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MOMO syndrome

Rare genetic disorder

Field	Value
synonyms	Macrosomia-obesity-macrocephaly-ocular abnormalities syndrome, Macrocephaly-obesity-mental disability-ocular abnormalities syndrome
name	MOMO syndrome

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 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.

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 retinal coloboma and nystagmus.

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 mutation.

History

Archie Thompson was born in 2002 in Icklesham, England and weighed 8 lbs 4 oz (3740 g). By 15 months his weight had increased to 4 stone (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 for Five first shown on 3 October 2004. It has since aired on Discovery Fit & Health in the United States.

Danielle Falan, from São Paulo, 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 as normal, and hopes to attend college.

Six other cases have been diagnosed, in Italy, in Brazil , two in Germany, , in Cuba, 2018 Diorkeblin Hernández Durruthy http://www.cubaenmiami.com/el-ciren-le-niega-la-atencion-medica-a-nino-cubano-con-sindrome-de-momo/ , and in Poland. An additional case was reported in 2010.

References

(1993). "Macrosomia, obesity, macrocephaly and ocular abnormalities (MOMO syndrome) in two unrelated patients: delineation of a newly recognized overgrowth syndrome". Am J Med Genet.
(June 1993). "Macrosomia, obesity, macrocephaly and ocular abnormalities (MOMO syndrome) in two unrelated patients: delineation of a newly recognized overgrowth syndrome". Am. J. Med. Genet..
(2000). "MOMO syndrome: a possible third case". Clin Dysmorphol.
"EWA – Autografy dla Ewy". [[Onet.pl.
(January 2010). "A new case of MOMO syndrome". Clin. Dysmorphol..

Info: Wikipedia Source

This article was imported from Wikipedia and is available under the Creative Commons Attribution-ShareAlike 4.0 License. Content has been adapted to SurfDoc format. Original contributors can be found on the article history page.

autosomal-dominant-disorders medical-conditions-related-to-obesity rare-syndromes genetic-disorders-with-omim-but-no-gene

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