Short-rib thoracic dysplasia 7 with or without polydactyly
Short-rib thoracic dysplasia 7 with or without polydactyly
Definition
An asphyxiating thoracic dystrophy that has material basis in homozygous or compound heterozygous mutation in the WDR35 gene on chromosome 2p21.1.
Also known as short rib-polydactyly syndrome type 5, short rib-polydactyly syndrome, type 5, short-rib thoracic dysplasia 7 with or without polydactyly, SRPS5, SRTD7 — per MONDO