a previous episode of group B Streptococcal bladder infection, a history of a previous child that had a group B Streptococcal infection, and women known to be colonised with group B Streptococcus. It is thought by some to be a good idea to give antibiotics to all women in preterm labour, as a precaution. The antibiotic should be given intravenously (into a vein) at the onset of labour and should be continued at four hourly intervals until the baby is delivered.

Inheritance patterns
Not applicable.

Prenatal diagnosis
A test is available that establishes whether the mother is carrying group B Streptococcus in late pregnancy. Swabs are taken from the anus and lower vagina at 35 to 37 weeks of pregnancy. If the swab shows that the mother is a group B Streptococcus carrier, the risk of group B Streptococcal infection in the baby is increased approximately three fold. Routine screening is not currently advocated in the UK by the UK National Screening Committee or by the Royal College of Obstetricians and Gynaecologists, but testing is available for women with risk factors, or who request it. Both organisations recommend offering antibiotics during labour if the mother is known to be a carrier of group B Streptococcus.

Group B Strep Support

Tel: 01444 416 176
Email: [email protected]
Website: gbss.org.uk

The Organisation is a Registered Charity in England and Wales No. 1112065. It provides information and raises awareness of Group B Streptococcus infection in newborn babies, and offers support to affected families. 

Group details last updated November 2014.

The number of basal cell carcinomas and age of onset of both can vary greatly from member to member within an affected family. Harmless inherited abnormalities in bones (such as doubling of the ends of the ribs) are common. There is a tendency to lay down calcium deposits (also harmless) in other parts of the body which are identifiable on X-rays. Although not common, cleft lip and palate (see entry Cleft Lip and/or Palate), an extra finger, stiff thumbs, stiff great toes and eye problems are also part of the condition. People with Gorlin syndrome are often tall and have a larger head circumference than usual.

Gorlin syndrome is caused by a change (mutation) in the PTCH1 gene (also known as PTCH), which is located on chromosome 9. Someone with Gorlin syndrome has a normal copy of the gene on one chromosome 9, but a copy of the altered gene on the other chromosome 9.

It may be possible to confirm the diagnosis on the basis of an examination by a doctor and X-rays. Testing of the PTCH1 gene is possible to identify the change in the gene.

It is important that people with Gorlin syndrome have regular screening of the skin and jaws so that the localised skin cancers and jaw cysts can be removed before they cause further problems.

It is strongly recommended that the skin cancers are not treated by radiotherapy because this can be associated with the appearance of multiple new skin cancers in the treated area. Other treatments such as surgery, cryotherapy (freezing), photodynamic (light) therapy, and certain medications can be used and are very effective. Jaw cysts are treated using surgery.

Inheritance patterns
For some affected by the condition, it is transmitted in an autosomal dominant manner inherited from a parent. In other families, where there is just one affected person, the affected person’s condition is caused by a sporadic change occurring for the first time in the PTCH1 gene (a new mutation that occurs by chance). That person’s children would be at risk of inheriting it in an autosomal dominant manner.

Prenatal diagnosis
When the change in the PTCH1 gene has been identified in an affected a family, molecular testing (testing DNA) of cells obtained from the mother during pregnancy either via amniocentesis or chorionic villus sampling will identify the changed PTCH1 gene.

Gorlin Syndrome Group

Tel: 01772 496849
Email: [email protected]
Website: gorlingroup.org

The Gorlin Syndrome Group is a Registered Charity in England and Wales No. 1096361; established in 1992. It is a support network offering guidance and information to patients; their families and carers whose lives are affected by Gorlin Syndrome. The Group is organised by patients affected by Gorlin Syndrome and their families; with support from medical advisers.

Group details last updated July 2015.

The muscles of the affected side of the face are under-developed and there are often skin tags or pits in front of the ear, or in a line between the ear and the corner of the mouth. There are often abnormalities of the middle ear and the ear canal may be completely absent. Hearing loss (one-sided) is extremely common.

There may also be eye abnormalities, including cysts and notches in the lids, squints and occasionally small eyes. Children at the Goldenhar end of the spectrum may, in some cases, have heart problems. A variety of kidney abnormalities may also be present and a number of other rarer congenital (present at birth) problems may occur. Most individuals with Goldenhar syndrome are of normal intelligence, although some learning difficulties (see Learning Disability) can occur in about 10-15 per cent of cases, usually language problems resulting from hearing loss. There may also be speech and swallowing problems. Many babies with Goldenhar syndrome have poor weight gain in the first year or two of life.

