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Pili torti-onychodysplasia syndrome

Disease definition

A rare ectodermal dysplasia syndrome characterized by congenital onychodystrophy (particularly of the distal nail) and severe hypotrichosis with alopecia involving the eyebrows, eyelashes and body hair. Scalp, beard, pubic and axillary hair is brittle and shows a twisting pattern on electron microscopy. There have been no further descriptions in the literature since 1991.

ORPHA:2890

Classification level: Disorder
  • Synonym(s): -
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q82.4
  • ICD-11: LD27.0Y
  • OMIM: -
  • UMLS: C4509919
  • MeSH: C537399
  • GARD: 4364
  • MedDRA: -

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

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Further information on this disease

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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.