Oral and craniofacial features associated with Cri du Chat Syndrome: a systematic review

Abstract

Cri du Chat Syndrome (CdCS), resulting from a partial deletion of the short arm of chromosome 5, is a rare genetic disorder characterized by a distinctive high-pitched cry in infancy, intellectual disability, developmental delays, and specific dysmorphic features. While systemic aspects are well-documented, the oral and craniofacial manifestations present unique challenges for affected individuals and dental practitioners. This review synthesizes findings from selected literature to provide a comprehensive overview of the craniofacial morphology, dental anomalies, oral pathologies, and dental management strategies pertinent to individuals with CdCS. Key findings include a high prevalence of mandibular retrognathism, high-arched palate, anterior open bite, perioral muscle hypotonia, specific dental anomalies such as enamel hypoplasia, and significant challenges in behavior management during dental treatment. Understanding these features is crucial for developing effective preventive and therapeutic dental care plans, improving the oral health-related quality of life for patients with CdCS within a necessary multidisciplinary framework. The current literature is poor of information regarding oral health findings in patients affected by CdCS. The aim of the present systematic review was to review the literature about oral and craniofacial manifestations associated with CdCS.

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