Living with Acrootoocular syndrome
A very rare condition with swelling at the optic disc, hearing loss, facial differences, and hand and foot differences.
Understanding Acrootoocular syndrome
It includes pseudopapilledema, swelling of the optic disc that is not due to pressure in the head. It also has mixed hearing loss, distinct facial features, and differences in the hands and feet. GARD lists onset as the newborn and infant period.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Hearing loss (conductive)
- Small head size (microcephaly)
- Missing ear canal
- Webbed fingers or toes
- Not gaining weight as expected
- Delayed bone maturation
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 eye disease specialists and genetic specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- Eye disease specialists (ophthalmologists); 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
GARD says changes in genes (also called variants) cause this condition. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: acro-oto-ocular syndrome; aoo syndrome; pseudopapilledema-blepharophimosis-hand anomalies syndrome; pseudopapilledema, blepharophimosis and hand anomaly syndrome; pseudopapilledema, ocular hypotelorism, blepharophimosis, and hand anomalies; pseudopapilloedema, blepharophimosis and hand anomaly 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 Acrootoocular syndrome.
Explore research for Acrootoocular syndrome
Explore actively recruiting Acrootoocular syndrome studies with HealthSpark.
Find actively recruiting studies for Acrootoocular syndrome 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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