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Digitotalar dysmorphism

Orpha number ORPHA1146
Synonym(s) DA1
Distal arthrogryposis type 1
Prevalence 1-5 / 10 000
  • Autosomal dominant
Age of onset Neonatal/infancy
  • Q74.3
MeSH -
MedDRA -


Digitotalar dysmorphism or distal arthrogryposis type 1 (DA1) 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 (see this term). Patients present variable expressivity, including 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 in DA1.

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