Living with MOMO syndrome
A rare syndrome with larger size from birth, obesity, a large head, and eye differences.
Understanding MOMO syndrome
MOMO stands for being larger than expected from birth (macrosomia), obesity, a large head (macrocephaly), and eye abnormalities. Because macrosomia is not seen in everyone, intellectual disability has been proposed as an identifying feature instead. It is diagnosed when a doctor sees signs consistent with the syndrome, and tests may be done to rule out other genetic syndromes.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Obesity
- Larger-than-expected size at birth
- Overgrowth
- Small eyeballs or gaps in eye tissue (coloboma)
- Eyes that turn (strabismus)
- Broad forehead and other facial differences
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 genetic specialists and hormone specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- Genetic specialists (geneticists); Hormone specialists (endocrinologists)
- 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 the exact cause is unknown. Both autosomal dominant and autosomal recessive inheritance have been suggested.
Also known as: macrocephaly-obesity-mental disability-ocular abnormalities syndrome; macrocephaly, obesity, mental disability, ocular abnormality syndrome; macrosomia-obesity-macrocephaly-ocular abnormalities syndrome; macrosomia, obesity, macrocephaly, and ocular abnormalities; momo (macrocephaly, obesity, mental disability, ocular abnormality) syndrome
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 MOMO syndrome.
Explore research for MOMO syndrome
Explore actively recruiting MOMO syndrome studies with HealthSpark.
Find actively recruiting studies for MOMO 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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