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

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.

• Authors: N Di Donato, A Riess, K Hackmann, A Rump, A Huebner, M von der Hagen, G Hahn, E Schrock, S Tinschert
• Journal: American journal of medical genetics. Part A (Am J Med Genet A) Vol. 158A Issue 11 Pg. 2857-62 (Nov 2012) ISSN: 1552-4833 [Electronic] United States
• PMID: 22821547 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)
• Copyright: Copyright © 2012 Wiley Periodicals, Inc.

Topics

• Abnormalities, Multiple (diagnosis, genetics)
• Brain (pathology)
• Child, Preschool
• Chromosome Banding
• Coloboma (diagnosis, genetics)
• Facies
• Female
• Fetal Macrosomia (diagnosis, genetics)
• Head (abnormalities)
• Humans
• Infant
• Intellectual Disability (diagnosis, genetics)
• Magnetic Resonance Imaging
• Male
• Megalencephaly (diagnosis, genetics)
• Obesity (diagnosis, genetics)
• Phenotype