Small chromosome abnormalities or gene alterations have been found in a few cases but no consistent genetic abnormality (DNA change) has been identified as the condition’s cause. Various environmental causes have been suggested for the incorrect development of facial structures in a baby developing in the womb.

Diagnosis of Goldenhar syndrome is made by a doctor (eg a paediatrician or clinical geneticist) based on physical examination and history. As there is no identified commonly-associated DNA alteration, a definitive genetic test cannot be offered. A child will need full assessment of hearing and communication abilities and may require neck X-rays and possibly imaging of the kidneys (by renal ultrasound) and heart (by echocardiogram).

Early identification and treatment of hearing loss is important and speech therapy is often necessary. Help may be required with managing feeding problems and encouraging weight gain in early infancy. Any associated abnormalities, such as the congenital heart problems, may need appropriate treatment. Plastic surgeons can improve the growth of the face, particularly the jaw, by techniques including the use of a device which can artificially lengthen the jaw bone. Children with Goldenhar syndrome may also need on-going orthodontic treatment.

Inheritance patterns
Goldenhar syndrome is, in most cases, sporadic (occurring by chance). Only a few familial cases (more than one case in a family) have been reported. In non-familial cases (with no other individuals affected by this condition in the same family), the chance of having another affected child is usually small.

Prenatal diagnosis
Prenatal ultrasound scanning may identify the condition in certain cases where facial or skeletal abnormalities are present. For affected families, genetic advice may be offered for future pregnancies.

Goldenhar UK

Email: [email protected]
Website: goldenhar.org.uk

The Group is a Registered Charity in England and Wales No. 1099642.  It provides information and support to families who have children with Goldenhar Syndrome , and normally organises annual Family Days to allow the families to meet, eat, drink and talk together.

Group details last updated July 2020.

Features present in most individuals:

• mild-to-moderate learning disability. This may cause particular difficulties with expressive speech
• typical facial features: highly arched eyebrows; synophrys (eyebrows joined in the middle); hypertelorism (widely spaced eyes); large ears and nose; sparse hair
• Hirschsprung’s disease (failure of the nerves in the lower bowel to work correctly, causing constipation or bowel obstruction)
• microcephaly (reduced head size)
• restricted growth, (ie height in the lower end of the normal range for age).

Features present in some cases:

• cleft palate (see entry Cleft Lip and/or Palate), or problems with palate function. This can lead to: feeding difficulties and excessive drooling and speech difficulties including ‘nasal’ sounding speech
• ptosis (drooping eyelids)
• magnetic resonance imaging (MRI) brain scan abnormalities: changes in the grooves of the brain (polymicrogyria) and other subtle abnormalities can sometimes be seen on high resolution scan
• gait and coordination problems – eg wide-based gait
• recurrent ear infections leading to hearing difficulties
• congenital heart problems (rare).

As children with GOSHS get older, as teens and young adults they may also develop problems with:

• corneal hypoasthesia (reduced sensation to the surface of the eye). This can cause recurrent eye infections if not monitored
• scoliosis or lordosis (increased curvature of the spine)
• decreased muscle strength – reported in two individuals to date.

In these instances, referral to an appropriate specialist is recommended at an early stage.

Gene alterations (mutations) in the KIAA1279 gene on chromosome 10.1 are known to cause GOSHS in some patients. Exactly how this gene works is not yet known. Gene alterations in KIAA1279 may interfere with growth and migration of young nerve tissue in a developing fetus. Gene testing for KIAA1279 is available in the Netherlands.

Inheritance patterns
Autosomal recessive. Genetic advice and counselling is available for families.

Prenatal diagnosis
This may be possible for some families with an affected child where KIAA1279 gene alterations have been identified.

There is no support group for Goldberg Shprinzten syndrome in the UK.

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.

Some GSDs affect the liver (I, IV, VI and IX), some the muscles (V and VII) and some affect both (type III).

