Macrocephaly, obesity, mental (intellectual) disability, and ocular abnormalities: alternative definition and further delineation of MOMO syndrome

Am J Med Genet A. 2012 Nov;158A(11):2857-62. doi: 10.1002/ajmg.a.35481. Epub 2012 Jul 20.

Abstract

MOMO syndrome, previously defined as Macrosomia, Obesity, Macrocephaly, and Ocular abnormalities (OMIM 157980) is a rare intellectual disability syndrome of unknown cause. We describe two further patients with MOMO syndrome. Reported data of patients with MOMO syndrome and our own findings indicate that overgrowth does not appear to be a specific feature. We propose to form the acronym "MOMO" from Macrocephaly, Obesity, Mental (intellectual) disability, and Ocular abnormalities, excluding macrosomia from the syndrome name. The combination of obesity, macrocephaly, and colobomas is unique, therefore these features can be used as major diagnostic criteria of MOMO syndrome.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Abnormalities, Multiple / diagnosis*
  • Abnormalities, Multiple / genetics
  • Brain / pathology
  • Child, Preschool
  • Chromosome Banding
  • Coloboma / diagnosis*
  • Coloboma / genetics
  • Facies
  • Female
  • Fetal Macrosomia / diagnosis*
  • Fetal Macrosomia / genetics
  • Head / abnormalities
  • Humans
  • Infant
  • Intellectual Disability / diagnosis*
  • Intellectual Disability / genetics
  • Magnetic Resonance Imaging
  • Male
  • Megalencephaly / diagnosis*
  • Megalencephaly / genetics
  • Obesity / diagnosis*
  • Obesity / genetics
  • Phenotype

Supplementary concepts

  • Macrosomia obesity macrocephaly ocular abnormalities