The oral and maxillofacial manifestations of Stickler syndrome: A systematic review

Introduction: Stickler syndrome is a rare genetic collagen disorder known for its ophthalmological abnormalities. However, there are several other associated facial features. The aim of this study is to review the literature on the various oral and maxillofacial manifestations of Stickler syndrome. Methods: This systematic review follow PRISMA guidelines. The search was performed on Pubmed and Web of Science databases, using the following search terms: ["stickler syndrome" AND ("maxillofacial" OR "orofacial" OR "craniofacial")] up to September 2024. All articles describing oral and maxillofacial manifestation in Stickler syndrome were eligible. Results: Fifteen articles with a total of 1037 patients were included. In these 15 studies, 500 patients had Stickler syndrome. The most frequent clinical manifestation found was the Pierre Robin sequence (PRS) (n = 234; 50.4 %). Common manifestations were cleft palate (n = 183; 42.8 %), retrognathia (n = 22; 41.5 %), flat nasal bridge (n = 19; 48.7 %), midface hypoplasia (n = 9; 25.7 %), elongated philtrum (n = 5; 35.7 %), prominent eyes (n = 5; 19.2 %), and high arched palate (n = 3; 11.1 %). Discussion: Stickler syndrome should be investigated in all patients with suggestive symptoms, particularly those with a cleft palate or PRS. Precise diagnosis and early referral to an oral and maxillofacial surgeon and an orthodontist are necessary to manage facial growth and maxillomandibular relationships. (c) 2025 Elsevier Masson SAS. All rights are reserved, including those for text and data mining, AI training, and similar technologies.