Conditions affecting the liver cause liver enlargement with a tendency for low blood sugar. Untreated children with liver GSDs tend to be short; with enlarged abdomens and thin limbs. These problems improve dramatically with treatment. A few may develop problems of liver scarring and very occasionally liver tumours. In GSD I there can also be longer term problems with kidney disease. In GSD I there are 2 subtypes Ia and Ib. People with GSD Ib have an increased risk of infections because of a decrease in a particular type of white blood cell.

Disorders affecting muscle may cause muscle weakness or cramping. Excessive exercise may trigger bouts of muscle inflammation. The heart and respiratory (breathing) muscles may be affected, but not in all types.

All types of GSD are at risk of ostepaenia (decreased bone strength), which increases fracture risk in later life.

Type II GSD (see entry Pompe disease) is a disease of heart and muscle but is very different to the other GSDs.

It is possible to test for the levels of certain enzymes in a specialist laboratory but this may require a sample of affected tissue (eg liver). It is often more straightforward to look at the genes that provide the genetic blueprint/code to make the enzymes to see if any are faulty (mutated).

Treatment for GSD varies depending on the type.

Children with liver GSDs require frequent daytime feeding and often overnight continuous tube feeding to prevent low blood sugar and to improve growth. In older children and adults this may be replaced with regular starches that are slow releasers of energy.

Protein supplements may be used in GSD type III. Sometimes medicine is required to help the heart muscle.

In muscle GSDs there is little additional medical therapy. Regular but not excessive exercise is encouraged and occasionally if muscles are very weak additional mobility aids may be required.

The prognosis for patients with a liver GSD is usually good. The tendency to low blood sugar always improves with age although the more severely affected will still require regular treatment even as an adult.

Most patients with a muscle GSD will continue to have a degree of exercise limitation throughout life but will adjust to lead relatively normal lives. Occasionally the muscles may become progressively weaker.

Inheritance patterns
Autosomal recessive (types I, II, III, IV, V, VII, some IX), and X-linked (some IX).

Prenatal diagnosis
This is usually available if required by looking for the gene fault in a chorionic villus biopsy.

The Association for Glycogen Storage Disease UK 

Tel: 0300 123 2790
Email: via website
Website: agsd.org.uk

The Association is a Registered Charity in England and Wales No. 1132271. It provides information and support for individuals and families affected by Glycogen Storage Disease. The Association puts people in contact with each other, and holds conferences and workshops.

Group details last updated November 2024.

Further information, support and advice on glycogen storage diseases is available from Metabolic Support UK (see entry Inherited Metabolic diseases) and the Muscular Dystrophy Campaign (see entry Congenital Muscular Dystrophy).

Glaucoma UK

Helpline: 01233 648170
Email: [email protected]
Website: glaucoma.uk

The Association is a Registered Charity in England and Wales No. 274681 and in Scotland No. SC041550. It offers information, support and reassurance to those with the condition, their relatives and anyone who is concerned. The Association organises patient meetings, helps set up local support groups and funds clinical research projects.

Group details last reviewed March 2026.

Easy bruising is often noticed early and the diagnosis is usually made by the age of five years. The commonest problems are easy bruising, nose bleeds, heavy periods and gum bleeding. Prolonged bleeding has been reported after shedding of baby teeth and bleeding is of course prolonged after trauma and surgery.

Not all people with GT are affected to the same degree. Some people are severely affected, while others less so and have infrequent bleeding.

Overall, whilst bleeding after trauma or surgery may be severe, problems from spontaneous bleeding in day-to-day life are often mild. Affected women may have problems with excessive bleeding during their period.

In people with GT, a particular protein (called IIb IIIa) is either missing from the platelets or does not work properly. The result is that the platelets cannot stick together adequately to form the haemostatic plug and bleeding is not stopped even from minor injuries.

If the results of preliminary tests and the bleeding pattern suggest GT then specialised tests on an ordinary blood sample are required. DNA testing may also be helpful.

Episodes of bleeding can be treated in a number of ways depending on severity and urgency. Tablets or mouthwash of tranexamic acid may help by stabilising the clot. Bleeding will usually be arrested by transfusion of normal donor platelets. Sometimes an activated clotting factor called Factor VIIa (seven ‘a’) may be used.  

Bone marrow transplantation is the only treatment that offers a cure. This is a procedure that involves replacing patient bone marrow with healthy bone marrow stem cells, including platelets. However, this is generally considered more hazardous than the condition, except when bleeding is very severe. Nonetheless, this has successfully been performed in a number of cases.

