Escher Hirt syndrome
Other Names for this Disease
- Escher-Hirt syndrome
- Thickened earlobes - conductive deafness
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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.Escher-Hirt syndrome is characterized by small ears with thickened ear lobes, a small jaw, and conductive
Last updated: 3/31/2009
- 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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- 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.