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Urban-Rogers-Meyer syndrome

MedGen UID:
Concept ID:
Disease or Syndrome
Synonym: Prader-Willi habitus, osteopenia, and camptodactyly
SNOMED CT: Intellectual disability and short stature with hand contracture and genital anomaly syndrome (716334004); Urban Rogers Meyer syndrome (716334004); Prader Willi habitus with osteopenia and camptodactyly (716334004)
Monarch Initiative: MONDO:0009905
OMIM®: 264010
Orphanet: ORPHA3409


This syndrome has characteristics of intellectual deficit, short stature, obesity, genital abnormalities, and hand and/or toe contractures. It has been described in two brothers and in one isolated case. This syndrome is similar to Prader-Willi syndrome, but the hand contractures and osteoporosis, together with the lack of hypotonia, indicate this is a different entity. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVUrban-Rogers-Meyer syndrome
Follow this link to review classifications for Urban-Rogers-Meyer syndrome in Orphanet.

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