Escher Hirt syndrome
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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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- 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 Escher Hirt syndrome. Click on the link to view a sample search on this topic.