Digitotalar dysmorphism (Q104859): Difference between revisions
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O dismorfismo digitotalar ou artrogripose distal tipo 1 é uma anomalia congênita autossômica dominante caracterizada por contraturas das regiões distais das mãos e pés sem anomalias adicionais. É o tipo mais comum de artrogripose distal. A expressividade é variável e os pacientes podem apresentar camptodactilia, polegares em cruz sem extensão, dedos em relevo, desvio ulnar dos dedos, pé torto, tálus vertical. O envolvimento facial geralmente está ausente. As mãos estão mais frequentemente envolvidas do que os pés. Vários genes que codificam proteínas no sarcômero foram implicados. | |||
| description / en | description / en | ||
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. | |||
Revision as of 10:43, 17 August 2026
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 |
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| 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. |
