Abstract
Simpson-Golabi-Behmel syndrome (SGBS) is a rare congenital overgrowth condition characterized by macrosomia, macroglossia, coarse facial features, and development delays. It is caused by pathogenic variants in the GPC3 gene on chromosome Xq26.2. Here, we performed a comprehensive literature review and phenotyping of known patients with molecularly confirmed SGBS and reviewed a novel cohort of 22 patients. Using these data, we characterized the tumor risk for Wilms tumor and hepatoblastoma to suggest appropriate screening for this patient population. In addition, we discuss the phenotypic overlap between SGBS and Beckwith-Wiedemann Spectrum.
Keywords:
Simpson‐Golabi‐Behmel syndrome; cancer predisposition; cancer risk; macroglossia; macrosomia; overgrowth.
© 2024 The Author(s). American Journal of Medical Genetics Part A published by Wiley Periodicals LLC.
MeSH terms
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Arrhythmias, Cardiac* / diagnosis
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Arrhythmias, Cardiac* / genetics
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Arrhythmias, Cardiac* / pathology
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Beckwith-Wiedemann Syndrome / diagnosis
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Beckwith-Wiedemann Syndrome / genetics
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Beckwith-Wiedemann Syndrome / pathology
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Child
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Child, Preschool
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Female
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Genetic Diseases, X-Linked* / diagnosis
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Genetic Diseases, X-Linked* / genetics
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Genetic Diseases, X-Linked* / pathology
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Genetic Predisposition to Disease
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Gigantism* / diagnosis
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Gigantism* / genetics
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Gigantism* / pathology
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Glypicans* / genetics
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Heart Defects, Congenital* / genetics
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Heart Defects, Congenital* / pathology
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Hepatoblastoma / diagnosis
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Hepatoblastoma / genetics
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Hepatoblastoma / pathology
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Humans
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Infant
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Intellectual Disability* / genetics
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Intellectual Disability* / pathology
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Male
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Mutation / genetics
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Phenotype*
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Wilms Tumor / genetics
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Wilms Tumor / pathology
Substances
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Glypicans
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GPC3 protein, human
Supplementary concepts
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Simpson-Golabi-Behmel syndrome