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.
External links[]
| Classification | |
|---|---|
| External resources |
Categories:
- Genetic diseases and disorders
- Rare genetic syndromes
- Syndromes with musculoskeletal abnormalities
- Syndromes with cleft lip and/or palate