Introduction
Bjornstad syndrome is an autosomal recessive disorder characterized by sensorineural hearing loss and twisted hairs (pili torti).
Symptoms
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.
Causes
Mutations in the BCS1L gene are belived to be responsible for Björnstad syndrome.
Prevalence
Unknown