Affected women often need hormonal treatment to reduce or suppress their periods. The oral contraceptive pill may be sufficient. Many patients, particularly women, become iron deficient as a result of frequent minor blood loss and regular iron supplements may be required.

Pregnancy in women affected by GT can be extremely hazardous, not only for the patient but for the child as well. Advice should be sought from a haematologist.

Drugs such as aspirin and ibuprofen (Nurofen, Cuprofen), which also inhibit platelet function should be avoided. Paracetamol is a useful alternative but there are others, contact your doctor for advice.

Inheritance patterns
Inheritance is autosomal recessive. Therefore carriers, (those that carry one copy of the mutated gene causing GT), are unaffected and it is more common in children whose parents are related.

Prenatal diagnosis
As the genetic basis for GT is known, identification of affected pregnancies can be performed at an early stage. Carriers can be identified by testing their platelets or by DNA testing.

Glanzmann’s Thrombasthenia Contact Group

Tel: 0161 368 0219
Email: [email protected]

This Group was established in 1990. It provides information and support to anyone affected by Glanzmann’s Thrombasthenia in the UK, and has close links with the Glanzmann’s Research Foundation in the USA. It has an active Facebook group. 

Group details last updated December 2014.

The onset of GACI may be either during the fetal period, neonatal period or later in infancy. The condition is usually fatal within the first year of life but a few individuals with the condition have survived into later childhood, or more rarely into adulthood. Longer survival is sometimes related to co-existence of a condition called hypophosphataemia (a condition in which a chemical called phosphate is present at lower than normal levels in the blood stream). Before birth, affected babies may develop heart failure resulting in impaired growth, hydrops fetalis (abnormal fluid accumulation) and sometimes stillbirth. At birth, affected babies show a sudden onset of feeding abnormalities followed by breathing problems and a rapid progression to death, which usually occurs before six to nine months as a result of intractable heart failure. Pre-term infants may have more severe and rapidly advancing symptoms than full-term infants. When GACI occurs in late infancy, complications may include severe systemic hypertension (high blood pressure) and cardiomyopathy (see entry Cardiomyopathies in Children).

GACI is a genetic condition. The gene affected in this condition is called ENPP1. This gene provides the basic instructions within the cell for manufacture of an enzyme called ecto-nucleotide pyrophosphatase/phosphodiesterase 1. This enzyme generates inorganic phosphate, which inhibits the formation of a particular type of crystal called hydroxyapatite. When the enzyme is deficient (as in GACI) there is a deficiency of inorganic phosphate and as a result calcium hydroxyapatite crystals deposit in the arteries.

In typical cases, the diagnosis will be suggested by the clinical problems. X-rays may identify calcification. Before birth, antenatal ultrasound may identify abnormalities suggestive of calcification. In the event of stillbirth or death of a child prior to a diagnosis being made, characteristic findings may be found on post-mortem examination. The diagnosis can be confirmed by genetic testing for mutation in ENPP1 gene.

Sadly, there is no curative treatment for GACI. A particular type of medication, called bisphoshonates, have been used to treat the condition in a small number of babies/children. Some have been found to have gradual disappearance of calcification when treated with bisphosphonates but others have died despite this treatment. Very occasionally, infants affected with the condition have been reported to have resolution of the calcification without any treatment. The use of bisphosphonates to treat GACI therefore remains uncertain.

Inheritance patterns
GACI is inherited as an autosomal recessive trait.

Prenatal diagnosis
Prenatal diagnosis is possible on routine ultrasound by observing areas within the major blood vessels that transmit stronger echoes than surrounding tissue. When cardiomyopathy and polyhydramnios (excess of amniotic fluid), are present prenatally, careful evaluation for calcification is prudent. Fetal heart failure may result in polyhydramnios, fetal hydrops (gross swelling of the fetus), and/or fetal death. If there is a family history of GACI, the condition can be screened for in subsequent pregnancies by genetic testing for mutations in ENPP1 following amniocentesis or chorionic villus sampling or by serial antenatal ultrasound scans to detect fetal hydrops.

