Urban–Rogers–Meyer syndrome

Urban–Rogers–Meyer syndrome, also known as PraderWilli habitus, osteopenia, and camptodactyly or Urban syndrome,[1] is an extremely rare inherited congenital disorder first described by Urban et al. (1979).[2][3] It is characterized by genital anomalies, mental retardation, obesity, contractures of fingers, and osteoporosis,[3] though further complications are known.[4][5]

Urban–Rogers–Meyer syndrome
Other namesPrader–Willi habitus, osteopenia, and camptodactyly
This condition is inherited in an autosomal recessive manner
SpecialtyMedical genetics 

References

  1. Online Mendelian Inheritance in Man (OMIM): 264010
  2. Urban MD, Rogers JG, Meyer WJ (Jan 1979). "Familial syndrome of mental retardation, short stature, contractures of the hands, and genital anomalies". J. Pediatr. 94 (1): 52–55. doi:10.1016/S0022-3476(79)80349-2. PMID 758422.
  3. Pagnan NA, Gollop TR (Dec 1988). "Prader-Willi habitus, osteopenia, and camptodactyly (Urban–Rogers–Meyer syndrome): a probable second report". Am. J. Med. Genet. 31 (4): 787–792. doi:10.1002/ajmg.1320310410. PMID 3239569.
  4. "Urban Rogers Meyer syndrome". Orphanet. Retrieved Aug 29, 2010.
  5. "Urban-Rogers-Meyer syndrome". Jablonski's Syndromes Database (closed). NLM. Retrieved Aug 29, 2010.

Further reading

Classification


This article is issued from Wikipedia. The text is licensed under Creative Commons - Attribution - Sharealike. Additional terms may apply for the media files.