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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

  • 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: -
  • OMIM: 602032  614927  614928  614929  614931
  • UMLS: C1865951
  • MeSH: -
  • GARD: -
  • MedDRA: -

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