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Urban-Rogers-Meyer syndrome

ORPHA3409
Synonym(s) Intellectual disability - short stature - hand contractures - genital anomalies
Prader-Willi habitus - osteopenia - camptodactyly
Prevalence -
Inheritance -
Age of onset -
ICD-10
  • Q87.8
OMIM
UMLS -
MeSH -
MedDRA -

Summary

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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