Hypohidrotic ectodermal dysplasia with hypothyroidism and ciliary dyskinesia
Other Names for this Disease
- HEDH syndrome
- Hypohidrotic ectodermal dysplasia with hypothyroidism
- Ectodermal dysplasia hypohidrotic with hypothyroidism and ciliary dyskinesia
- Hypohidrotic ectodermal dysplasia - hypothyroidism - ciliary dyskinesia
- ANOTHER syndrome
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alopecia (hair loss); nail dystrophy (abnormal development of the nails); ophthalmic (eye-related) complications; thyroid dysfunction (primary hypothyroidism); hypohidrosis; ephelides (freckles); enteropathy (disease of the intestine); and respiratory tract infections due to ciliary dyskinesia. These features have lead to the acronym ANOTHER syndrome as an alternative name for the condition. The gene that causes the condition is currently unknown but it is thought to be inherited in an autosomal recessive manner. Treatment is generally symptomatic and supportive.Hypohidrotic ectodermal dysplasia with hypothyroidism and ciliary dyskinesia is a rare condition characterized by
Last updated: 11/30/2015
- Hypohidrotic ectodermal dysplasia - hypothyroidism - ciliary dyskinesia. Orphanet. October 2006; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1882. Accessed 3/28/2012.
- Socialstyrelsen: The National Board Of Health Welfare in Sweden has an information page on hypohidrotic ectodermal dysplasia. Click on the link above to view this information page.
- 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 Hypohidrotic ectodermal dysplasia with hypothyroidism and ciliary dyskinesia. Click on the link to view a sample search on this topic.