Overview
Aniridia-ptosis-intellectual disability-familial obesity syndrome is an extremely rare genetic condition that affects several parts of the body at the same time. The name describes its main features: aniridia (missing or underdeveloped iris, the colored part of the eye), ptosis (drooping eyelids), intellectual disability, and obesity that runs in families. Because the iris helps control how much light enters the eye, people with aniridia often have significant vision problems, including sensitivity to light and reduced sharpness of vision. The drooping eyelids can further limit the field of vision. Intellectual disability in this syndrome can range from mild to moderate, affecting learning, reasoning, and daily problem-solving skills. Obesity typically develops in childhood and can lead to additional health concerns such as diabetes or heart problems over time. This syndrome was first described in a small number of families, and very few cases have been reported in the medical literature. Because it is so rare, there is no specific cure or targeted treatment. Management focuses on addressing each symptom individually — for example, eye surgery or corrective lenses for vision problems, educational support for learning difficulties, and dietary and lifestyle interventions for weight management. A team of specialists working together is usually needed to provide the best care.
Key symptoms:
Missing or underdeveloped iris (colored part of the eye)Drooping eyelidsSensitivity to bright lightReduced vision or poor eyesightIntellectual disability or learning difficultiesChildhood-onset obesityDifficulty with speech or language developmentDelayed developmental milestonesNystagmus (involuntary eye movements)Possible glaucoma or increased eye pressure
Clinical phenotype terms (11)— hover any for plain English
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 Aniridia-ptosis-intellectual disability-familial obesity syndrome.
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Specialists
View all specialists →No specialists are currently listed for Aniridia-ptosis-intellectual disability-familial obesity 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 Aniridia-ptosis-intellectual disability-familial obesity 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 specific genetic testing should my child have to confirm the diagnosis?,How often should my child's eyes be checked for glaucoma or other complications?,What early intervention services are recommended for developmental delays?,Are there specific dietary or exercise programs you recommend for managing obesity?,Should we be screened for any other health conditions related to this syndrome?,Is there a risk that other family members could be affected?,Are there any clinical trials or research studies we could participate in?
Common questions about Aniridia-ptosis-intellectual disability-familial obesity syndrome
What is Aniridia-ptosis-intellectual disability-familial obesity syndrome?
Aniridia-ptosis-intellectual disability-familial obesity syndrome is an extremely rare genetic condition that affects several parts of the body at the same time. The name describes its main features: aniridia (missing or underdeveloped iris, the colored part of the eye), ptosis (drooping eyelids), intellectual disability, and obesity that runs in families. Because the iris helps control how much light enters the eye, people with aniridia often have significant vision problems, including sensitivity to light and reduced sharpness of vision. The drooping eyelids can further limit the field of vi
How is Aniridia-ptosis-intellectual disability-familial obesity syndrome inherited?
Aniridia-ptosis-intellectual disability-familial obesity syndrome follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Aniridia-ptosis-intellectual disability-familial obesity syndrome typically begin?
Typical onset of Aniridia-ptosis-intellectual disability-familial obesity syndrome is neonatal. Age of onset can vary across affected individuals.