Conditions / Musculoskeletal

distal arthrogryposis type 3

info · Musculoskeletal

A distal arthrogryposis characterized by distal arthrogryposis with short stature and cleft palate that has_material_basis_in heterozygous mutation in the PIEZO2 gene on chromosome 18p11.22-p11.21.

Signs and symptoms

Down-sloping shoulders
Short stature
Micrognathia
Epicanthus
Congenital hip dislocation
Camptodactyly of finger
Decreased muscle mass
Ulnar deviation of the hand or of fingers of the hand
Lumbar hyperlordosis
Overlapping toe

Also known as: DA3; Gordon syndrome; camptodactyly-cleft palate-clubfoot syndrome; distal arthrogryposis multiplex congenita type IIA