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Diseases

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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Symptoms

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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.[1]

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.[1]
Last updated: 9/19/2012

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]:


Other Names for this Disease
  • Macrocrania, obesity, ocular abnormalities (retinal coloboma and nystagmus)
  • Macrosomia, obesity, macrocephaly, ocular abnormalities
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.