title: 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: Institute of Clinical Genetics, Technical University Dresden, Dresden, Germany. nataliya.didonato@uniklinikum-dresden.de
authors: N
authors: N
authors: Di Donato
authors: A
authors: A
authors: Riess
authors: K
authors: K
authors: Hackmann
authors: A
authors: A
authors: Rump
authors: A
authors: A
authors: Huebner
authors: M
authors: M
authors: von der Hagen
authors: G
authors: G
authors: Hahn
authors: E
authors: E
authors: Schrock
authors: S
authors: S
authors: Tinschert
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000235:genetics; D001921:Brain / Q000473:pathology; D002675:Child, Preschool; D002871:Chromosome Banding; D003103:Coloboma / Q000175:diagnosis* / Q000235:genetics; D019066:Facies; D005260:Female; D005320:Fetal Macrosomia / Q000175:diagnosis* / Q000235:genetics; D006257:Head / Q000002:abnormalities; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000175:diagnosis* / Q000235:genetics; D008279:Magnetic Resonance Imaging; D008297:Male; D058627:Megalencephaly / Q000175:diagnosis* / Q000235:genetics; D009765:Obesity / Q000175:diagnosis* / Q000235:genetics; D010641:Phenotype