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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Geroderma osteodysplastica


Other Names for this Disease

  • Geroderma osteodysplasticum
  • Gerodermia osteodysplastica
  • GO
  • Walt Disney dwarfism
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Overview

Geroderma osteodysplastica is an autosomal recessive disorder characterized by lax, wrinkled skin, loose joints and a typical face with a prematurely aged appearance. Skeletal signs include severe osteoporosis leading to frequent fractures, malar and mandibular hypoplasia (underdeveloped cheekbones and jaw) and a variable degree of growth deficiency. This condition is caused by mutations in the GORAB gene.[1]
Last updated: 7/15/2014

References

  1. GORAB. Genetics Home Reference (GHR). July 14, 2014; http://ghr.nlm.nih.gov/gene/GORAB. Accessed 7/15/2014.
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In Depth Information

  • The 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 Geroderma osteodysplastica. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Geroderma osteodysplasticum
  • Gerodermia osteodysplastica
  • GO
  • Walt Disney dwarfism
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.