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.
Macrosomia, Obesity, Macrocephaly, Ocular Abnormalities Syndrome.
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.
There are a limited number of cases described in the medical literature. Most cases have been seen in Italy, Brazil, Germany, and Portugal.
It is suggested that a new mutation causes the disease, which is inherited as an autosomal dominant inheritance.
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.
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.
et al: Macrosomia, obesity, macrocephaly and ocular abnormalities (MOMO syndrome) in two unrelated patients: Delineation of a newly recognized overgrowth syndrome. Am J Med Genet
RD: A new case of MOMO syndrome. Clin Dysmorphol
et al: MOMO syndrome: A possible third case. Clin Dysmorphol