Gordon syndrome

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

Gordon syndrome
Other namesCamptodactyly-cleft palate-clubfoot syndrome
Gordon syndrome is inherited in an autosomal dominant manner

Signs and symptoms

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

Cause

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

Epidemiology

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

References

  1. "Gordon Syndrome". NORD (National Organization for Rare Disorders). Retrieved 15 April 2019.
  2. "Gordon syndrome | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". rarediseases.info.nih.gov. Retrieved 15 April 2019.
This article is issued from Wikipedia. The text is licensed under Creative Commons - Attribution - Sharealike. Additional terms may apply for the media files.