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.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1002/ajmg.a.35481 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Microdeletion 3q13.2q21.2 in a Patient Previously Diagnosed with MOMO Syndrome.
Mol Syndromol
December 2024
Genética Médica e Medicina Genômica, Departamento de Medicina Translacional, Faculdade de Ciências Médicas, Universidade Estadual de Campinas (Unicamp), Campinas, Brazil.
Article Synopsis
- MOMO syndrome is a rare overgrowth disorder with uncertain causes and varied symptoms, including developmental delays and facial dysmorphism.
- In a case study, a patient exhibited severe developmental issues and atypical symptoms like megaesophagus and severe acne, alongside the typical signs of MOMO syndrome.
- Researchers suggest that the overlap of symptoms between MOMO syndrome, Primrose syndrome, and specific genetic deletions indicates that MOMO could be considered part of a broader microdeletion syndrome spectrum.
Psychological and cognitive evaluation of autism in a patient with MOMO syndrome: a case report and literature review.
Medwave
May 2019
Escuela de Medicina, Universidad de Valparaíso, Viña del Mar, Chile; Centro Interdisciplinario de Estudios en Salud (CIESAL), Universidad de Valparaíso, Valparaíso, Chile. Email:
MOMO is an acronym for macrosomia, obesity, macrocephaly and ocular abnormalities. The syndrome was first described in 1993, with a total of nine patients published thus far. All the cases presented intellectual disability and in one case autism was described.
View Article and Find Full Text PDFA homozygous balanced reciprocal translocation suggests LINC00237 as a candidate gene for MOMO (macrosomia, obesity, macrocephaly, and ocular abnormalities) syndrome.
Am J Med Genet A
November 2012
Univ. Bordeaux, Maladies Rares: Génétique et Métabolisme, Bordeaux, France.
Macrosomia, obesity, macrocephaly, and ocular abnormalities syndrome (MOMO syndrome) has been reported in only four patients to date. In these sporadic cases, no chromosomal or molecular abnormality has been identified thus far. Here, we report on the clinical, cytogenetic, and molecular findings in a child of healthy consanguineous parents suffering from MOMO syndrome.
View Article and Find Full Text PDFMacrocephaly, obesity, mental (intellectual) disability, and ocular abnormalities: alternative definition and further delineation of MOMO syndrome.
Am J Med Genet A
November 2012
Institute of Clinical Genetics, Technical University Dresden, Dresden, Germany.
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.
View Article and Find Full Text PDFMOMO Syndrome with Holoprosencephaly and Cryptorchidism: Expanding the Spectrum of the New Obesity Syndrome.
Case Rep Genet
October 2012
Genetic and Metabolic Unit, Department of Pediatrics, Advanced Pediatric Center (APC), Postgraduate Institute of Medical Education and Research (PGIMER), Chandigarh 160012, India.
There are multiple genetic disorders with known or unknown etiology grouped under obesity syndromes. Inspite of having multisystem involvement and often having a characteristic presentation, the understanding of the genetic causes in the majority of these syndromes is still lacking. The common obesity syndromes are Bardet-Biedl, Prader-Willi, Alstrom, Albright's hereditary osteodystrophy, Carpenter, Rubinstein-Taybi, Fragile X, and Börjeson-Forssman-Lehman syndrome.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!