In the article “Rare Genetic Syndromes and Oral Anomalies: A Review of the Literature and Case Series with a New Classification Proposal”, Salerno and colleagues provide an extensive review of the literature, highlighting the clinical relevance of oral manifestations in systemic genetic disorders.
They also introduce an innovative classification system designed to help dentists and healthcare professionals identify and interpret these anomalies in daily practice.
The authors analyzed more than 600 publications, selecting 351 studies that reported 62 rare syndromes with documented oral findings.
To strengthen the review, they also presented five clinical cases—including Crouzon syndrome, CHARGE syndrome, Cornelia de Lange syndrome, progeria, and congenital myopathies—demonstrating how oral anomalies may guide early diagnosis and multidisciplinary management.
A novel classification is proposed, grouping oral anomalies according to the affected structures (bone, teeth, soft tissues, tongue, or mixed presentations).
This structured approach allows dental professionals to anticipate possible manifestations and to collaborate effectively with geneticists, pediatricians, orthodontists, and maxillofacial surgeons in patient care.
For the global dental community, this review represents an essential resource that bridges genetics and dentistry, encouraging clinicians to recognize the mouth as a gateway for early detection of systemic conditions.
👉 We invite dentists and specialists worldwide to READ AND DOWNLOAD THE FULL ARTICLE IN PDF via MDPI to explore this valuable contribution in detail.
