Preferred Label : Digitotalar dysmorphism;
ICD-11 definition : Digitotalar dysmorphism or distal arthrogryposis type 1 is an autosomal dominant congenital
anomaly characterized 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.;
ICD-11 synonym : Distal arthrogryposis type 1;
Origin ID : 1679749810;
Automatic exact mappings (from CISMeF team)
- Currated CISMeF NLP mapping
- Validated automatic mappings to BTNT
Digitotalar dysmorphism or distal arthrogryposis type 1 is an autosomal dominant congenital
anomaly characterized 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.
