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.
Last updated: 9/14/2012
What are the signs and symptoms of MOMO syndrome?
The most consistent features that have been reported in affected individuals are generalized obesity starting from early childhood; macrocephaly present either at birth or postnatally; ocular (eye) abnormalities (especially retinal or choroid coloboma); delayed bone age; and intellectual disability.
Although intellectual disability has been present in all reported patients, the type and severity appears to be variable. Some affected individuals have also been described has having other features including autism; “schizoid” behavior; irritability; developmental delay; speech delay; anxiety; severe tactile defensiveness; and/or extreme sound sensitivity.
With regard to ocular (eye) abnornalities, all but one affected individual reportedly showed either unilateral or bilateral ocular coloboma, involving the choroid, retina, and/or optic nerve. Other reported ocular abnormalities include microphthalmia, nystagmus, and convergent strabismus.
Last updated: 9/19/2012
Do individuals with MOMO syndrome have decreased life expectancy?
It is unclear whether MOMO syndrome causes decreased life expectancy in affected individuals. There have only been a few cases of MOMO syndrome reported in the medical literature, and information about long-term complications associated with the disease is scarce. Furthermore, potential complications likely depend on the specific signs and symptoms present in each affected individual.
Last updated: 9/19/2012
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Di Donato N. et al. Macrocephaly, obesity, mental (intellectual) disability, and ocular abnormalities: Alternative definition and further delineation of MOMO syndrome. Am J Med Genet A. July 20, 2012; [Epub ahead of print]: