MOMO syndrome
MeSH: C535812ORPHA: 2563
Overview
extremely rare genetic disorder which belongs to the overgrowth syndromes and has been diagnosed in only six cases around the world, and occurs in 1 in 100 million births
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with MOMO syndrome, sourced from HPO and Orphanet clinical annotations.
ObesityThick lower lip vermilionThick upper lip vermilionHigh palateBrachycephalyMacrocephalyEpicanthusHypertelorismSmooth philtrumBroad foreheadLong philtrumHigh foreheadShort neckStrabismusDownslanted palpebral fissuresGlaucomaChorioretinal colobomaEyelid colobomaNystagmusTaurodontiaDelayed eruption of teethDental malocclusionShort sternumCutis marmorataLarge handsIntellectual disabilitySeizureLarge for gestational ageOvergrowthHyperconvex nailLong footFrontal bossingFemoral bowingShort statureBilateral microphthalmosUnderfolded helixAbnormal bone ossificationWide nasal baseAuditory sensitivityTall statureBlindnessAutismCongenital pseudoarthrosis of the clavicle
Classification & Codes
MeSH Code
C535812Orphanet Code
ORPHA:2563MOMO syndrome
| MeSH | C535812 |
| Orphanet | ORPHA:2563 |
| Treatments | 0 drug(s) |
| Symptoms on record | 43 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO