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Hypohidrotic ectodermal dysplasia

Disease definition

Hypohidrotic ectodermal dysplasia (HED) is a genetic disorder of ectoderm development characterized by malformation of ectodermal structures such as skin, hair, teeth and sweat glands. It comprises three clinically almost indistinguishable subtypes with impaired sweating as the key symptom: Christ-Siemens-Touraine (CST) syndrome (X-linked), autosomal recessive (AR), and autosomal dominant (AD) HED, as well as a fourth rare subtype with immunodeficiency as the key symptom (HED with immunodeficiency) (see these terms).

ORPHA:238468

  • Synonym(s):
    • Anhidrotic ectodermal dysplasia
    • HED
  • Prevalence: 1-9 / 100 000
  • Inheritance: Autosomal dominant or Autosomal recessive or X-linked recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q82.4
  • OMIM: 129490  224900  300291  305100  612132  614940  614941
  • UMLS: C0162359  C0406702  C1706004
  • MeSH: -
  • GARD: -
  • MedDRA: -

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