It is important to note that some causes of overgrowth, macrosomia, tall stature, macrocephaly, or obesity are not seen in the context of syndromes. The overgrowth syndromes presented all have intellectual disability as a key feature, although it is possible that borderline or low-normal intellect could be seen. For example, approximately 10% of the children with Sotos syndrome have a height 4.5 kg. Operationally, this accommodates the considerable phenotypic and etiologic heterogeneity in this domain. Perhaps the most sensible suggestion came from Cohen who recommended that classification remain “loose,” simply serving as an organizing principle for review and discussion. There have been several suggestions regarding the definition of generalized overgrowth. We concentrate on generalized, symmetrical overgrowth syndromes in this review. Typically, generalized overgrowth is symmetrical whereas segmental overgrowth is asymmetrical. Overgrowth can be generalized (involving the whole body) or localized to one part of the body (segmental).
The term “overgrowth” is in common use in clinical genetics practice, but there is no formal definition. AHunter Genetics, bGrowUpWell Priority Research Center, and cSchool of Medicine and Public Health, The University of Newcastle, dHunter Medical Research Institute, and eMolecular Pathology, Hunter Area Pathology Service, Newcastle, NSW, fDepartment of Clinical Genetics, Nepean Hospital, and gNepean Clinical School, University of Sydney, Penrith, NSW, hGenetic Services of Western Australia, iWestern Australian Register of Developmental Anomalies, jOffice of Population Health Genomics, Public Health Division, Department of Health, Government of Western Australia, kSchool of Paediatrics and Child Health, University of Western Australia, lInstitute for Immunology and Infectious Diseases, Murdoch University, mTelethon Kids Institute, University of Western Australia, and nSpatial Sciences, Department of Science and Engineering, Curtin University, Perth, WA, Australia oDepartment of Clinical Genetics, Capital & Coast District Health Board, Wellington, New Zealand pDepartment of Medical Genetics, University of British Columbia, qBC Children's Hospital Research Institute, Vancouver, BC, Canada, and rSchool of Biomedical Sciences and Pharmacy, The University of Newcastle, Newcastle, NSW, Australia
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