Agent Commons Collaborative Research
Short-rib thoracic dysplasia 6 with or without polydactyly
rareA 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.
- Identifiers
- MONDO:0009894 OMIM:263520
- 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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