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

• Published in: American journal of medical genetics. Part A Vol. 158A; no. 11; pp. 2857 - 2862
• Main Authors: Di Donato, N., Riess, A., Hackmann, K., Rump, A., Huebner, A., von der Hagen, M., Hahn, G., Schrock, E., Tinschert, S.
• Format: Journal Article
• Language: English
• Published: Hoboken Wiley Subscription Services, Inc., A Wiley Company 01.11.2012; Wiley-Liss; Wiley Subscription Services, Inc
• Subjects: Abnormalities, Multiple - diagnosis; Abnormalities, Multiple - genetics; Adult and adolescent clinical studies; Biological and medical sciences; Brain - pathology; Child, Preschool; Chromosome Banding; coloboma; Coloboma - diagnosis; Coloboma - genetics; Data processing; Facies; Female; Fetal Macrosomia - diagnosis; Fetal Macrosomia - genetics; Head - abnormalities; Humans; Infant; Intellectual deficiency; intellectual disability; Intellectual Disability - diagnosis; Intellectual Disability - genetics; macrocephaly; Magnetic Resonance Imaging; Male; Malformations of the eye; Medical genetics; Medical sciences; Megalencephaly - diagnosis; Megalencephaly - genetics; Metabolic diseases; MOMO syndrome; Obesity; Obesity - diagnosis; Obesity - genetics; ocular abnormalities; Ophthalmology; Phenotype; Psychology. Psychoanalysis. Psychiatry; Psychopathology. Psychiatry; Mental disability; Obesity; Nutrition disorder; Coloboma; Definition; Developmental disorder; MOMO syndrome; Mental retardation; Eye; Symptomatology; Eye disease; Phenotype; Malformation; Intellectual deficiency; ocular abnormalities; Nutritional status; Macrocephaly; intellectual disability
• ISSN: 1552-4825; 1552-4833
• DOI: 10.1002/ajmg.a.35481

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.