Short-rib thoracic dysplasia 20 with polydactyly
Short-rib thoracic dysplasia 20 with polydactyly
Definition
A group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof.
Also known as short-rib thoracic dysplasia 20 with polydactyly — per MONDO