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MOMO syndrome is a very rare genetic overgrowth/obesity syndrome characterized by macrocephaly, obesity, mental (intellectual) disability and ocular abnormalities. Other frequent clinical signs include macrosomia, downslanting palpebral fissures, hypertelorism, broad nasal root, high and broad forehead and delay in bone maturation, in association with normal thyroid function and karyotype.
Features include: Epicanthus, Large hands, Strabismus, and Delayed eruption of teeth and 29 more.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Eyes | 5 | Strabismus, Retinal coloboma, Nystagmus |
Head and neck |
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
No clinical trials have been registered for MOMO syndrome.
2 publications have been identified in PubMed for MOMO syndrome. Kisho has analyzed 1 by research type. Research spans Case Report / Case Series (100%).
de Oliveira-Sobrinho RP (2024). [PMID: 39634243](https://pubmed.ncbi.nlm.nih.gov/39634243/). *Mol Syndromol*. [Case Report / Case Series]
Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 11:11 AM UTC
Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center
Common questions about MOMO syndrome
3
High palate, Thick lower lip vermilion, Macrocephaly |
Arms and legs | 2 | Large hands, Long foot |
Skin | 1 | Hyperconvex nail |
Brain and nerves | 1 | Intellectual disability |
Bones and joints | 1 | Delayed skeletal maturation |