MOMO syndrome

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MOMO syndrome is an extremely rare genetic disorder which belongs to the overgrowth syndromes and 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.

1 Signs and symptoms
2 Pathophysiology
3 Confirmed cases
4 References
5 External links

[edit] 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.

[edit] Pathophysiology

MOMO syndrome is inherited in an autosomal dominant pattern.

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 (PMID 8322820).

[edit] Confirmed cases

Archie Thompson was born in 2002 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.

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 traveled to visit her. Furton attended school as normal, though her physical and mental conditions prevented her from progressing as well as the other students.

Two other cases have been diagnosed, one in Italy and a second in Brazil [1].

[edit] References

Moretti-Ferreira D, Koiffmann CP, Listik M, Setian N, Wajntal A (1993). "Macrosomia, obesity, macrocephaly and ocular abnormalities (MOMO syndrome) in two unrelated patients: delineation of a newly recognized overgrowth syndrome". Am J Med Genet 46 (5): 555-8. PMID 8322820.
Zannolli R, Mostardini R, Hadjistilianou T, Rosi A, Berardi R, Morgese G (2000). "MOMO syndrome: a possible third case". Clin Dysmorphol 9 (4): 281-4. PMID 11045586.
"Momo Syndrome and the Six Stone Baby" at www.mymultiplesclerosis.co.uk. Retrieved 30 May 2005.