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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

The Human Phenotype Ontology provides the following list of signs and symptoms for MOMO syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms.

Signs and Symptoms Approximate number of patients (when available)
Chorioretinal coloboma 90%
Cognitive impairment 90%
Delayed eruption of teeth 90%
Delayed skeletal maturation 90%
Macrocephaly 90%
Obesity 90%
Tall stature 90%
Wide mouth 90%
Cleft eyelid 50%
Downslanted palpebral fissures 50%
Glaucoma 50%
Nystagmus 50%
Visual impairment 50%
Autosomal dominant inheritance -
Blindness -
Brachycephaly -
Broad forehead -
Cleft eyelid -
Cutis marmorata -
Delayed eruption of teeth -
Delayed skeletal maturation -
Dental malocclusion -
Downslanted palpebral fissures -
Epicanthus -
Frontal bossing -
Glaucoma -
High forehead -
High palate -
Hyperconvex nail -
Hypertelorism -
Intellectual disability -
Large hands -
Long foot -
Long philtrum -
Macrocephaly -
Nystagmus -
Obesity -
Overgrowth -
Retinal coloboma -
Short neck -
Short sternum -
Smooth philtrum -
Strabismus -
Taurodontia -
Thick lower lip vermilion -
Underfolded helix -
Wide nasal bridge -

Last updated: 11/3/2014

The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature.

The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined.

Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.


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.