Overview
Aymé-Gripp syndrome is a rare genetic condition that affects many parts of the body, including the brain, eyes, ears, and overall development. It is also sometimes called MAF-related syndrome, because it is caused by changes (mutations) in a gene called MAF. The condition was first described in medical literature and is listed as 'obsolete' in some databases because it has been reclassified or merged with a broader understanding of MAF-related disorders. However, the features of the condition remain well recognized by specialists. People with Aymé-Gripp syndrome typically have intellectual disability, meaning they may learn more slowly than their peers and need extra support in school and daily life. Many also have cataracts (clouding of the lens in the eye) from a very young age, hearing loss, and distinctive facial features. Seizures can also occur in some individuals. Growth may be slower than expected, and some people have heart or skeletal differences. There is currently no cure for Aymé-Gripp syndrome. Treatment focuses on managing each symptom as it appears. This may include surgery for cataracts, hearing aids, seizure medications, and educational support programs. A team of different specialists usually works together to provide the best care possible.
Key symptoms:
Intellectual disability or learning difficultiesCataracts (cloudy lenses in the eyes) present from birth or early childhoodHearing lossDistinctive facial features (such as a broad forehead or widely spaced eyes)SeizuresSlow growth or short statureHeart defects in some individualsSkeletal differences such as joint problemsFeeding difficulties in infancyDelayed speech and language development
Autosomal dominant
Passed on from just one parent; each child has about a 50% chance of inheriting it
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for OBSOLETE: AymÚ-Gripp syndrome.
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Specialists
View all specialists →No specialists are currently listed for OBSOLETE: AymÚ-Gripp syndrome.
Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to OBSOLETE: AymÚ-Gripp syndrome.
Community
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Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
Rare disease caregiving can be isolating. Connect with counseling and peer support.
Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.What genetic testing do you recommend to confirm the diagnosis, and how long will results take?,Which specialists should be part of my child's care team, and how often should we see each one?,What are the early signs that my child's seizures or vision may be getting worse?,Are there any clinical trials or research studies we could participate in?,What educational and therapy services should we start as soon as possible?,What should we do in a seizure emergency, and when should we call 911?,Are other family members at risk, and should they be tested?
Common questions about OBSOLETE: AymÚ-Gripp syndrome
What is OBSOLETE: AymÚ-Gripp syndrome?
Aymé-Gripp syndrome is a rare genetic condition that affects many parts of the body, including the brain, eyes, ears, and overall development. It is also sometimes called MAF-related syndrome, because it is caused by changes (mutations) in a gene called MAF. The condition was first described in medical literature and is listed as 'obsolete' in some databases because it has been reclassified or merged with a broader understanding of MAF-related disorders. However, the features of the condition remain well recognized by specialists. People with Aymé-Gripp syndrome typically have intellectual di
How is OBSOLETE: AymÚ-Gripp syndrome inherited?
OBSOLETE: AymÚ-Gripp syndrome follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does OBSOLETE: AymÚ-Gripp syndrome typically begin?
Typical onset of OBSOLETE: AymÚ-Gripp syndrome is neonatal. Age of onset can vary across affected individuals.