/short-rib thoracic dysplasia 6 with or without polydactyly

short-rib thoracic dysplasia 6 with or without polydactyly

Rare Disease

MONDO:0009894

Also Known As

Majewski syndromeSRPS2ASRTD6polydactyly with neonatal chondrodystrophy type IIpolydactyly with neonatal chondrodystrophy, type IIshort rib-polydactyly syndrome type IIshort rib-polydactyly syndrome type IIAshort-rib thoracic dysplasia 6 with or without polydactylySrps, type 2polydactyly with neonatal chondrodystrophy, type 2short rib-polydactyly syndrome, type 2short rib-polydactyly syndrome, type 2A

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.