Gordon syndrome
| Gordon syndrome | |
|---|---|
| Other names | Camptodactyly-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
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
- ^ a b "Gordon Syndrome". NORD (National Organization for Rare Disorders). Retrieved 15 April 2019.
- ^ a b "Gordon syndrome | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". rarediseases.info.nih.gov. Retrieved 15 April 2019.
- Gordon syndrome. Orphanet. February 2005; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=376. Accessed 12/4/2012.