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MOMO syndrome, short for "macrosomia, obesity, macrocephaly, and ocular abnormalities," is an exceedingly rare genetic disorder characterized by distinctive physical features and developmental issues. It is caused by a mutation in the UPD14 paternal allele, leading to an extra copy of genetic material on chromosome 14. This condition typically manifests in infancy or early childhood. Individuals with MOMO syndrome often exhibit macrosomia, which refers to abnormally large body size at birth, followed by rapid weight gain leading to obesity. Macrocephaly, an unusually large head size, is another hallmark, often accompanied by facial dysmorphisms such as a prominent forehead, broad nasal bridge, and widely spaced eyes. Moreover, ocular abnormalities like strabismus (crossed eyes) or refractive errors may be present. Intellectual disability, delayed motor skills, and speech development challenges are also commonly associated with MOMO syndrome. Management involves early intervention with therapies addressing developmental delays, while ongoing medical care focuses on monitoring and addressing the associated health complications, including obesity-related concerns. Due to its rarity, treatment plans are primarily supportive and aimed at improving the individual's quality of life.
