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ORPHA:2889· ICD-10 Q84.1· Pili torti

Визначення(English 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).

Поширеність
Unknown
Успадкування
Autosomal recessive
Вік початку
Infancy, Neonatal