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short rib-polydactyly syndrome, Verma-Naumoff type

Disease Summary
Associated Targets (6)
Tbio

6


GARD Rare
Mondo Description Short rib-polydactyly syndrome, Verma-Naumoff type is a short rib-polydactyly syndrome, characterized by short limb dwarfism, short ribs with thoracic dysplasia, postaxial polydactyly and protuberant abdomen. Associated multiple malformations include cardiovascular defects, renal agenesis /hypoplasia, anormal clocal development (ambiguous genitalia, anal atresia) and cerebellar hypoplasia. Short rib-polydactyly syndrome, Verma-Naumoff type follows an autosomal recessive mode of transmission. The disease is usually fatal in the perinatal period.
Mondo Term and Equivalent IDs
MONDO:0019664:  short rib-polydactyly syndrome, Verma-Naumoff type
GARD:0004835: 
MESH:C537602: 
Orphanet:93271: 
SCTID:254051008: 
UMLS:C0432197: