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Diseases

Genetic and Rare Diseases Information Center (GARD)

Oculodentodigital dysplasia


Other Names for this Disease
  • Oculo-dento-digital dysplasia
  • Oculo-dento-digital syndrome
  • Oculodentodigital syndrome
  • ODDD
  • ODD 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.

Overview

Oculodentodigital dysplasia is a condition that affects many parts of the body, particularly the eyes (oculo-), teeth (dento-), and fingers (digital). The condition is caused by mutations in the GJA1 gene. Most cases are inherited in an autosomal dominant pattern.[1] Some cases are caused by a new mutation in the gene.[2] A small number of cases follow an autosomal recessive pattern of inheritance.[1] Management is multidisciplinary and based on specific symptoms. Early diagnosis is critical for prevention and treatment.[3]
Last updated: 1/26/2011

References

  1. Oculodentodigital dysplasia. Genetics Home Reference (GHR). 2009; http://ghr.nlm.nih.gov/condition/oculodentodigital-dysplasia. Accessed 1/26/2011.
  2. Oculo-Dento-Digital Dysplasia. National Organization for Rare Disorders (NORD). 2005; http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Oculo-Dento-Digital%20Dysplasia. Accessed 1/26/2011.
  3. Oculodentodigital dysplasia. Orphanet. 2010; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=2710. Accessed 1/26/2011.
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Basic Information

  • Genetics Home Reference (GHR) contains information on Oculodentodigital dysplasia. This website is maintained by the National Library of Medicine.
  • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

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 Oculodentodigital dysplasia. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Oculo-dento-digital dysplasia
  • Oculo-dento-digital syndrome
  • Oculodentodigital syndrome
  • ODDD
  • ODD 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.