Roar Theodor<unk>  first noticed a correlation between pilli torti and hearing loss in 1965, and subsequently diagnosed eight patients with<unk> . Out of these eight patients with pili torti, five experienced sensorineural deafness.<unk>  presented his diagnosis and observations at a medical conference in Copenhagen.<unk>  is diagnosed by observation of twisted hair, known as pili torti, which can be observed as early as birth. 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. Finally, a diagnosis of<unk>  can be confirmed by genetic testing for mutations in the BCS1L gene.
Björnstad syndrome
Swyer–James syndrome
Njølstad syndrome
Mohr–Tranebjærg syndrome
Bogart–Bacall syndrome
Sensenbrenner syndrome
SUNCT syndrome
Hoyeraal–Hreidarsson syndrome