Digitotalar dysmorphism (Q104859)
From determinar.ia.br - Determine suas informações
Digitotalar dysmorphism or distal arthrogryposis type 1 is an autosomal dominant congenital anomaly characterised by contractures of the distal regions of the hands and feet with no additional anomalies. It is the most common type of distal arthrogryposis. Expressivity is variable and patients may present camptodactyly, clasped thumbs without extension, overriding fingers, ulnar deviation of the fingers, clubfoot, vertical talus. Facial involvement is typically absent. The hands are most frequently involved than the feet. Multiple genes encoding proteins in the sarcomere have been implicated.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_1679749810 |
||
| English | Digitotalar dysmorphism |
Digitotalar dysmorphism or distal arthrogryposis type 1 is an autosomal dominant congenital anomaly characterised by contractures of the distal regions of the hands and feet with no additional anomalies. It is the most common type of distal arthrogryposis. Expressivity is variable and patients may present camptodactyly, clasped thumbs without extension, overriding fingers, ulnar deviation of the fingers, clubfoot, vertical talus. Facial involvement is typically absent. The hands are most frequently involved than the feet. Multiple genes encoding proteins in the sarcomere have been implicated. |
