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

Area of Science:

• Genetics and Developmental Biology
• Pediatric Endocrinology
• Rare Diseases Research

Background:

• Excessive growth syndromes are rare congenital disorders characterized by accelerated growth from birth.
• These syndromes often present with dysmorphic features, intellectual disability, organ defects, and increased cancer risk.

Purpose of the Study:

• To provide a comprehensive overview of selected dysmorphic syndromes associated with excessive growth.
• Emphasis on syndromes with confirmed or suspected monogenic etiology.
• Discussion of pathogenesis, inheritance, clinical symptoms, diagnosis, and treatment.

Main Methods:

• Comprehensive literature analysis of excessive growth syndromes with monogenic basis.
• Focused examination of endocrinological, oncological, and prognostic aspects.
• Evaluation of the utility of genetic testing in diagnosis.

Main Results:

• Identified syndromes include Sotos, Beckwith-Wiedemann, Simpson-Golabi-Behmel, Bannayan-Riley-Ruvalcaba, Marshall-Smith, Weaver, Nevo, and Elejalde syndromes.
• Detailed documentation of clinical symptoms, endocrine disorders, and cancer risks.
• Proposed diagnostic schemes and monitoring guidelines for complications.

Conclusions:

• Diagnosing overgrowth syndromes requires meticulous clinical evaluation and advanced genetic methods.
• Early identification of phenotypic and molecular features enables timely treatment and monitoring.
• Tailored therapeutic strategies are crucial for improving patient prognosis.