Momo Syndrome

Clinical Features

In 2 unrelated patients, a boy and a girl, Moretti-Ferreira et al. (1993) described an overgrowth syndrome characterized by macrocrania, obesity, ocular abnormalities (retinal coloboma and nystagmus), downward slant of the palpebral fissures, mental retardation, and delayed bone maturation. The parents were not consanguineous. The authors suggested that this syndrome is caused by a de novo autosomal mutation.

Zannolli et al. (2000) described a possible case of MOMO syndrome in a 5-year-old girl with mild mental retardation, macrocephaly, high and broad forehead with frontal bossing, hypertelorism, right optic disc coloboma, left choroidal coloboma, a large nose with broad nasal root, thick upper and lower lips, a high palate, dental malocclusion, short neck, severe obesity, slightly delayed bone maturation, short stature, and recurvation of the femur. Zannolli et al. (2000) suggested that tall stature, which was a feature in the patients reported by Moretti-Ferreira et al. (1993), may not be a diagnostic criterion for the disorder.

Giunco et al. (2008) described a 29-year-old man with macrosomia, obesity, macrocephaly, ocular anomalies (downslanting palpebral fissures, microphthalmia, nystagmus, convergent strabismus, hypertelorism), short neck, large nose with broad nasal root, macroglossia, high palate, large hands and feet, psychomotor delay, epileptic seizures since age 11 months, and the classic features of autism (see 209850). Giunco et al. (2008) suggested that this was the fourth reported case of MOMO syndrome and the first associated with autism.

Wallerstein and Sugalski (2010) described what they considered to be the fourth reported case of MOMO syndrome in a 6-year-old boy with macrosomia, obesity, macrocephaly, ocular anomalies (retinochoroidal coloboma, microphthalmia), cognitive delay, tactile defensiveness, and acute sensitivity to noise.