Orphanet: Pure hair and nail ectodermal dysplasia
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Pure hair and nail ectodermal dysplasia

Disease definition

Pure hair and nail ectodermal dysplasia is characterised by the association of onychodystrophy and severe hypotrichosis, which is mainly limited to the scalp but may also affect the eyelashes and eyebrows. Less than 20 cases have been reported so far. The mode of transmission is autosomal dominant.

ORPHA:69084

Classification level: Disorder
  • Synonym(s):
    • HNED
    • Hair-nail ectodermal dysplasia
    • PHNED
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant or Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q82.8
  • OMIM: 602032  614927  614928  614929  614931
  • UMLS: C1865951
  • MeSH: -
  • GARD: -
  • MedDRA: -

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The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.