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Urban-Rogers-Meyer syndrome

Disease definition

This syndrome is characterized by 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. The patients also present with generalized osteoporosis and a history of frequent fractures. 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.

ORPHA:3409

  • Synonym(s):
    • Intellectual disability-short stature-hand contractures-genital anomalies syndrome
    • Prader-Willi habitus-osteopenia-camptodactyly syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: -
  • Age of onset: Infancy
  • ICD-10: Q87.8
  • OMIM: 264010
  • UMLS: C0796189
  • MeSH: -
  • GARD: 5426
  • MedDRA: -

Additional information

Further information on this disease

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