Gordon syndrome
Alternate names[edit | edit source]
Arthrogryposis distal type 3; Distal arthrogryposis type 3; DA3; Camptodactyly, cleft palate, and clubfoot
Definition[edit | edit source]
Gordon Syndrome is a rare, inherited disorder that affects movement in the joints of the upper and lower limbs, also known as distal arthrogryposis.
Epidemiology [edit | edit source]
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.
Cause[edit | edit source]
- 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. S
- ome researchers consider Gordon syndrome, distal arthrogryposis type 5 and Marden Walker syndrome to be the same condition with slightly different features.
Inheritance[edit | edit source]
- 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.
Signs and symptoms[edit | edit source]
- 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)
For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. 80%-99% of people have these symptoms
- Camptodactyly of finger(Permanent flexion of the finger)
- Talipes
30%-79% of people have these symptoms
- Decreased muscle mass
- High palate(Elevated palate)
5%-29% of people have these symptoms
- Cleft palate(Cleft roof of mouth)
- Clinodactyly of the 5th finger(Permanent curving of the pinkie finger)
- Cryptorchidism(Undescended testes)
- Facial asymmetry(Asymmetry of face)
- Finger syndactyly
- Hearing impairment(Deafness)
- Limitation of joint mobility(Decreased joint mobility)
- Ophthalmoplegia(Eye muscle paralysis)
- Pectus excavatum(Funnel chest)
- Scoliosis
- Short stature(Decreased body height)
1%-4% of people have these symptoms
- Global developmental delay
- Intellectual disability, mild(Mental retardation, borderline-mild)
Diagnosis[edit | edit source]
- 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.
Treatment[edit | edit source]
There is no specific treatment for Gordon syndrome. Physical therapy and surgery can help improve joint mobility.
Prognosis[edit | edit source]
People with Gordon syndrome may have reduced mobility, but Gordon syndrome is not known to impact long-term health.
NIH genetic and rare disease info[edit source]
Gordon syndrome is a rare disease.
Gordon syndrome Resources | |
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Contributors: Prab R. Tumpati, MD