MOMO syndrome

MOMO syndrome is a rare genetic disorder characterized by four primary features: Macrosomia, Obesity, Macrocephaly, and Ocular abnormalities. The syndrome was first described in the medical literature in 1993 by Dr. C. Le Merrer and colleagues. The name MOMO is an acronym derived from the main symptoms of the disorder.

Symptoms and Characteristics

Individuals with MOMO syndrome typically present with the following features:

• Macrosomia: This refers to an abnormally large body size and is often noticeable at birth.
• Obesity: Excessive body fat accumulation, which can develop in early childhood.
• Macrocephaly: An unusually large head circumference.
• Ocular abnormalities: These can include a range of eye-related issues, such as strabismus, myopia, and other visual impairments.

Additional features may include developmental delays, intellectual disabilities, and distinctive facial features such as a prominent forehead and a broad nasal bridge.

Genetics

MOMO syndrome is believed to follow an autosomal recessive inheritance pattern, meaning that an individual must inherit two copies of the mutated gene, one from each parent, to be affected by the disorder. The specific gene or genes involved in MOMO syndrome have not yet been identified.

Diagnosis

Diagnosis of MOMO syndrome is primarily based on clinical evaluation and the presence of characteristic symptoms. Genetic testing may be used to support the diagnosis, although the exact genetic cause remains unknown.

Management and Treatment

There is no cure for MOMO syndrome, and treatment is symptomatic and supportive. Management may involve a multidisciplinary approach, including:

• Pediatricians for overall health monitoring.
• Endocrinologists for managing obesity and related metabolic issues.
• Ophthalmologists for addressing ocular abnormalities.
• Developmental pediatricians and therapists for developmental support and interventions.

Epidemiology

MOMO syndrome is extremely rare, with only a few cases reported in the medical literature. Due to its rarity, the exact prevalence is unknown.

See Also

• Genetic disorder
• Macrosomia
• Obesity
• Macrocephaly
• Ocular abnormalities
• Autosomal recessive

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