disease has basis in dysfunction of NEK1 short-rib thoracic dysplasia 6 with or without polydactyly 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. DOID:0110092 ICD10:Q77.2 MONDO:0009894 Majewski syndrome NCIT:C122654 OMIM:263520 SRPS2A SRTD6 Srps, type 2 polydactyly with neonatal chondrodystrophy type II polydactyly with neonatal chondrodystrophy, type 2 polydactyly with neonatal chondrodystrophy, type II short rib-polydactyly syndrome type II short rib-polydactyly syndrome type IIA short rib-polydactyly syndrome, type 2 short rib-polydactyly syndrome, type 2A short-rib thoracic dysplasia 6 with or without polydactyly Jeune syndrome short rib-polydactyly syndrome, Majewski type