Bjornstad syndrome

Bjornstad Syndrome

Bjornstad Syndrome (pronounced bee-yorn-stad sin-drome) is a rare genetic disorder characterized by the combination of hearing loss and pili torti. The syndrome is named after the Norwegian pediatrician and geneticist, Pål Bjørnstad, who first described the condition in 1965.

Etymology

The term "Bjornstad Syndrome" is derived from the name of the Norwegian pediatrician and geneticist, Pål Bjørnstad, who first described the condition. The word "syndrome" comes from the Greek "σύνδρομον" (syndromon), meaning "concurrence of symptoms, concourse".

Symptoms

The primary symptoms of Bjornstad Syndrome are sensorineural hearing loss and pili torti. Sensorineural hearing loss is a type of hearing loss in which the root cause lies in the inner ear or sensory organ (cochlea and associated structures) or the vestibulocochlear nerve (cranial nerve VIII). Pili torti, also known as "twisted hairs", is a condition characterized by the twisting of hair shafts which often leads to brittle hair that breaks easily.

Causes

Bjornstad Syndrome is caused by mutations in the BCS1L gene. This gene provides instructions for making a protein that is found in cells throughout the body, where it plays a crucial role in normal energy production.

Diagnosis

Diagnosis of Bjornstad Syndrome is typically based on the presence of the characteristic symptoms of sensorineural hearing loss and pili torti. Genetic testing can confirm a diagnosis.

Treatment

There is currently no cure for Bjornstad Syndrome. Treatment is symptomatic and supportive, focusing on managing the individual symptoms in each person.

References

External links

Medical encyclopedia article on Bjornstad syndrome
Wikipedia's article - Bjornstad syndrome

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Bjornstad syndrome