Oral and maxillofacial manifestations associated with Kabuki syndrome: A systematic review.
Alexandra Delay, Florent Barry, Virginie Lafontaine et al.
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In 30 seconds
This PRISMA-guided systematic review summarized craniofacial, oral, and dental findings reported in people with Kabuki syndrome. It included 33 articles covering 424 patients. Frequently reported features included long palpebral fissures (94 %), prominent ears (82 %), and short nasal septum (85 %); oral and dental findings included abnormal dentition (58 %), high-arched palate (54 %), and cleft lip and palate (38 %). The review describes a recognizable pattern of manifestations and concludes that early identification can support timely diagnosis and multidisciplinary care.
Key findings
- Long palpebral fissures were reported in 94 % of patients, prominent ears in 82 %, and external ear anomalies in 76 %.
- Short nasal septum (85 %), depressed nasal tip (80 %), and tented upper lip (60 %) were common nasolabial features.
- Abnormal dentition was reported in 58 %, high-arched palate in 54 %, and cleft lip and palate in 38 %.
Why it matters
The review brings together reported oral and maxillofacial features that may help clinicians recognize the characteristic phenotype of Kabuki syndrome. Awareness of dental and palatal findings alongside facial features may support timely diagnostic assessment and identification of functional concerns requiring coordinated care.
What to keep in mind
The review synthesizes primary studies and case series, so the reported frequencies reflect published reports and may not represent prevalence in all people with Kabuki syndrome.