Björnstad Syndrome

Björnstad Syndrome


Bjornstad syndrome is an autosomal recessive disorder characterized by sensorineural hearing loss and twisted hairs (pili torti).


The hearing loss usually becomes evident very early in life, often in the first year. Pili torti, a condition in which the hair shaft is flattened and twisted, makes the hair very brittle and patients develop hair loss in the first two years of life.


Mutations in the BCS1L gene are belived to be responsible for Björnstad syndrome.



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Last Updated on 17 May 2021