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Diseases

Genetic and Rare Diseases Information Center (GARD)

Geroderma osteodysplastica


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

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