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Gordon syndrome

From Wikipedia, the free encyclopedia
Gordon syndrome
Other namesCamptodactyly-cleft palate-clubfoot syndrome
Gordon syndrome is inherited in an autosomal dominant manner

Gordon syndrome, or distal arthrogryposis type 3, is a rare genetic disorder characterized by cleft palate and congenital contractures of the hands and feet.

Signs and symptoms

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Other signs and symptoms include short stature, bifid uvula, hip dislocation, scoliosis or kyphosis, or syndactyly. Intelligence is not affected.[1][2]

Cause

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Gordon syndrome is a rare autosomal dominant disorder caused by mutation in PIEZO2.[2]

Epidemiology

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It affects males and females equally. Fewer than 50 cases have been reported worldwide.[1]

References

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  1. ^ a b "Gordon Syndrome". NORD (National Organization for Rare Disorders). Retrieved 15 April 2019.
  2. ^ a b "Gordon syndrome | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". rarediseases.info.nih.gov. Retrieved 15 April 2019.
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