Distal arthrogryposis type 5D

Distal arthrogryposis type 5D is a rare subtype of distal arthrogryposis syndrome characterized by arthrogryposis multiplex congenita affecting the hands, feet, ankle, shoulders and/or neck, with camptodactyly of the fingers and limited knee and hip extension, associated with asymmetric ptosis and, less frequently, other ocular manifestations (e.g. ophthalmoplegia, strabismus). Affected individuals frequently have a bulbous nose, furrowed tongue, micro/retrognathia, a short neck, congenital hip dislocation, club feet, scoliosis and short stature.

Also known as: DA5D, ECEL1 distal arthrogryposis, distal arthrogryposis caused by mutation in ECEL1, distal arthrogryposis type 5 without ophthalmoparesis, distal arthrogryposis type 5 without ophthalmoplegia, arthrogryposis, distal, type 5D

1 clinical trial for this condition and its sub-types, 0 tagged with Distal arthrogryposis type 5D itself.