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Diseases

Genetic and Rare Diseases Information Center (GARD)

Oculodentodigital dysplasia


Other Names for this Disease
  • Meyer-Schwickerath syndrome
  • Oculo-dento-digital dysplasia
  • Oculo-dento-digital syndrome
  • Oculodentodigital syndrome
  • Oculodentoosseous dysplasia
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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) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.

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 Oculodentodigital dysplasia. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Meyer-Schwickerath syndrome
  • Oculo-dento-digital dysplasia
  • Oculo-dento-digital syndrome
  • Oculodentodigital syndrome
  • Oculodentoosseous dysplasia
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.