MOMO syndrome

• 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