Oral and maxillofacial manifestations associated with Kabuki syndrome: A systematic review - 21/04/26

Doi : 10.1016/j.jormas.2026.102802

Alexandra Delay ^a,^⁎ , Florent Barry ^a, Virginie Lafontaine ^a, Simon Mottay ^a, Joël Ferri ^b

^a University Grenoble Alpes, Centre Hospitalier Universitaire de Grenoble Alpes, Département de Chirurgie Reconstructrice, Service de Chirurgie maxillo-faciale et plastique, 38000 Grenoble, France

^b University Lille, CHU Lille, Oral and Maxillo-Facial Surgery Department, F-59000, Lille, France

^⁎ Corresponding author at: Maxillofacial and Plastic Surgery Department, Cleft Competence Center, Grenoble University Hospital, Quai Yermoloff 38700 La Tronche, France. Maxillofacial and Plastic Surgery Department Cleft Competence Center Grenoble University Hospital Quai Yermoloff La Tronche 38700 France

Abstract

Background

Kabuki make-up syndrome (KMS) is a rare genetic disorder characterized by distinctive facial features and multiple congenital anomalies. Although the facial phenotype is central to diagnosis, the spectrum of oral and maxillofacial manifestations has not been comprehensively summarized. The aim of this study was to systematically review the craniofacial, oral, and dental features associated with KMS.

Methods

This systematic review was conducted in accordance with PRISMA guidelines. Searches were conducted in 5 databases supplemented by citation chasing and gray literature, using the terms [“Kabuki syndrome” AND (“maxillofacial” OR “orofacial” OR “craniofacial”)] up to December 2025. All primary studies reporting oral and maxillofacial manifestations in patients with KMS were eligible, including prospective or retrospective cohort studies and case series comprising at least three patients. The robvis tool was employed for critical appraisal of the studies.

Results

Thirty-three articles were included, comprising a total of 424 patients. The most frequently reported craniofacial features were long palpebral fissures (94 %), prominent ears (82 %), and external ear anomalies (76 %). Oculopalpebral anomalies were highly prevalent, including eversion of the lower eyelids (79 %), arched eyebrows (76 %), and sparse or notched lateral eyebrows (77 %). Common nasolabial features included short nasal septum (85 %), depressed nasal tip (80 %), and tented upper lip (60 %). Oral and dental manifestations were also frequent, notably abnormal dentition (58 %), high-arched palate (54 %), and cleft lip and palate (38 %).

Conclusion

KMS is associated with a consistent and recognizable pattern of craniofacial and oral abnormalities. Early identification of these features is essential for timely diagnosis. Multidisciplinary management, including early referral to oral and maxillofacial surgeons, orthodontists, and dental specialists, is recommended to address functional impairments and guide craniofacial development.