GACI Global

Tel: +353-87-244-4488
Email: [email protected]
Website: gaciglobal.org

GACI Global is a nonprofit organization whose mission is to connect families affected by Generalized Arterial Calcification of Infancy or Hypophosphatemic Rickets caused by ENPP1or ABCC6 Deficiencies to each other and to the medical community.  The organization strives to provide current educational resources and supports ongoing research.

Their goal is to provide information about what complications can occur due to ENPP1 and ABCC6 Deficiencies (e.g. GACI, ARHR2) and to provide hope for families impacted by the condition.  They hope that their website, newsletter, and social media outlets act as a resource not only for medical information, but for personal support during your own GACI/ARHR2 journey.  Their community is small, but growing and they hope to offer support and information to families affected by this disorder around the world.

 Group details added October 2019

Mermaids

Helpline: 0808 801 0400
Email: [email protected]
Website: mermaidsuk.org.uk

The Organisation is a Registered Charity in England and Wales No. 1073991. It supports children and teenagers up to the age of 19 who are trying to cope with gender identity issues, and their parents and carers. The Organisation raises awareness about gender issues amongst professionals, and campaigns for the recognition of this issue and an increase in services.

Group details last reviewed June 2025.

The Gender Identity Research & Education Society (GIRES)

Email: via website
Website: gires.org.uk

The Society is a Registered Charity in England and Wales No. 1068137. It provides information and support to individuals and families affected by gender discomfort and transexualism. The Society offers support to schools, and produces a directory of the national and local groups that support trans people. 

Group details last reviewed March 2024.

There are three types of Gaucher disease.

Type 1– usually starts to cause problems in childhood and is characterised by an enlarged liver and spleen and low blood cell levels. Anaemia, tiredness, easy bruising and a tendency to bleed are common or finding an enlarged spleen incidentally (as a result of another investigation). The bone itself may become thin and more likely to break. Breathing can also be affected in older patients. There can be growths of tissue in the conjunctiva of the eye and increased pigmentation of the skin. There is no effect on the nervous system in type I disease.

Type 2– children usually appear normal at birth but symptoms develop within a few months and rapidly progress, with deterioration in the organs, enlargement of the liver and spleen and damage to the nervous system causing abnormal eye movements, unsteadiness, swallowing problems and seizures. Growth usually halts and the child may regress in learned skills. Sadly, most children die by the age of two years.

Type 3– in this type, there is also damage to the nervous system but it is later in onset and progresses more slowly.

Lack of glucocerebrosidase is due to a defect in the gene for acid beta-glucosidase or GBA. When glucocerebroside can’t be broken down properly, it accumulates within another type of cell called a macrophage (a cell that removes bacteria and other foreign bodies). Macrophages that accumulate glucocerebroside are called Gaucher cells, they are unable to function normally and gather in large amounts in the organs causing disruption to many of the body’s processes.

Diagnosis is based on observation of symptoms, and can be confirmed by a blood test.

Treatment for Gaucher disease helps to alleviate the symptoms but there is no cure. Previously, splenectomy (removal of the spleen) helped to control anaemia, and joint replacements were used to restore damaged joints. Nowadays, more effective treatments have been found that tend to limit these complications. There are now three licensed products for use in Gaucher disease with a fourth one that is only available in the USA and some other parts of the world due to licensing restrictions. A new substrate deprivation therapy (SRT) may also become available soon for specific groups of patients depending on further approvals.

In type I and 3 Gaucher disease, enzyme replacement therapy (ERT) or SRT is used to alleviate symptoms that result from damage to most of the organs, with improvements in organ enlargement, anaemia and bone damage but little effect on neurological disease. Other treatments include bone marrow transplantation. Gene therapy, chaperones and other new molecules may be an option in the future.

Inheritance patterns
Autosomal recessive inheritance. The most common form (type 1) affects under 1 in 60,000 of the general population but about 1 in 1,000 of Ashkenazi Jews. Not all of these individuals will show symptoms.

Prenatal diagnosis
Chorionic villus sampling at 10 to 12 weeks allows the condition to be diagnosed in the early stages of pregnancy if the genetic defect in the family is known. Families affected by the condition should receive genetic counselling.

Gauchers Association

Tel: 01453 549 231
Email: [email protected]
Website: gaucher.org.uk

The Association is a Registered Charity in England and Wales No. 1095657.  It provides information and support to those affected by Gaucher disease, and promotes awareness and research.

Group details last updatd June 2016.