Short-rib thoracic dysplasia 6 with or without polydactyly
Short-rib thoracic dysplasia 6 with or without polydactyly
Definition
A group of rare, autosomal recessive inherited disorders characterized by a constricted thoracic cage, short ribs, and a 'trident' appearance of the acetabular roof. Polydactyly may or may not be present. Other abnormalities include cleft lip and palate and abnormalities of the brain, eye, heart, liver, pancreas, intestine, kidney, and genitalia.
Also known as Majewski syndrome, polydactyly with neonatal chondrodystrophy type II, short rib-polydactyly syndrome type II, short-rib thoracic dysplasia 6 with or without polydactyly, SRPS2A, SRTD6 — per MONDO