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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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Overview

What is MOMO syndrome?


What are the signs and symptoms of MOMO syndrome?


Is genetic testing available for MOMO syndrome?


What is MOMO syndrome?

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

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

Is genetic testing available for MOMO syndrome?

No. Genetic testing is not available for MOMO syndrome as the underlying cause of MOMO syndrome has yet to be elucidated. Diagnosis is based upon the clinical findings (i.e., symptoms).
Last updated: 7/19/2010

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.