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Macrocephaly, obesity, mental (intellectual) disability, and ocular abnormalities: Alternative definition and further delineation of MOMO syndrome

2012; Wiley; Volume: 158A; Issue: 11 Linguagem: Inglês

10.1002/ajmg.a.35481

1552-4833

Nataliya Di Donato, Angelika Rieß, Karl Hackmann, Andreas Rump, Angela Huebner, Maja von der Hagen, Gabriele Hahn, Evelin Schröck, Sigrid Tinschert,

Pancreatic function and diabetes

Abstract MOMO syndrome, previously defined as Macrosomia, Obesity, Macrocephaly, and Ocular abnormalities (OMIM 157980) is a rare intellectual disability syndrome of unknown cause. We describe two further patients with MOMO syndrome. Reported data of patients with MOMO syndrome and our own findings indicate that overgrowth does not appear to be a specific feature. We propose to form the acronym “MOMO” from Macrocephaly, Obesity, Mental (intellectual) disability, and Ocular abnormalities, excluding macrosomia from the syndrome name. The combination of obesity, macrocephaly, and colobomas is unique, therefore these features can be used as major diagnostic criteria of MOMO syndrome. © 2012 Wiley Periodicals, Inc.