Dento-Craniofacial Features of Tricho-Dento-Osseous Syndrome: A Systematic Review and Meta-Analysis

Tricho-dento-osseous syndrome (TDOS), a rare autosomal dominant condition caused by mutations in DLX3, is characterized by abnormalities in teeth, bone, and hair. This systematic review and meta-analysis summarized the most frequently reported dento-craniofacial features of TDOS.

Searches were undertaken in five databases supplemented by manual scrutiny and a gray literature search. Observational and descriptive studies were included. Risk of bias was appraised using the Joanna Briggs Institute tools. Meta-analyses of continuous, binary, and proportion data were performed, with results reported as odds ratio (OR) and 95% confidence intervals (CI).

Twenty-seven studies describing 297 individuals with TDOS were included. Most studies demonstrated a low risk of bias. Taurodontism (70.5%), enamel hypoplasia (34.5%), and dental infections (28.7%) were the most prevalent dental findings. Increased bone density/thickness (43.8%) was the primary skeletal manifestation, and sparse hair (27.2%) was the most common hair abnormality. Meta-analyses revealed high odds for taurodontism (OR = 42.71; 95% CI = 7.45-244.75) and consistent prevalence estimates for taurodontism (73%; 95% CI = 0.52-0.97) and enamel hypoplasia (71%; 95% CI = 0.52-0.97).

Data confirm that TDOS predominantly affects dental, skeletal, and hair structures, highlighting the need for early diagnosis, multidisciplinary care, and tailored treatment approaches.