MOMO syndrome

MOMO syndrome
Other names	Macrosomia-obesity-macrocephaly-ocular abnormalities syndrome, Macrocephaly-obesity-mental disability-ocular abnormalities syndrome
Specialty	Genetics

MOMO syndrome is an extremely rare

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]}

Signs and symptoms

Along with the four aspects of the disorder that give it its name, there are also other common symptoms:^{[citation needed]}

• A downward slant of the forehead
• Delayed bone maturation
• Mental retardation

The ocular abnormalities are generally

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.^[2]

Diagnosis

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History

Archie Thompson was born in 2002 in

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.^{[citation needed]}

Six other cases have been diagnosed, in Italy,^[3] in Brazil [1],^{[unreliable source?]} two in Germany, ^{[citation needed]}, in Cuba, 2018 Diorkeblin Hernández Durruthy [2] ^{[unreliable source?]} [3] ^{[unreliable source?]}, and in Poland.^[4] An additional case was reported in 2010.^[5]

References