Living with Bosley-Salih-Alorainy syndrome
A rare genetic syndrome with eye movement trouble, deafness, and blood vessel and heart differences.
Understanding Bosley-Salih-Alorainy syndrome
It is noted in newborns and infants. Deafness in both ears is profound and often comes with inner ear differences. Other features include developmental delay and sometimes autism. It overlaps with Athabaskan brain dysfunction syndrome, but BSAS does not cause central hypoventilation (slow breathing controlled by the brain).
Signs & symptoms
GARD describes these features:
- Trouble moving the eyes sideways (horizontal gaze)
- Profound hearing loss in both ears
- Inner ear differences
- Blood vessel differences in the brain (carotid artery)
- Heart differences
- Developmental delay
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include brain and nervous system specialists, ear, nose, and throat specialists, genetic specialists and heart and blood vessel specialists.
- 3Consider genetic testing
Changes in HOXA1 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Ear, nose, and throat specialists (otolaryngologists); Genetic specialists (geneticists); Heart and blood vessel specialists (cardiologists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with rare disease patient organizations for support
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
Changes in the HOXA1 gene cause this condition. It is autosomal recessive, which means a child inherits a changed copy of the gene from each parent.
Also known as: bosley salih alorainy syndrome; bsas
Patient organizations
Rare-disease groups that can help
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Bosley-Salih-Alorainy syndrome.
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