Living with Human HOXA1 syndromes
Very rare conditions present at birth that mainly affect the ears, eyes, and blood flow in and out of the heart.
Understanding Human HOXA1 syndromes
They mainly affect the development of the ears, eyes, and cardiovascular system. Main symptoms are being unable to move the eyes to the sides, deafness, and heart blood-flow birth differences. Athabaskan brainstem dysgenesis syndrome has been described in Native American populations (primarily Navajo and Apache) and in a few Saudi Arabian and Turkish families. Symptoms may vary by population.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Hearing loss from inner ear changes
- Delayed motor skills
- Breathing control problems (central hypoventilation)
- Small internal carotid artery
- Cannot move eyes to the sides
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 and genetic 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)
- 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, so a child inherits a changed copy of the gene from each parent. Genetic testing can confirm the diagnosis.
Also known as: abds; absd; athabascan brainstem dysgenesis syndrome; athabaskan brainstem dysgenesis syndrome; navajo brainstem syndrome
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 Human HOXA1 syndromes.
Explore research for Human HOXA1 syndromes
Explore actively recruiting Human HOXA1 syndromes studies with HealthSpark.
Find actively recruiting studies for Human HOXA1 syndromes with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- Eligibility is confirmed by the study team
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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