Björnstad syndrome

Björnstad syndrome is a rare genetic disorder characterized by hearing loss and pectinate hair. It was first described by the Norwegian physician P. Björnstad in 1965. The syndrome is caused by mutations in the BCS1L gene.

Symptoms and Signs

The primary symptoms of Björnstad 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.

Other symptoms may include:

• Growth retardation
• Intellectual disability
• Renal tubulopathy
• Hypogonadism

Causes

Björnstad syndrome is caused by mutations in the BCS1L gene. This gene provides instructions for making a protein that is found in mitochondria, the energy-producing centers of cells. The BCS1L protein is involved in the final stages of assembly of an enzyme complex called complex III, which is necessary for mitochondria to produce energy.

Diagnosis

Diagnosis of Björnstad syndrome is based on the clinical symptoms, especially the characteristic hair abnormalities and hearing loss. Genetic testing can confirm the diagnosis.

Treatment

There is currently no cure for Björnstad syndrome. Treatment is symptomatic and supportive, and may include hearing aids for the hearing loss.

See also

• List of genetic disorders
• List of rare diseases

References

Björnstad syndrome Resources
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