MOMO syndrome

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MOMO syndrome2016-11-27T08:49:36+00:00

MOMO syndrome 

Momo syndrome image from New Medical Terms

Rei Momo

GENETICS

An über rare–less than a dozen cases in the world literature–autosomal dominant (OMIM:157980) overgrowth syndrome, the name of which is an acronym of MOMO’s four primary features:

• Macrosomia

• Obesity

• Macrocephaly

• Ocular defects–retinal coloboma, nystagmus.

Other findings include a downward slant of the forehead, delayed bone maturation, mental retardation.

It was first described by Professor CP Koiffmann in Brazil who coined the acronym MOMO to play off Rei Momo (Momus), the tall obese King of Carnivals

References http://omim.org/entry/157980

http://en.wikipedia.org/wiki/MOMO_syndrome

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