Bosley-Salih-Alorainy syndrome

Bosley-Salih-Alorainy syndrome (BSAS) is a rare condition that affects multiple parts of the body. It is known for causing problems with eye movement, particularly making it hard for people to look side-to-side. In addition, people with this syndrome often have severe hearing loss due to maldevelopment of the inner ear. Other important features of this condition include issues with the blood vessels in the brain, which can vary from reduced size of one internal carotid artery to the complete absence of both, as well as heart malformations. Some people may also show developmental delays and signs of autism. This syndrome is caused by changes in a specific gene called HOXA1, and it is inherited when both parents pass on a copy of the mutated gene. While it overlaps in some ways with a condition called Athabaskan brain dysfunction syndrome, BSAS does not include problems with central hypoventilation. This summary provides a basic overview of a complex condition, and further details may vary by individual.

Common signs and symptoms in people with Bosley-Salih-Alorainy syndrome include difficulty with horizontal eye movements, severe sensorineural hearing loss, and inner ear maldevelopment. In addition, there can be issues with the brain’s blood vessels, such as an underdeveloped or absent internal carotid artery, as well as congenital heart malformations. Many individuals also experience developmental delays and sometimes exhibit features of autism.

Bosley-Salih-Alorainy syndrome is caused by homozygous mutations in the HOXA1 gene, located on chromosome 7p15.2. The condition is inherited in an autosomal recessive manner, meaning that a person needs to inherit two mutated copies of the HOXA1 gene to show signs of the condition.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about research is currently limited for this condition.