MOMO syndrome is an extremely rare genetic disorder belonging to the overgrowth syndromes. It has been diagnosed in only seven cases worldwide and occurs in about 1 in 100 million births. The name is an acronym of its four primary features: macrosomia, meaning excessive birth weight, obesity, macrocephaly, meaning excessive head size, and ocular abnormalities. It is unknown whether the condition limits life expectancy. It was first diagnosed in 1993 by the Brazilian researcher Danilo Moretti-Ferreira, who studies the genetics of neurodevelopmental disorders. The acronym is an intended pun on Momus, the traditionally tall and obese king of Carnivals, called Rei Momo in Portuguese.
Facts
Classification
ICD-10 ChapterXVII: Congenital Malformations, Deformations and Chromosomal Abnormalities 1 Communicable or Non-communicable Causative Agent
Causative Agent (category) First Described Sources
1. World Health Organization ICD-10: ICD-10 Version:2019 - Q80-Q89
World Health Organization ICD-10Category Q87.3Quote, Category Q87.3
Q87.3 Congenital malformation syndromes involving early
2. MOMO syndrome (Wikipedia)
Lead paragraph
is an extremely rare genetic disorder
Lead paragraph [first-described-year]
was first diagnosed in 1993 by Professor Danilo Moretti-Ferreira
Lead: disease category
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.
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