MOMO syndrome

MOMO syndrome is an extremely rare genetic disorder whose name is an acronym for its four cardinal features: Macrosomia (large body size), Obesity, Macrocephaly (abnormally large head), and Ocular abnormalities. This condition is present from birth and affects multiple body systems. Affected individuals typically present with significant obesity beginning in infancy, large head circumference, intellectual disability of variable degree, and eye abnormalities such as retinal coloboma, nystagmus (involuntary eye movements), and downslanting palpebral fissures. Craniofacial features may include a broad nasal bridge, a high and broad forehead, and midface hypoplasia. MOMO syndrome has been associated with de novo mutations in the MED12 gene or, more recently, with truncating variants in the MOMO-associated gene candidates, though the precise genetic basis has been further clarified with identification of causative mutations in the KAT6B gene region in some patients. However, the molecular etiology remains under active investigation given the very small number of reported cases. Additional features can include skeletal anomalies, delayed bone maturation, and mild to moderate developmental delay. There is currently no cure or disease-specific treatment for MOMO syndrome. Management is supportive and multidisciplinary, focusing on addressing individual symptoms. This may include nutritional and weight management programs, ophthalmologic care for ocular abnormalities, developmental and educational support for intellectual disability, and orthopedic monitoring for skeletal issues. Regular follow-up with a clinical geneticist and relevant specialists is recommended. Fewer than 10 cases have been described in the medical literature, making this one of the rarest known genetic conditions.

Common questions about MOMO syndrome