Urban-Rogers-Meyer syndrome

From BugSigDB


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.
Aliases
  • Intellectual disability - short stature - hand contractures - genital anomalies
  • intellectual disability-short stature-hand contractures-genital anomalies syndrome
  • Prader-Willi habitus - osteopenia - camptodactyly
  • Prader-Willi habitus, osteopenia, and camptodactyly
  • Prader-Willi habitus-osteopenia-camptodactyly syndrome
  • urban-Rogers-Meyer syndrome
  • urban-Rogers-Meyer syndrome