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

Publikation: Beitrag in FachzeitschriftForschungsartikelBeigetragenBegutachtung

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.

Details

OriginalspracheEnglisch
Seiten (von - bis)2857-2862
Seitenumfang6
FachzeitschriftAmerican Journal of Medical Genetics, Part A
Jahrgang158A
Ausgabenummer11
PublikationsstatusVeröffentlicht - Nov. 2012
Peer-Review-StatusJa

Externe IDs

Scopus 84867877273
researchoutputwizard legacy.publication#48110
PubMed 22821547
researchoutputwizard legacy.publication#49142
researchoutputwizard legacy.publication#48052

Schlagworte

Ziele für nachhaltige Entwicklung

Schlagwörter

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