Urban–Rogers–Meyer syndrome
Appearance
(Redirected from Mental retardation short stature hand contractures genital anomalies)
Urban–Rogers–Meyer syndrome | |
---|---|
Other names | Prader–Willi habitus, osteopenia, and camptodactyly |
This condition is inherited in an autosomal recessive manner | |
Specialty | Medical genetics |
Urban–Rogers–Meyer syndrome, also known as Prader–Willi 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]
References
[edit]- ^ Online Mendelian Inheritance in Man (OMIM): 264010
- ^ 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.
- ^ a b 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.
- ^ "Urban Rogers Meyer syndrome". Orphanet. Retrieved Aug 29, 2010.
- ^ "Urban-Rogers-Meyer syndrome". Jablonski's Syndromes Database (closed). NLM. Retrieved Aug 29, 2010.
Further reading
[edit]- Prader–Willi habitus, osteopenia, and camptodactyly; Urban–Rogers–Meyer syndrome at NIH's Office of Rare Diseases
- Jablonski's Syndromes Database: Bibliography
- Camera G, Marugo M, Cohen MM (Nov 1993). "Another postnatal-onset obesity syndrome". Am. J. Med. Genet. 47 (6): 820–822. doi:10.1002/ajmg.1320470605. PMID 8279478.
External links
[edit]