Dysmorphic syndromes with overgrowth - systematic review.  Part 1 - monogenic syndromes

Excessive growth syndromes are a heterogeneous group of rare congenital disorders characterized by increased body size from the neonatal period or early childhood. In addition to accelerated growth, these conditions frequently co-occur with dysmorphic features and other medical problems, including intellectual disability, organ defects, and an increased risk of cancer. The objective of this study is to present a comprehensive overview of selected dysmorphic syndromes associated with excessive growth, with particular emphasis on syndromes with confirmed or strongly suspected monogenic etiology. The following aspects are discussed in this text: the pathogenesis of the condition, its inheritance, the characteristic clinical symptoms, the diagnostic approach, and the potential treatment options.

A comprehensive analysis of data pertaining to syndromes of excessive growth, accompanied by either a recognized or postulated monogenic basis, was conducted based on scientific literature. A particular emphasis was placed on the examination of endocrinological, oncological, and prognostic aspects. The usefulness of genetic testing in the diagnostic process was also evaluated.

A number of excessive growth syndromes were identified, including Sotos syndrome, Beckwith-Wiedemann syndrome, Simpson-Golabi-Behmel syndrome, Bannayan-Riley-Ruvalcaba syndrome, Marshall-Smith syndrome, Weaver syndrome, Nevo syndrome, and Elejalde syndrome. Clinical symptoms, prevalence of endocrine disorders, and risk of developing cancer were meticulously documented. Following a thorough analysis, a set of diagnostic schemes and indications for monitoring selected complications were proposed.

The diagnosis of overgrowth syndromes is a complex process that requires a meticulous clinical evaluation and the application of contemporary genetic methodologies. Early identification of characteristic phenotypic and molecular features facilitates prompt implementation of appropriate treatment and monitoring of complications. The adaptation of therapeutic strategies to a specific syndrome and patient is pivotal to improving prognosis.