Orthodontic and Maxillofacial Surgery Treatment in Achondroplasia for Orofacial Alterations: A Systematic Review and Preliminary Age-Stratified Guidelines

Abstract

This systematic review aimed to collect and appraise the clinical outcomes of all orthopaedic, orthodontic and surgical interventions in ACH patients. Following PROSPERO protocol, multiple database sources were searched to December 2024 with no language restrictions for (i) genetically confirmed ACH; (ii) any orthodontic/orthopaedic/orthognathic treatment. Two reviewers independently screened, extracted data and applied Joanna Briggs Institute appraisal tools. Results were synthesised to collect the evidence and provide available guidelines. Thirteen studies met the criteria (11 case reports, 2 case series) comprising 16 treated individuals (3–23 y.o). Five patients aged 10–16 years achieved stable correction with orthopaedic treatment followed by fixed appliances, without extractions or surgery at ≥ 24-month follow-up. Eight post-growth patients (> 16 years) required either extractions (n = 4) or maxillofacial surgery (n = 5) to attain satisfactory occlusion; long-term stability was documented in only two. Two preschool children underwent mid-face distraction and were successfully decannulated. Risk-of-bias was generally moderate. Early orthopaedic-orthodontic protocols (≤ 16 years) corrected transverse and sagittal discrepancies in ACH, whereas combined orthodontic–surgical approaches were usually indispensable after growth completion. Future prospective are essential to strengthen the evidence base age-stratified guidelines.

PROSPERO registration number: CRD42024582720