Orphanet: Amelo onycho hypohidrotic syndrome
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Amelo-onycho-hypohidrotic syndrome

Disease definition

A rare ectodermal dysplasia syndrome characterized by the association of hypocalcified and hypoplastic tooth enamel, distal finger and toenail onycholysis with subungueal hyperkeratosis, and functional hypohidrosis. Additional manifestations include seborrheic scalp dermatitis and rough, dry skin. Lacrymal punctae may be occasionally absent. There have been no further descriptions in the literature since 1975.

ORPHA:1028

Classification level: Disorder
  • Synonym(s):
    • Ameloonychohypohidrotic ectodermal dysplasia
    • Ameloonychohypohidrotic syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: -
  • Age of onset: No data available
  • ICD-10: Q82.4
  • OMIM: 104570
  • UMLS: C1863006
  • MeSH: C538245
  • GARD: 647
  • MedDRA: -
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