MOMO Syndrome

At a glance

MOMO is an acronym that stands for Macrosomia, Obesity, Macrocephaly, and Ocular abnormalities. Macrocephaly and tall stature, delayed bone development, generalized obesity, numerous ocular abnormalities (retinal coloboma and nystagmus), and mental retardation are the other features.

Synonym

Macrosomia, Obesity, Macrocephaly, Ocular Abnormalities Syndrome.

History

It was first diagnosed in 1993 by Professor Célia Priszkulnik Koiffmann, a Brazilian researcher specialized in Genetic and Clinical Studies of neurodevelopmental disorders. The acronym is supposed to be an intended pun (a joke) as it refers to the traditionally tall and obese king of Carnivals, Momus–Rei Momo in Portuguese.

Incidence

There are a limited number of cases described in the medical literature. Most cases have been seen in Italy, Brazil, Germany, and Portugal.

Genetic inheritance

It is suggested that a new mutation causes the disease, which is inherited as an autosomal dominant inheritance.

Clinical aspects

Two unrelated sibs were first described with significant obesity, mental retardation, macrocephaly, delayed bone maturation, retinal coloboma, nystagmus, and downward slant of palpebral fissures. Tall stature, macrostomia, and delayed eruption of teeth.

Anesthetic considerations

Based on the few cases described, special attention must be paid to the airways because of the generalized, often morbid obesity. The increased risk of gastric content regurgitation must be kept in mind in patients with severe obesity. The presence of macrocephaly may be associated with macroglossia and potential difficult tracheal intubation. Difficulty in mechanical ventilation preoperatively and postoperatively is possible in presence of severe obesity.

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