Living with Cooper-Jabs syndrome
A rare genetic syndrome with missing ear canals and hearing loss, intellectual disability, and heart and skeletal differences.
Understanding Cooper-Jabs syndrome
People have a missing outer ear canal (atresia), which causes moderate hearing loss. They also have intellectual disability, a hole in the heart wall, and a belly button hernia. There can be skeletal differences, such as mild clubfoot and long fifth fingers, and facial features such as a prominent forehead and flat back of the head. It starts at birth.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Missing ear canal (atresia)
- Hearing loss (conductive)
- Intellectual disability
- Hole between the lower heart chambers
- Low muscle tone (hypotonia)
- Crossed eyes (strabismus)
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 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
- Brain and nervous system specialists (neurologists); 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 cause this condition. It is autosomal recessive, meaning a child inherits a changed copy of the gene from each parent. GARD doesn't name a gene.
Also known as: aural atresia-multiple congenital anomalies-intellectual disability syndrome; aural atresia, multiple congenital anomalies, and impaired intellectual development
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 Cooper-Jabs syndrome.
Explore research for Cooper-Jabs syndrome
Explore actively recruiting Cooper-Jabs syndrome studies with HealthSpark.
Find actively recruiting studies for Cooper-Jabs 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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