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 chromosomal 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 word or name formed from the initial components of a longer name or phrase. Acronyms are usually formed from the initial letters of words, as in ''NATO'' (''North Atlantic Treaty Organization''), but sometimes use syllables, as ...
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
Brazil
Brazil ( pt, Brasil; ), officially the Federative Republic of Brazil (Portuguese: ), is the largest country in both South America and Latin America. At and with over 217 million people, Brazil is the world's fifth-largest country by area ...
ian researcher in the Genetic and Clinical Studies of neurodevelopmental disorders.
This syndrome's acronym is an intended
pun
A pun, also known as paronomasia, is a form of word play that exploits multiple meanings of a term, or of similar-sounding words, for an intended humorous or rhetorical effect. These ambiguities can arise from the intentional use of homophoni ...
. 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
retina
The retina (from la, rete "net") is the innermost, light-sensitive layer of tissue of the eye of most vertebrates and some molluscs. The optics of the eye create a focused two-dimensional image of the visual world on the retina, which the ...
l
coloboma and
nystagmus
Nystagmus is a condition of involuntary (or voluntary, in some cases) eye movement. Infants can be born with it but more commonly acquire it in infancy or later in life. In many cases it may result in reduced or limited vision. Due to the invol ...
.
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 effect of a different variant of the same gene on the other copy of the chromosome. The first variant is termed dominant and t ...
mutation.
Diagnosis
History
Archie Thompson was born in 2002 in
Icklesham
Icklesham is a village and civil parish in the Rother district of East Sussex, England. The village is located about six miles (10 km) east of Hastings, on the main A259 Hastings to Rye road. The surrounding countryside is a made up of fi ...
,
England
England is a country that is part of the United Kingdom. It shares land borders with Wales to its west and Scotland to its north. The Irish Sea lies northwest and the Celtic Sea to the southwest. It is separated from continental Europe ...
and weighed 8 lb 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 lb; 25 kg) and by 24 months it was up to 6 stone (84 pounds; 38 kg). The condition placed a large strain on his heart and lungs. The Thompson family were featured in a
documentary for
Five
5 is a number, numeral, and glyph.
5, five or number 5 may also refer to:
* AD 5, the fifth year of the AD era
* 5 BC, the fifth year before the AD era
Literature
* ''5'' (visual novel), a 2008 visual novel by Ram
* ''5'' (comics), an awa ...
first shown on 3 October 2004. It has since aired on
Discovery Fit & Health in the United States.
Danielle Falan, from
São Paulo
São Paulo (, ; Portuguese for ' Saint Paul') is the most populous city in Brazil, and is the capital of the state of São Paulo, the most populous and wealthiest Brazilian state, located in the country's Southeast Region. Listed by the GaW ...
, 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 an educational institution designed to provide learning spaces and learning environments for the teaching of students under the direction of teachers. Most countries have systems of formal education, which is sometimes co ...
as normal, and hopes to attend college.
Six other cases have been diagnosed, in
Italy
Italy ( it, Italia ), officially the Italian Republic, ) or the Republic of Italy, is a country in Southern Europe. It is located in the middle of the Mediterranean Sea, and its territory largely coincides with the homonymous geographical ...
,
in Brazi
two in Germany, , in Cuba, 2018
Diorkeblin Hernández Durruthybr>
, and in Poland.
References
External links
{{DEFAULTSORT:Momo Syndrome
Autosomal dominant disorders
Medical conditions related to obesity
Rare syndromes
Genetic disorders with OMIM but no gene