Living with Ayme-Gripp syndrome
A rare genetic syndrome with early cataracts, hearing loss, distinctive facial features, and developmental delay.
Understanding Ayme-Gripp syndrome
Cataracts show up in both eyes early in life, and hearing loss is often present from birth. Facial features are often described as Down syndrome-like. All affected people have had developmental delay, but the degree of learning difficulty varies a lot. Other features can include short height, seizures, heart-lining swelling in infancy, and skeletal and joint differences.
Signs & symptoms
GARD doesn't list a symptom list. The summary describes these features:
- Cataracts in both eyes, early in life
- Hearing loss from the inner ear
- Distinctive facial features
- Developmental delay
- Short height after birth
- Seizures
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
Your doctor may refer you to a specialist who knows rare conditions.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- A doctor familiar with rare conditions, plus specialists as needed
- 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 doesn't describe a cause for this condition yet.
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 Ayme-Gripp syndrome.
Explore research for Ayme-Gripp syndrome
Explore actively recruiting Ayme-Gripp syndrome studies with HealthSpark.
Find actively recruiting studies for Ayme-Gripp 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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