Clouston syndrome

Clouston syndrome is a form of ectodermal dysplasia, a group of about 150 conditions characterized by abnormal development of some or all of the ectodermal structures, which include the skin, hair, nails, teeth, and sweat glands. Specifically, Clouston syndrome is ...1

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Symptoms of Clouston syndrome

Symptoms: The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. Signs and Symptoms

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Types of Clouston syndrome

Some types of this condition may include:2 Types of Clouston syndrome:

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Genetics of Clouston syndrome

Genetic Changes: Clouston syndrome is caused by mutations in the GJB6 gene. This gene provides instructions for making a protein called gap junction beta 6, more commonly known as connexin 30. Connexin 30 is a member of the connexin protein ...3

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Names and Terminology

Other Names for This Condition

Source: GHR (NLM ...4

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References

  1. Source: GHR (NLM/NIH): ghr.nlm.nih.gov/ condition/ clouston-syndrome
  2. Source: NCI Thesaurus
  3. Source: GHR (NLM/NIH): ghr.nlm.nih.gov/ condition/ clouston-syndrome
  4. ibid.

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Note: This site is for informational purposes only and is not medical advice. See your doctor or other qualified medical professional for all your medical needs.