Macrosomia, obesity, macrocephaly, ocular abnormalities
Type of disease: Rare conditions
MOMO syndrome is a rare syndrome that was named for the characteristics of Macrocephaly, Obesity, Macrosomia, and Ocular anomalies that were present in the individuals first reported. It has also been proposed that the acronym stand for Macrocephaly, Obesity, Mental (intellectual) disability, and Ocular abnormalities because overgrowth (macrosomia) did not appear to be a feature in all affected individuals. The most common features that have been reported include generalized obesity starting from early childhood; macrocephaly; ocular abnormalities (especially retinal or choroid coloboma); delayed bone age; and intellectual disability. It is thought to be caused by a new (de novo) autosomal dominant mutation, although this remains unclear. Source: Genetic and Rare Diseases Information Center (GARD), supported by ORDR-NCATS and NHGRI.