Gordon syndrome

From WikiMD's Wellnesspedia

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]

Autosomal dominant pattern, a 50/50 chance.
  • 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

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

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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