Autoszomális recesszív
Caused by changes in both copies of the BCS1L gene, which helps assemble complex III of the mitochondrial respiratory chain. Other, more severe BCS1L changes cause mitochondrial disorders such as GRACILE syndrome.
Tünetek és jelek
Brittle, flattened and twisted hair shafts (pili torti), noticed in early childhood, and sensorineural hearing loss that becomes evident in early childhood and varies in severity. The hair can become less fragile with age.
Mit változtat a diagnózis
Hearing assessment and hearing aids or other support as needed, plus gentle hair care. Parents of an affected child are usually both carriers, so genetic counselling and carrier testing can be offered to relatives.
Vizsgált gének
Más néven
BJS; deafness and pili torti, Bjornstad type; deafness-pili torti-hypogonadism syndrome; pili torti-sensorineural hearing loss; PTD; PTND
