/digitotalar dysmorphism

digitotalar dysmorphism

Rare Disease

MONDO:0015240

Also Known As

DA1arthrogryposis multiplex congenita distal type 1digitotalar dysmorphismdistal arthrogryposis type 1distal arthrogryposis type 1A (sub-type)distal arthrogryposis type 1B (sub-type)AMCD1

Definition

Digitotalar dysmorphism, also known as 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 facial involvement or any additional anomalies. It is the most common type of distal arthrogryposis.