Kabuki Syndrome: Dental and Craniofacial Findings

Kabuki syndrome (KS) is a rare, multisystemic congenital disorder characterized by distinct craniofacial features, musculoskeletal abnormalities, and varying degrees of intellectual disability. While diagnosis is primarily clinical, the underlying molecular variability often leads to delayed identification. Given that orodental anomalies are among the earliest quantifiable markers of the syndrome, the dental professional occupies a critical position in the diagnostic pathway. This report describes a female patient presenting with pathognomonic craniofacial traits, including arched supraorbital ridges, a prominent nose, broad nasal bridge with a flattened tip, thick eyebrows and eyelashes, large low-set ears, and prominent lips with an elongated philtrum. Intraoral examination revealed significant dental manifestations, specifically an anterior open bite, retained primary teeth, and anomalies such as missing teeth and impacted teeth. These findings served as the primary clinical indicators that facilitated a multidisciplinary referral and subsequent genetic confirmation. The high prevalence of specific dental findings – estimated to affect over 70% of KS patients – underscores the pivotal role of the dentist in early recognition. By identifying these oral phenotypes during routine examinations, dental practitioners can bridge the diagnostic gap, ensuring timely genetic testing and the initiation of comprehensive, coordinated management.