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Pili torti-onychodysplasia syndrome

Disease definition

Pili torti-onychodysplasia is a form of ectodermal dysplasia characterised by dystrophy of the distal part of the nails and trichodysplasia. It has been described in only one family. Transmission is autosomal recessive.

ORPHA:2890

  • Synonym(s): -
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: -
  • OMIM: -
  • UMLS: C2931483
  • MeSH: C537399
  • GARD: 4364
  • MedDRA: -
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