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MOMO syndrome information


MOMO syndrome
Other namesMacrosomia-obesity-macrocephaly-ocular abnormalities syndrome, Macrocephaly-obesity-mental disability-ocular abnormalities syndrome
SpecialtyGenetics Edit this on Wikidata

MOMO syndrome is an extremely rare genetic disorder which belongs to the overgrowth syndromes and has been diagnosed in only seven cases around the world, and occurs in 1 in 100 million births. The name is an acronym of the four primary aspects of the disorder: Macrosomia (excessive birth weight), Obesity, Macrocephaly (excessive head size) and Ocular abnormalities. It is unknown if it is a life-limiting condition. MOMO syndrome was first diagnosed in 1993[1] by Professor Danilo Moretti-Ferreira, a Brazilian researcher in the Genetic and Clinical Studies of neurodevelopmental disorders.

This syndrome's acronym is an intended pun. It refers to the traditionally tall and obese king of Carnivals, Momus—Rei Momo in Portuguese.[citation needed]

  1. ^ Moretti-Ferreira D, Koiffmann CP, Listik M, Setian N, Wajntal A (1993). "Macrosomia, obesity, macrocephaly and ocular abnormalities (MOMO syndrome) in two unrelated patients: delineation of a newly recognized overgrowth syndrome". Am J Med Genet. 46 (5): 555–8. doi:10.1002/ajmg.1320460519. PMID 8322820.

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