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.
MONDO:0019942
distal arthrogryposis
is_a
DA5D
exact
ECEL1 distal arthrogryposis
exact
arthrogryposis, distal, type 5D
related
distal arthrogryposis caused by mutation in ECEL1
exact
distal arthrogryposis type 5 without ophthalmoparesis
exact
distal arthrogryposis type 5 without ophthalmoplegia
exact