Björnstad Syndrome

Björnstad syndrome is characterized by congenital sensorineural hearing loss and pili torti.

Epidemiology

Less than fifty cases have been reported so far.

Clinical description

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.

Etiology

Björnstad syndrome is caused by mutations in the BCS1L gene. Mutations in this gene also cause GRACILE syndrome (see this term).

Genetic counseling

Björnstad syndrome is transmitted as an autosomal recessive condition.