MOMO syndrome

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MOMO Syndrome

MOMO syndrome (pronounced mo-mo) is a rare genetic disorder characterized by macrocephaly, obesity, mental (intellectual) disability, and ocular abnormalities. The term "MOMO" is an acronym derived from the first letter of these four primary symptoms.

Etymology

The term "MOMO" was first used in medical literature in 1993 by Italian researchers who described the syndrome in a medical journal. The name is an acronym for the four primary symptoms: Macrocephaly, Obesity, Mental (intellectual) disability, and Ocular abnormalities.

Symptoms

The primary symptoms of MOMO syndrome include:

  • Macrocephaly - An unusually large head size for a person's age and sex.
  • Obesity - Excessive body fat that increases the risk of health problems.
  • Mental (intellectual) disability - Below-average intellectual function with limitations in areas such as communication, self-care, and social skills.
  • Ocular abnormalities - Eye problems, which can include strabismus (crossed eyes), nystagmus (involuntary eye movement), and optic atrophy (damage to the optic nerve).

Diagnosis

Diagnosis of MOMO syndrome is based on the presence of the four primary symptoms. Genetic testing may also be used to confirm the diagnosis, although the specific genetic mutation associated with the syndrome is not yet known.

Treatment

Treatment for MOMO syndrome is symptomatic and supportive, focusing on managing each symptom. This can include weight management programs, special education services, and treatment for ocular abnormalities.

See also

External links

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