MOMO syndrome

Last reviewed 01/2018

  • this exceptionally rare syndrome was first described in 1993
    • the case reports described two unrelated patients, a boy and a girl, with an overgrowth syndrome and the following common characteristics:
      • macrocrania
      • obesity
      • ocular abnormalities (retinal coloboma and nystagmus), downward slant of palpebral fissures, mental retardation, and delayed bone maturation
    • the authors suggested that this syndrome is due to a new autosomal dominant mutation and propose to designate it with the acronym of "MOMO syndrome" (Macrosomia, Obesity, Macrocrania, Ocular anomalities)

Reference:

  1. Am J Med Genet. 1993 15;46(5):555-8