Fragile X Syndrome: Systemic and Craniofacial Characteristics
DOI:
https://doi.org/10.22370/asd.2025.6.2.4355Keywords:
Fragile X syndrome, FMR1 gene, Orthodontics, Treatment outcomeAbstract
Background: Fragile X syndrome (FXS) is an X-linked disorder caused by a mutation in the FMR1 gene. It has a prevalence of 1/4000 in males and 1/8000 in females. This syndrome is associated with medical problems, intellectual disability, and language deficits. The craniofacial characteristics include a long and narrow face, prominent forehead, ears, and jaw. Despite its high prevalence, it remains poorly understood within the dental field. Objective: Describe the craniofacial, dental, and functional characteristics of patients with FXS through an exploratory literature review. Material and Methods: An electronic search was conducted in the databases of PubMed, Elsevier, Scielo, and Cochrane. The terms used were (("fragile x syndrome") AND (("characteristics") OR ("dentistry") OR ("dental") OR ("orthodontic") OR ("systemic characteristics"))); ("fragile X syndrome") AND ("dentistry"); "fragile X syndrome" AND (("characteristics"); and "fragile X syndrome". Results: The initial search generated 303 articles, and after the selection process, 18 studies were included as part of the review. Conclusion: Patients with FXS present systemic, craniofacial, and cognitive characteristics that affect their oral health and function. Further studies associated with orthodontic and oral functional areas are suggested, as the literature is limited.
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