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Diseases

Genetic and Rare Diseases Information Center (GARD)

Prader-Willi habitus, osteopenia, and camptodactyly


Other Names for this Disease
  • Urban-Rogers-Meyer syndrome
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Overview

Prader-Willi habitus, osteopenia, and camptodactyly syndrome is characterized by intellectual disability, short stature, obesity, genital abnormalities, and hand and/or toe contractures. It has only been described in two brothers and in one isolated case in a different family. Other symptoms included unusual face, deformity of the spinal column, osteoporosis and a history of frequent fractures. It is similar to Prader-Willi syndrome, but the authors concluded that it is a different condition.[1][2] The cause was unknown in the reported cases.
Last updated: 4/12/2016

References

  1. Familial syndrome of mental retardation, short stature, contractures of the hands, and genital anomalies. J Pediatr.. January, 1979; 94(1):52-5. http://www.ncbi.nlm.nih.gov/pubmed/758422.
  2. Pagnan N & Gollop TR. Prader-Willi habitus, osteopenia, and camptodactyly (Urban-Rogers-Meyer syndrome): a probable second report. Am J Med Genet. December, 1988; 31(4):787-92. http://www.ncbi.nlm.nih.gov/pubmed/?term=3239569.
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In Depth Information

  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Prader-Willi habitus, osteopenia, and camptodactyly. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Urban-Rogers-Meyer syndrome
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.