Urban–Rogers–Meyer syndrome | |
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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, is an extremely rare inherited congenital disorder first described by Urban et al. (1979). It is characterized by genital anomalies, mental retardation, obesity, contractures of fingers, and osteoporosis, though further complications are known.
References
- 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.
- ^ 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
- 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
Classification | D |
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Congenital abnormality syndromes | |
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Craniofacial | |
Short stature | |
Limbs | |
Overgrowth syndromes | |
Laurence–Moon–Bardet–Biedl | |
Combined/other, known locus |
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