Bjornstad Syndrome

Overview

Type of disease: Rare conditions

Bjornstad syndrome is a very rare condition characterized by abnormal hair and hearing problems. People with this condition suffer from pili torti, or “twisted hair.” This causes the hair on their head to be brittle and break easily. Symptoms may include: dry, fragile, or course hair, or patches of hair loss (alopecia). Both hearing problems, which can range from mild to severe, and abnormal hair present before the age of two. Bjornstad syndrome is autosomal recessive, meaning an individual must have two copies of the changed gene that causes the condition. A person with one changed gene would be a carrier of the condition but will not have any symptoms. If both parents are carriers, their children have a one in four chance of having the disease. Fewer than 50 cases have been reported, so treatment varies on a case-by-case basis.

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