<unk>  is inherited in an autosomal recessive pattern. Microscopic image of pili torti<unk>  is an autosomal recessive congenital condition involving pili torti, sensorineural deafness, and hair abnormalities. It was first characterized in 1965, in Oslo, by prof. Roar Theodor<unk>  after he observed an association between pili torti and hearing loss. The condition is extremely rare, with less than 50 cases documented in medical literature worldwide.<unk>  is caused by mutations of the BCS1L gene. The protein product of this gene is BCS1L, which plays an important role in oxidative phosphorylation. 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<unk> . Pili torti is recognized in early childhood and is characterized by twisted hair shafts and brittle hair. The hearing loss usually becomes evident very early in life as well, often in the first year.
Björnstad syndrome
Swyer–James syndrome
Njølstad syndrome
Mohr–Tranebjærg syndrome
Bogart–Bacall syndrome
Sensenbrenner syndrome
SUNCT syndrome
Hoyeraal–Hreidarsson syndrome