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Hypohidrotic ectodermal dysplasia with hypothyroidism and ciliary dyskinesia
Other Names for this Disease
- ANOTHER syndrome
- Ectodermal dysplasia hypohidrotic with hypothyroidism and ciliary dyskinesia
- HEDH syndrome
- Hypohidrotic ectodermal dysplasia - hypothyroidism - ciliary dyskinesia
- Hypohidrotic ectodermal dysplasia with hypothyroidism
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Overview
Hypohidrotic ectodermal dysplasia with hypothyroidism and ciliary dyskinesia is a rare condition characterized by 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.[1] 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.[1] Treatment is generally symptomatic and supportive.
References
- Hypohidrotic ectodermal dysplasia - hypothyroidism - ciliary dyskinesia. Orphanet. http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1882. Accessed March 28, 2012.
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General Information
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge. Click on the link to read information on this topic.
- 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.
- 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 The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Hypohidrotic ectodermal dysplasia with hypothyroidism and ciliary dyskinesia. Click on the link to go to OMIM and review these resources.