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Pili torti

Orpha number ORPHA2889
Synonym(s) Twisted hair
Prevalence Unknown
Inheritance Autosomal recessive
Age of onset Infancy
Neonatal
ICD-10
  • Q84.1
ICD-O -
OMIM
UMLS
  • C0263491
MeSH -
MedDRA -
SNOMED CT
  • 17170005

Summary

Pili torti is a hair shaft abnormality characterized by flat hair that is twisted at irregular intervals. Hair is normal at birth but progressively stops growing long and becomes fragile. Pili torti can be isolated or occur in association with syndromes such as Menkes disease or Bazex syndrome (see these terms).


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