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Urban-Rogers-Meyer syndrome

Disease definition

A rare syndromic intellectual disability characterized by intellectual deficit, short stature, obesity, genital abnormalities, and hand and/or toe contractures. 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

Classification level: Disorder
  • 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: C538276
  • GARD: 5426
  • MedDRA: -

  A summary on this disease is available in Deutsch (2007) Español (2007) Français (2007) Italiano (2007) Nederlands (2007)

Detailed information

Disease review articles

ERN produced/endorsed by ERN(s)   FSMR produced/endorsed by FSMR(s)

Additional information

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

Specialised Social Services

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.