MOMO syndrome is an extremely rare

genetic disorder A genetic disorder is a health problem caused by one or more abnormalities in the genome. It can be caused by a mutation in a single gene (monogenic) or multiple genes (polygenic) or by a chromosome abnormality. Although polygenic disorders ...

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 An acronym is a type of abbreviation consisting of a phrase whose only pronounced elements are the initial letters or initial sounds of words inside that phrase. Acronyms are often spelled with the initial Letter (alphabet), letter of each wor ...

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 by Professor Danilo Moretti-Ferreira, a

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ian researcher in the Genetic and Clinical Studies of neurodevelopmental disorders. This syndrome's acronym is an intended

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. It refers to the traditionally tall and obese king of Carnivals, Momus— Rei Momo in Portuguese.

Signs and symptoms

Along with the four aspects of the disorder that give it its name, there are also other common symptoms: * A downward slant of the forehead * Delayed bone maturation * Mental retardation The ocular abnormalities are generally

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l coloboma and

nystagmus Nystagmus is a condition of involuntary (or voluntary, in some cases) Eye movement (sensory), eye movement. People can be born with it but more commonly acquire it in infancy or later in life. In many cases it may result in visual impairment, re ...

Pathophysiology

Because MOMO is such a rare disorder, very few studies have been conducted into its causes. Current research suggests that it is linked to a de novo (new)

autosomal dominant In genetics, dominance is the phenomenon of one variant (allele) of a gene on a chromosome masking or overriding the Phenotype, effect of a different variant of the same gene on Homologous chromosome, the other copy of the chromosome. The firs ...

mutation.

Diagnosis

History

Archie Thompson was born in 2002 in Icklesham,

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and weighed 8 lbs 4 oz (3740 g). By 15 months his weight had increased to 4

stone In geology, rock (or stone) is any naturally occurring solid mass or aggregate of minerals or mineraloid matter. It is categorized by the minerals included, its Chemical compound, chemical composition, and the way in which it is formed. Rocks ...

(56 lbs; 25 kg) and by 24 months it was up to 6 stone (84 lbs; 38 kg). The condition placed a large strain on his heart and lungs. The Thompson family were featured in a

documentary A documentary film (often described simply as a documentary) is a nonfiction Film, motion picture intended to "document reality, primarily for instruction, education or maintaining a Recorded history, historical record". The American author and ...

for Five first shown on 3 October 2004. It has since aired on Discovery Fit & Health in the United States. Danielle Falan, from

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, Brazil, is one of the oldest surviving people with MOMO syndrome. At age 17 she was featured in the Archie Thompson documentary as her mother traveled to visit her in Brazil. Falan attended

school A school is the educational institution (and, in the case of in-person learning, the Educational architecture, building) designed to provide learning environments for the teaching of students, usually under the direction of teachers. Most co ...

as normal, and hopes to attend college. Six other cases have been diagnosed, in

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, in Brazil , two in Germany, , in Cuba, 2018 Diorkeblin Hernández Durruthy

, and in Poland. An additional case was reported in 2010.

References

External links

{{DEFAULTSORT:Momo Syndrome Autosomal dominant disorders Medical conditions related to obesity Rare syndromes Genetic disorders with OMIM but no gene