Overgrowth Syndromes-Evaluation, Diagnosis, and Management

Joshua Manor; Seema R Lalani

doi:10.3389/fped.2020.574857

Overgrowth Syndromes-Evaluation, Diagnosis, and Management

Front Pediatr. 2020 Oct 30:8:574857. doi: 10.3389/fped.2020.574857. eCollection 2020.

Authors

Joshua Manor¹, Seema R Lalani¹

Affiliation

¹ Department of Molecular Genetics, Baylor College of Medicine, Houston, TX, United States.

Abstract

Abnormally excessive growth results from perturbation of a complex interplay of genetic, epigenetic, and hormonal factors that orchestrate human growth. Overgrowth syndromes generally present with inherent health concerns and, in some instances, an increased risk of tumor predisposition that necessitate prompt diagnosis and appropriate referral. In this review, we introduce some of the more common overgrowth syndromes, along with their molecular mechanisms, diagnostics, and medical complications for improved recognition and management of patients affected with these disorders.

Keywords: Beckwith-Wiedemann; PIK3CA; Proteus Syndrome; Pten; Simpson-Golabi-Behmel; Sotos; Weaver; overgrowth.

Publication types

Review