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Urban-Rogers-Meyer syndrome

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
  • Q87.8
MeSH -
MedDRA -


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.

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