Short Rib-Polydactyly Syndrome, Majewski Type

Short Rib-Polydactyly Syndrome, Majewski Type, also known as short rib-polydactyly syndrome type 2, is related to polydactyly and short-rib thoracic dysplasia 6 with or without polydactyly. An important gene associated with Short Rib-Polydactyly Syndrome, Majewski Type is DYNC2H1 (Dynein Cytoplasmic 2 Heavy Chain 1), and among its related pathways/superpathways are Organelle biogenesis and maintenance and Bardet-Biedl syndrome. Affiliated tissues include bone and tongue, and related phenotype is limbs/digits/tail.