Overview
Bosley-Salih-Alorainy syndrome (BSAS) is a rare genetic condition that affects the development of the brain, eyes, and major blood vessels. It is sometimes referred to by the gene responsible for causing it, HOXA1 syndrome, since changes (mutations) in the HOXA1 gene are the underlying cause. The condition is present from birth and affects several parts of the body at once. The most noticeable features involve the eyes and the nerves that control eye movement. Many people with BSAS are unable to move their eyes normally, and some have hearing loss from birth. The brain's blood vessels may also be formed differently than usual, which can increase the risk of stroke. Some individuals have differences in the structure of the inner ear and the brainstem — the part of the brain that controls basic body functions like breathing and heart rate. There is currently no cure for BSAS. Treatment focuses on managing individual symptoms, such as using hearing aids for hearing loss, working with eye specialists for vision problems, and monitoring the brain's blood vessels with imaging. Early intervention with therapies like speech, occupational, and physical therapy can make a meaningful difference in daily life. Because this condition is so rare, care is usually coordinated by a team of specialists.
Key symptoms:
Inability to move the eyes side to side (horizontal gaze palsy)Hearing loss present from birth (sensorineural hearing loss)Abnormal development of the inner ear (semicircular canal aplasia)Differences in the structure of the brainstemAbnormal formation of the large arteries supplying the brain (carotid artery abnormalities)Increased risk of stroke due to blood vessel differencesFacial nerve weakness in some individualsIntellectual disability in some casesDelayed speech and language developmentBalance and coordination difficulties
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for Bosley-Salih-Alorainy syndrome.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for Bosley-Salih-Alorainy syndrome at this time.
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Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to Bosley-Salih-Alorainy syndrome.
Community
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Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
Rare disease caregiving can be isolating. Connect with counseling and peer support.
Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.What imaging tests does my child need to check their brain blood vessels, and how often should these be repeated?,Is my child a candidate for a cochlear implant or hearing aid, and who should we see for this?,What is my child's risk of having a stroke, and what can we do to reduce that risk?,Should other family members be tested for the HOXA1 gene change?,What early intervention therapies would you recommend, and how do we access them?,Are there any clinical trials or research studies we should know about?,What signs should prompt us to go to the emergency room immediately?
Common questions about Bosley-Salih-Alorainy syndrome
What is Bosley-Salih-Alorainy syndrome?
Bosley-Salih-Alorainy syndrome (BSAS) is a rare genetic condition that affects the development of the brain, eyes, and major blood vessels. It is sometimes referred to by the gene responsible for causing it, HOXA1 syndrome, since changes (mutations) in the HOXA1 gene are the underlying cause. The condition is present from birth and affects several parts of the body at once. The most noticeable features involve the eyes and the nerves that control eye movement. Many people with BSAS are unable to move their eyes normally, and some have hearing loss from birth. The brain's blood vessels may als
How is Bosley-Salih-Alorainy syndrome inherited?
Bosley-Salih-Alorainy syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Bosley-Salih-Alorainy syndrome typically begin?
Typical onset of Bosley-Salih-Alorainy syndrome is neonatal. Age of onset can vary across affected individuals.
Which specialists treat Bosley-Salih-Alorainy syndrome?
1 specialists and care centers treating Bosley-Salih-Alorainy syndrome are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.