Orphanet: Hypohidrotic ectodermal dysplasia hypothyroidism ciliary dyskinesia syndrome
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Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome

Disease definition

A rare, genetic, ectodermal dysplasia syndrome characterized by the association of hypohidrotic ectodermal dysplasia (manifesting with the triad of hypohidrosis, anodontia/hypodontia and hypotrichosis) with primary hypothyroidism and respiratory tract ciliary dyskinesia. Patients frequently present urticaria pigmentosa-like skin pigmentation, increased mast cells and melanin depositions in the dermis and severe, recurrent chest infections. There have been no further descriptions in the literature since 1986.

ORPHA:1882

Classification level: Disorder
  • Synonym(s):
    • ANOTHER syndrome
    • HEDH syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Childhood
  • ICD-10: Q82.4
  • OMIM: 225050
  • UMLS: C1857052
  • MeSH: -
  • GARD: 2049
  • MedDRA: -

  A summary on this disease is available in Español (2019) Français (2019) Italiano (2019) Nederlands (2019)

Detailed information

Guidelines

Genetic Testing

ERN : produced/endorsed by ERN(s)
FSMR : produced/endorsed by FSMR(s)

Additional information

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

Specialised Social Services

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