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MOMO syndrome

Disease definition

MOMO syndrome is a very rare genetic overgrowth/obesity syndrome (see this term) characterized by macrocephaly, obesity, mental (intellectual) disability and ocular abnormalities. Other frequent clinical signs include macrosomia, downslanting palpebral fissures, hypertelorism, broad nasal root, high and broad forehead and delay in bone maturation, in association with normal thyroid function and karyotype.


Classification level: Disorder
  • Synonym(s):
    • Macrocephaly-obesity-mental disability-ocular abnormalities syndrome
    • Macrosomia-obesity-macrocephaly-ocular abnormalities syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q87.3
  • OMIM: 157980
  • UMLS: C1834759
  • MeSH: -
  • GARD: 178
  • MedDRA: -
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