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Definition

An autosomal recessive disease characterized by congenital sensorineural hearing loss and twisted hairs (pili torti). Pili torti is a condition in which the hair shafts are flattened at irregular intervals and twisted 180 degrees from the normal axis, making the hair extremely brittle.

Acronym

BJS

Synonyms

Bjornstad syndrome
Pili torti and nerve deafness
PTD

Keywords

Deafness

 
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