Björnstad syndrome

Björnstad syndrome is an autosomal recessive congenital condition that combines pili torti, sensorineural deafness and hair abnormalities. It was first characterized in 1965 in Oslo by Professor Roar Theodor Bjørnstad, who observed an association between twisted hair shafts and hearing loss. It is extremely rare, with fewer than fifty cases documented in the medical literature worldwide. The cause is mutation of the BCS1L gene, whose protein plays a role in oxidative phosphorylation. Mutated BCS1L increases production of reactive oxygen species, which may be the molecular cause of the hair and hearing findings. Pili torti, meaning twisted and brittle hair, is recognized in early childhood, and hearing loss usually appears within the first year. This is a record of what the source states, not medical advice.