Overview
Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome, also known as MOMES syndrome (Microphthalmia, Obesity, Mental deficiency, Eye abnormalities, and Skin abnormalities), is an extremely rare genetic condition that affects multiple body systems. The syndrome is characterized by a combination of eye abnormalities, body weight issues, genital underdevelopment, and learning difficulties. The eye problems include microphthalmia, which means one or both eyes are abnormally small, and coloboma, which is a gap or defect in structures of the eye such as the iris, retina, or optic nerve. These eye abnormalities can significantly affect vision. Individuals with this condition also tend to develop obesity, often beginning in childhood. Hypogenitalism refers to underdevelopment of the reproductive organs, which can affect puberty and fertility. Intellectual disability ranges from mild to moderate, affecting learning, reasoning, and daily problem-solving skills. There is currently no cure for this syndrome. Treatment focuses on managing each symptom individually. This may include corrective lenses or surgery for eye problems, weight management programs, hormone therapy for genital underdevelopment, and special education support for intellectual disability. Because the condition is so rare, treatment plans are highly individualized and require coordination among multiple specialists.
Key symptoms:
Abnormally small eyes (microphthalmia)Gaps or defects in eye structures (coloboma)Vision loss or impaired visionObesity or excessive weight gainUnderdeveloped genitalsIntellectual disability or learning difficultiesDelayed pubertySkin abnormalitiesDelayed developmental milestonesShort stature in some cases
Clinical phenotype terms (14)— hover any for plain English
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome.
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Specialists
View all specialists →No specialists are currently listed for Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability 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 Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability 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 is the severity of my child's eye condition, and what treatments can help preserve or improve vision?,Should we pursue genetic testing, and what type of testing do you recommend?,What strategies can help manage weight gain effectively?,When should we consider hormone therapy for genital underdevelopment?,What early intervention and educational services should we set up?,Are there any clinical trials or research studies we could participate in?,How often should we schedule follow-up visits with each specialist?
Common questions about Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome
What is Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome?
Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome, also known as MOMES syndrome (Microphthalmia, Obesity, Mental deficiency, Eye abnormalities, and Skin abnormalities), is an extremely rare genetic condition that affects multiple body systems. The syndrome is characterized by a combination of eye abnormalities, body weight issues, genital underdevelopment, and learning difficulties. The eye problems include microphthalmia, which means one or both eyes are abnormally small, and coloboma, which is a gap or defect in structures of the eye such as the iris, retin
How is Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome inherited?
Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome typically begin?
Typical onset of Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome is neonatal. Age of onset can vary across affected individuals.