MOMO syndrome
Findings
No curated finding names MOMO syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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.
Definition from the Mondo Disease Ontology (MONDO:0008008), read 2026-09-29. CC BY 4.0.
Features
43 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- ObesityHPOHP:0001513
- Obligate (100% of cases)
- Abnormal bone ossificationHPOHP:0011849
- Frequent (30% to 79% of cases)
- Auditory sensitivityHPOHP:0025112
- Frequent (30% to 79% of cases)
- Bilateral microphthalmosHPOHP:0007633
- Frequent (30% to 79% of cases)
- BrachycephalyHPOHP:0000248
- Frequent (30% to 79% of cases)
- Broad foreheadHPOHP:0000337
- Frequent (30% to 79% of cases)
- Chorioretinal colobomaHPO
Reported absent (1)
- Abnormality of the thyroid glandHPOHP:0000820
Show the remaining 31
- Eyelid colobomaHPOHP:0000625
- Frequent (30% to 79% of cases)
- Femoral bowingHPOHP:0002980
- Frequent (30% to 79% of cases)
- Frontal bossingHPOHP:0002007
- Frequent (30% to 79% of cases)
- GlaucomaHPOHP:0000501
- Frequent (30% to 79% of cases)
- High foreheadHPOHP:0000348
- Frequent (30% to 79% of cases)
- High palateHPOHP:0000218
- Frequent (30% to 79% of cases)
Where it sits
- A kind of
Other names
2 names
Resolves to: MOMO syndrome
- Also called
- macrocephaly-obesity-mental disability-ocular abnormalities syndromemacrosomia-obesity-macrocephaly-ocular abnormalities syndrome