Preferred Label : Short rib-polydactyly syndrome, type i;
Obsolete resource : true;
Moved to : 613091;
Alternative titles and symbols : Srps1; Srps, type i; Saldino-noonan syndrome; Polydactyly with neonatal chondrodystrophy, type i;
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. There is phenotypic overlap in various forms of SRPS (summary
by Elcioglu and Hall, 2002). - Genetic Heterogeneity of Short Rib-Polydactyly Syndrome
Five types have been distinguished: SRPS I (Saldino-Noonan type); SRPS II (Majewski
type; see 263520), SRPS III (Verma-Naumoff type; 263510),;
Inheritance : Autosomal recessive;
Prefixed ID : 263530;
Origin ID : 263530;
UMLS CUI : C0036069;
Currated CISMeF NLP mapping
HPO term(s)
Semantic type(s)
UMLS correspondences (same concept)
Validated automatic mappings to NTBT