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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Escher Hirt syndrome


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Overview

Escher-Hirt syndrome is characterized by small ears with thickened ear lobes, a small jaw, and conductive hearing loss due to ear abnormalities. It has only been described in a few families. Escher-Hirt syndrome is inherited in an autosomal dominant pattern.[1]
Last updated: 3/31/2009

References

  1. Earlobes, thickened - conductive deafness. Orphanet. May 2007; http://www.orpha.net/consor4.01/www/cgi-bin/OC_Exp.php?lng=EN&Expert=2405. Accessed 3/31/2009.
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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 Escher Hirt syndrome. Click on the link to view a sample search on this topic.
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.