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Don’t fight Gordon syndrome alone.
Find your community on the free RareGuru App.Gordon Syndrome is a rare, inherited disorder that affects movement in the joints of the upper and lower limbs, also known as distal arthrogryposis. People with this disorder can be born with several fingers fixed in a flexed position (camptodactyly), clubfoot, and an opening in the roof of the mouth (cleft palate). Their joints are often very stiff or unable to move. Intelligence is usually normal. The range and severity of symptoms may vary from person to person.
Gordon syndrome is caused by genetic changes (mutations) in the PIEZO2 gene and can be inherited in an autosomal dominant pattern. Gordon syndrome is diagnosed by clinical examination and genetic testing. Treatment is directed at the symptoms and includes surgery and physical therapy to loosen the joints. People with Gordon syndrome often have reduced mobility, but Gordon syndrome doesn't usually result in other health problems.
Source: GARD Last updated on 05-01-20
The symptoms of Gordon syndrome are present at birth and can include curved fingers (camptodactyly), club feet, and an opening in the roof of the mouth (cleft palate). The joints of the arms and legs including the wrists, elbows, knees and/or ankles may be stiff or unable to move. The range and severity of features can vary from person to person. Intelligence is usually normal.
Other signs and symptoms may include:
• A split in the soft hanging tissue at the back of the throat (bifid uvula)
• Short stature
• Hip dislocation
• Abnormal backward or side to side curvature of spine (scoliosis)
• Drooping of the eyelids (ptosis)
• An extra skin fold at the corner of the eyes (epicanthal folds)
• Webbing of the fingers and/or toes (syndactyly)
• A short, webbed neck (pterygium colli)
• Undescended testes in males (cryptorchidism)
Last updated on 05-01-20
Gordon syndrome is caused by mutations in the piezo-type mechanosensitive ion channel component 2 ( PIEZO2 ) gene. This gene makes a protein that is found in many organs of the body, but its exact function is unknown. Mutations in the PIEZO2 gene are also found in people with distal arthrogryposis type 5 and Marden Walker syndrome. The features of these conditions are like those seen in Gordon syndrome. Some researchers consider Gordon syndrome, distal arthrogryposis type 5 and Marden Walker syndrome to be the same condition with slightly different features.
Last updated on 05-01-20
Gordon syndrome is diagnosed by looking for the signs and symptoms associated with the syndrome. Genetic testing of the PIEZO2 gene can aid in the diagnosis.
Last updated on 05-01-20
Gordon syndrome is inherited in families in an autosomal dominant manner. All individuals inherit two copies of each gene. In autosomal dominant conditions, an individual has a disease-causing mutation in only one copy of the gene that causes the person to have the disease. The mutation can be inherited from a parent. Some people are born with Gordon syndrome as the result of a new genetic mutation (de novo) in the PIEZO2 gene, and do not have a history of this syndrome in their family.
Each child of an individual with Gordon syndrome has a 50% or 1 in 2 chance of inheriting the mutation and the disorder. The signs and symptoms of Gordon syndrome can be different from person to person even within the same family.
Last updated on 05-01-20
People with Gordon syndrome may have reduced mobility, but Gordon syndrome is not known to impact long-term health. Distal arthrogryposis type 5 (DA5) is associated with eye problems and Marden Walker syndrome is associated with mild intellectual impairment, both of which may impact long term health. Gordon syndrome, DA5 and Marden Walker syndrome are caused by mutations in the PIEZO2 gene, and some researchers consider them to all be the same condition with slightly different features.
Last updated on 05-01-20
Gordon syndrome is very rare, and its exact prevalence is unknown. One paper found that about 140 people with this syndrome or a closely related syndrome have been reported in the literature.
Last updated on 05-01-20
There is no specific treatment for Gordon syndrome. Physical therapy and surgery can help improve joint mobility.
Last updated on 05-01-20
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