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MOMO syndrome
Other Names for this Disease
- Macrocrania, obesity, ocular abnormalities (retinal coloboma and nystagmus)
- Macrosomia, obesity, macrocephaly, ocular abnormalities
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Overview
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.[1] 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.[1] It is thought to be caused by a new (de novo) autosomal dominant mutation, although this remains unclear.[1]
References
- 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.
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On this page
General Information
- PubMed is a searchable database of medical literature and lists journal articles that discuss MOMO syndrome. Click on the link to view a sample search on this topic.
- The The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss MOMO syndrome. Click on the link to go to OMIM and review these resources.