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Genetic and Rare Diseases Information Center (GARD)

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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 novoautosomal dominant mutation, although this remains unclear.[1]
Last updated: 9/14/2012

References

  1. 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]:
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In Depth Information

  • The Online Mendelian Inheritance in Man (OMIM) is an catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • 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.