Bjornstad syndrome

Bjornstad syndrome is a rare genetic disorder characterized mainly by congenital sensorineural hearing loss and structural changes in the hair known as pili torti. Children with this condition often show signs of hearing loss in their first year, and the unique hair changes lead to brittle hair and early hair loss in the first two years of life. Less than fifty cases have been reported. This condition is inherited in an autosomal recessive pattern, meaning that affected individuals inherit mutations in both copies of a specific gene. The syndrome has been linked to mutations in the BCS1L gene, which may also be involved in other conditions.

Common symptoms of Bjornstad syndrome include congenital sensorineural hearing loss and pili torti. The hearing loss generally appears very early in life, often within the first year. Pili torti refers to the appearance of the hair shaft where it is flattened and twisted, which can make the hair very fragile and lead to hair loss early in childhood.

Bjornstad syndrome is caused by mutations in the BCS1L gene. It follows an autosomal recessive inheritance pattern, which means that the condition occurs when a child inherits two copies of the mutated gene, one from each parent.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about current research and future directions is currently limited for this condition.