/MOMO syndrome

MOMO syndrome

Rare Disease

MONDO:0008008

Also Known As

MOMO syndromemacrocephaly-obesity-mental disability-ocular abnormalities syndromemacrosomia-obesity-macrocephaly-ocular abnormalities syndromemacrocrania, obesity, ocular abnormalities (retinal coloboma and nystagmus)macrosomia, obesity, macrocephaly, and ocular abnormalitiesmacrosomia, obesity, macrocephaly, ocular abnormalities

Definition

MOMO syndrome is a very rare genetic overgrowth/obesity syndrome characterized by macrocephaly, obesity, mental (intellectual) disability and ocular abnormalities. Other frequent clinical signs include macrosomia, downslanting palpebral fissures, hypertelorism, broad nasal root, high and broad forehead and delay in bone maturation, in association with normal thyroid function and karyotype.