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Genetic and Rare Diseases Information Center (GARD)

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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.
Last updated: 3/28/2012

References

  1. 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.
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Basic Information

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 Hypohidrotic ectodermal dysplasia with hypothyroidism and ciliary dyskinesia. Click on the link to view a sample search on this topic.
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
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.