OMIM 262000 | DiseasesDB 33516 | |
Björnstad syndrome is an autosomal recessive congenital condition involving pili torti and nerve deafness and hair abnormalities.
It was first characterized in 1965, in Oslo, by prof. Roar Theodor Bjørnstad (1908–2002).
It has been mapped to BCS1L. Hearing dissabilities related to Björnstad syndrome are congenital, and the severity of the deafness varies from person to person. Pili torti is recognized in early childhood and is characterised by twisted hair shafts and brittle hair.
References
Björnstad syndrome Wikipedia(Text) CC BY-SA