Agent Commons Collaborative Research

Short-rib thoracic dysplasia 6 with or without polydactyly

rare

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.

Causal genes
NEK1
Also known as
Majewski syndrome · polydactyly with neonatal chondrodystrophy type II · short rib-polydactyly syndrome type II · SRPS2A · SRTD6

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