MOMO syndrome is an extremely rare genetic disorder which has been diagnosed in only four cases around the world. 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 was first diagnosed in 1993 by Professor Célia Priszkulnik Koiffmann, a Brazilian researcher in the Genetic and Clinical Studies of neurodevelopmental disorders. A genetic disorder, or genetic disease is a disease caused, at least in part, by the genes of the person with the disease. ... Acronyms and initialisms are abbreviations formed from the initial letter or letters of words, such as NATO and XHTML, and are pronounced in a way that is distinct from the full pronunciation of what the letters stand for. ... Macrosomia, sometimes also called big baby syndrome, is a potential complication during childbirth and the latter stages of pregnancy. ... Obesity is a significant public health concern throughout the developed and developing world. ... Cephalic disorders are congenital conditions that stem from damage to, or abnormal development of, the budding nervous system. ... An eye is an organ that detects light. ... 1993 is a common year starting on Friday of the Gregorian calendar and marked the Beginning of the International Decade to Combat Racism and Racial Discrimination (1993-2003). ...

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. Human eye cross-sectional view. ... A coloboma is the term used to describe a hole in one of the structures of the eye, such as the lens, eyelid, iris, choroid or optic disc. ... Nystagmus is rapid involuntary rhythmic eye movement, with the eyes moving quickly in one direction (quick phase), and then slowly in the other (slow phase). ...

Pathophysiology

Being 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 [1]. An autosome is a non-sex chromosome. ...

Confirmed cases

Archie Thompson was born in 2001 in Icklesham, England and weighed 8 lb 4 oz (3740 g). By 15 months his weight had increased to 4 stone (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 first shown on 3 October 2004. 2001 is a common year starting on Monday of the Gregorian calendar. ... Royal motto: Dieu et mon droit (French: God and my right) Englands location within the UK Official language English de facto Capital London de facto Largest city London Area  - Total Ranked 1st UK 130,395 km² Population  - Total (2001)  - Density Ranked 1st UK 49,138,831 377/km² Ethnicity... A stone is a unit of weight within the Imperial units system used in the United Kingdom and Ireland, and formerly in a number of Commonwealth countries. ... A documentary is a work in a visual or auditory medium presenting political, scientific, social, or historical subjects in a factual and informative manner. ... five, formerly known as Channel 5, is the United Kingdoms fifth terrestrial TV Channel. ... October 3 is the 276th day of the year (277th in Leap years). ... This is a list of television-related events in 2004. ...

Danielli Furton, from São Paulo, Brazil, is one of the oldest surviving sufferers of MOMO syndrome. At age 17 she was featured in the Archie Thompson documentary as his mother travelled to visit her. Furton attended school as normal, though her physical and mental conditions prevented her from progressing as well as the other students. Landmark buildings Edifício Italia (at left) and Copan (curved façade at center), in São Paulo Downtown. ... Japanese secondary school students in uniform A school is most commonly a place designated for learning. ...

Two other cases have been diagnosed, one in Italy and a second in Brazil [2].

References

• "Macrosomia, obesity, macrocephaly and ocular abnormalities (MOMO syndrome) in two unrelated patients: delineation of a newly recognized overgrowth syndrome" extract at the National Library of Medicine. Retrieved 30 May 2005.
• "Momo Syndrome and the Six Stone Baby" at www.mymultiplesclerosis.co.uk. Retrieved 30 May 2005.

May 30 is the 150th day of the year in the Gregorian calendar (151st in leap years). ... 2005 is a common year starting on Saturday of the Gregorian calendar and is the current year. ... May 30 is the 150th day of the year in the Gregorian calendar (151st in leap years). ... 2005 is a common year starting on Saturday of the Gregorian calendar and is the current year. ...

External links

• "Goodwill of readers brings Christmas joy to Archie and family".
• "Mother travels in hope for six-stone toddler".
• "Archie the six stone baby: extraordinary people".