Urban-Rogers-Meyer syndrome

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Urban-Rogers-Meyer syndrome

Synonyms: Intellectual disability-short stature-hand contractures-genital anomalies syndrome | Prader-Willi habitus-osteopenia-camptodactyly syndrome

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.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version December 2023

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Urban-Rogers-Meyer syndrome?

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