Björnstad syndrome

Björnstad syndrome is an autosomal recessive congenital condition involving pili torti, sensorineural deafness, and hair abnormalities.

[2] It was first characterized in 1965, in Oslo, by prof. Roar Theodor Bjørnstad after he observed an association between pili torti and hearing loss.

[5] Mutated BCS1L increases production of reactive oxygen species, which may be the molecular cause of pili torti and hearing loss, both of which are associated with Björnstad syndrome.

In Björnstad syndrome patients, the hair usually appears dry, fragile, coarse, and is easily broken.

[5] The symptoms of Björnstad syndrome may be attributed to a particular sensitivity of inner ear and hair tissues to reactive oxygen species, but more research is needed.

To confirm presence of pili torti, the hair shafts of an individual are examined under an electron microscope.

Any infants with confirmed pili torti should undergo a series of auditory tests to evaluate potential sensorineural deafness.

[2] Given its autosomal recessive inheritance pattern, Björnstad syndrome should theoretically affect males and females in equal numbers.