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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

  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • 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.