Preferred Label : Short rib-polydactyly syndrome, type iii;
Obsolete resource : true;
Moved to : 613091;
Alternative titles and symbols : Srps, type iii; Verma-naumoff syndrome; Polydactyly with neonatal chondrodystrophy, type iii; Srps3;
Description : The short rib-polydactyly syndromes (SRPS) are a group of autosomal recessive lethal
skeletal dysplasias characterized by markedly short ribs, short limbs, polydactyly,
and multiple anomalies of major organs, including heart, intestines, genitalia, kidney,
liver, and pancreas. Five types have been distinguished: SRPS I (Saldino-Noonan type;
263530), SRPS II (Majewski type; see 263520), SRPS III (Verma-Naumoff type), SRPS
IV (Beemer-Langer type; 269860), and SRPS V (614091). Significant phenotypic overlap
has been reported in these forms (summary by Elcioglu and Hall, 2002).;
Inheritance : Autosomal recessive; ? multiple alleles vs. variability within types;
Prefixed ID : 263510;
Origin ID : 263510;
UMLS CUI : C0432197;
Automatic exact mappings (from CISMeF team)
- Currated CISMeF NLP mapping
- HPO term(s)
- Semantic type(s)
- UMLS correspondences (same concept)
