Preferred Label : Short rib-polydactyly syndrome, type iib;
Obsolete resource : true;
Moved to : 613091;
Alternative titles and symbols : Srps, type iib; Majewski syndrome; Srps2b;
Description : The diagnostic criteria for short rib-polydactyly type II (Majewski syndrome) include
short and narrow thorax, horizontally oriented ribs, short tubular bones with smooth
ends, ovoid tibiae that are shorter than the fibulae or tibial agenesis, and pre-
and/or postaxial polysyndactyly (summary by El Hokayem et al., 2012). Mutation in
the DYNC2H1 gene has also been implicated in SRPS III (263510). Additionally, there
is evidence that short rib-polydactyly type II can be caused by digenic biallelic
mutation in the NEK1 (604588) and DYNC2H1 genes.;
Inheritance : Autosomal recessive; Digenic recessive;
Molecular basis : Caused by mutation in the dynein, cytoplasmic 2, heavy chain 1 gene(dync2h1, 603297.0017);
Prefixed ID : 615087;
Origin ID : 615087;
UMLS CUI : C0024507;
Automatic exact mappings (from CISMeF team)
- Currated CISMeF NLP mapping
- Semantic type(s)
- UMLS correspondences (same concept)
