Clinical features
The most frequent findings are congenital flexion of digits (camptodactyly), clubfeet (talipes equinovarus), cleft palate/uvula, ptosis, proportionate short stature, scoliosis and normal intelligence. As DA3 is not a primarily progressive myopathy, longterm prognosis is usually good.
Prevalence
The prevalence is unknown, but estimated to be very rare.
Inheritance
Distal arthrogryposis type 3 (DA3, Gordon syndrome, OMIM 114300) is an autosomal-dominant condition with variable expressivity, often as a result of a de novo mutation.