MOMO syndrome is an extremely rare
genetic disorderA genetic disorder is an illness caused by abnormalities in genes or chromosomes, especially a condition that is present from before birth. Most genetic disorders are quite rare and affect one person in every several thousands or millions....
which belongs to the overgrowth syndromes and has been diagnosed in only six 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),
ObesityObesity is a medical condition in which excess body fat has accumulated to the extent that it may have an adverse effect on health, leading to reduced life expectancy and/or increased health problems...
,
MacrocephalyMacrocephaly , occurs when the head is abnormally large; this includes the scalp, the cranial bone, and the contents of the cranium.-Causes:...
(excessive head size) and
OcularThe human eye is an organ which reacts to light for several purposes. As a conscious sense organ, the eye allows vision. Rod and cone cells in the retina allow conscious light perception and vision including color differentiation and the perception of depth...
abnormalities. It is unknown if it is a life-limiting condition. MOMO syndrome was first diagnosed in 1993 by Professor Célia Priszkulnik Koiffmann, a
BrazilBrazil , officially the Federative Republic of Brazil , is the largest country in South America. It is the world's fifth largest country, both by geographical area and by population with over 192 million people...
ian researcher in the Genetic and Clinical Studies of neurodevelopmental disorders.
MOMO syndrome is an extremely rare
genetic disorderA genetic disorder is an illness caused by abnormalities in genes or chromosomes, especially a condition that is present from before birth. Most genetic disorders are quite rare and affect one person in every several thousands or millions....
which belongs to the overgrowth syndromes and has been diagnosed in only six 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),
ObesityObesity is a medical condition in which excess body fat has accumulated to the extent that it may have an adverse effect on health, leading to reduced life expectancy and/or increased health problems...
,
MacrocephalyMacrocephaly , occurs when the head is abnormally large; this includes the scalp, the cranial bone, and the contents of the cranium.-Causes:...
(excessive head size) and
OcularThe human eye is an organ which reacts to light for several purposes. As a conscious sense organ, the eye allows vision. Rod and cone cells in the retina allow conscious light perception and vision including color differentiation and the perception of depth...
abnormalities. It is unknown if it is a life-limiting condition. MOMO syndrome was first diagnosed in 1993 by Professor Célia Priszkulnik Koiffmann, a
BrazilBrazil , officially the Federative Republic of Brazil , is the largest country in South America. It is the world's fifth largest country, both by geographical area and by population with over 192 million people...
ian researcher in the Genetic and Clinical Studies of neurodevelopmental disorders.
This syndrome's acronym is an intended
punThe pun, also called paronomasia, is a form of word play which suggests two or more meanings, by exploiting multiple meanings of words, or of similar-sounding words, for an intended humorous or rhetorical effect. These ambiguities can arise from the intentional use and abuse of homophonic,...
. 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
retinaThe vertebrate retina is a light-sensitive tissue lining the inner surface of the eye. The optics of the eye create an image of the visual world on the retina, which serves much the same function as the film in a camera. Light striking the retina initiates a cascade of chemical and electrical...
l
colobomaA coloboma is a hole in one of the structures of the eye, such as the iris, retina, choroid or optic disc...
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 dominantAn autosome is a chromosome that is not a sex chromosome, or allosome; that is to say, there is an equal number of copies of the chromosome in males and females. For example, in humans, there are 22 pairs of autosomes. In addition to autosomes, there are sex chromosomes, to be specific: X and Y...
mutation.
Confirmed cases
Archie Thompson was born in 2002 in Icklesham,
EnglandEngland is a country that is part of the United Kingdom. It shares land borders with Scotland to the north and Wales to the west; the Irish Sea is to the north west, the Celtic Sea to the south west, with the North Sea to the east and the English Channel to the south separating it from continental...
and weighed 8 lb 4 oz (3740 g). By 15 months his weight had increased to 4
stoneThe stone is a units of measurement that was used in many North European countries until the advent of metrication. It value, which ranged from 3 kg to 12 kg, varied from city to city and also often from commodity to commodity...
(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
documentaryDocumentary films constitute a broad category of nonfictional motion pictures intended to document some aspect of reality, primarily for the purposes of instruction or maintaining a historical record...
for Five first shown on 3 October 2004. It has since aired on
Discovery Fit & HealthDiscovery Fit & Health is an American cable television network owned by Discovery Communications dedicated to fitness and health. Launched on February 1, 2011, it is the result of the merger of Discovery Health Channel and FitTV and features programs formerly found on both...
in the United States.
Danielle Falan, from
São PauloSão Paulo is the largest city in Brazil, the largest city in the southern hemisphere and South America, and the world's seventh largest city by population. The metropolis is anchor to the São Paulo metropolitan area, ranked as the second-most populous metropolitan area in the Americas and among...
, Brazil, is one of the oldest surviving sufferers of MOMO syndrome. At age 17 she was featured in the Archie Thompson documentary as her mother traveled to visit her in Brazil. Falan attended
schoolA school is an institution designed for the teaching of students under the direction of teachers. Most countries have systems of formal education, which is commonly compulsory. In these systems, students progress through a series of schools...
as normal, and hopes to attend college.
Five other cases have been diagnosed, in
ItalyItaly , officially the Italian Republic languages]] under the European Charter for Regional or Minority Languages. In each of these, Italy's official name is as follows:;;;;;;;;), is a unitary parliamentary republic in South-Central Europe. To the north it borders France, Switzerland, Austria and...
, in Brazil
http://www.mymultiplesclerosis.co.uk/misc/archiethompson.html, two in Germany, and in Poland. An additional case was reported in 2010.