Orthodontics & Craniofacial Research · 3 authors, 2 centres
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This Finnish register-based study found the prevalence of craniofacial microsomia (CFM) to be 1:10,057 live births. While most specialized healthcare visits were for plastic surgery (60% of patients) and dental/oral/maxillofacial care (41%), a substantial need for psychiatric support was observed across all age groups (21% of children, 14% of adolescents/adults). The findings highlight that CFM requires multidisciplinary care extending well beyond structural correction.
**Background:** Craniofacial microsomia (CFM) is the second most common congenital facial deformity after cleft lip/palate, characterized by underdevelopment of the mandible, maxilla, ear, orbit, facial soft tissue, and facial nerve. Prevalence estimates range from 1:3,500 to 1:45,000. The aetiology is unclear but involves genetic and environmental factors. This study aimed to analyze the prevalence and distribution of CFM cases in Finland, their most frequent comorbidities, and patients' need for specialized healthcare services.
**Methods:** This register study used data from two complementary Finnish registers: the Register of Congenital Malformations and the Care Register for Health Care (HILMO) of the Finnish Institute for Health and Welfare (THL). Data covered 156 live-birth CFM patients born between 1988 and 2013. Patients' health records were collected between 1996 and 2013, including demographic data, ICD-10 diagnosis codes, and visits to specialized medical care (and since 2011, primary health care visits). The distribution of ICD-10 diagnosis codes was examined across nine specialties: adolescent psychiatry, adult psychiatry, plastic surgery, child psychiatry, clinical genetics, dental/oral/maxillofacial diseases, clinical dental care, orthodontics, and oral and maxillofacial surgery. Gender differences and distributions between hospital districts were analyzed with the Kruskal-Wallis test.
**Key Results:** The prevalence of CFM in Finland was 1:10,057 live births (156 cases among 1,568,913 live births). No statistically significant gender differences were found (78 male, 78 female), and cases were evenly distributed across the five university hospital districts. The most frequently used ICD-10 diagnosis codes by specialty were: F40-48 (Neurotic, stress-related and somatoform disorders) in 60% of adolescent and adult psychiatry patients; Q67.0 (Facial asymmetry) in 43% of plastic surgery patients; Z00.4 (General psychiatric examination) in 31% of child psychiatry patients; Z31.5 (Genetic counselling) in 28% of clinical genetics patients; and Q67.40 (Hemifacial atrophy) in 18% of dental/oral/maxillofacial patients. Of all patients, 70% had visits to clinical genetics, 60% to plastic surgery, 41% to dental/oral/maxillofacial diseases, 28% to adolescent/adult psychiatry, and 21% to child psychiatry. The majority of plastic surgery visits were concentrated in one university hospital, while other services were mainly provided by patients' own hospital districts. The mean number of visits per patient was 12.5 for plastic surgery (range 1-63), 17.3 for dental/oral/maxillofacial diseases (range 1-91), 21.8 for adolescent psychiatry (range 2-83), and 15.4 for child psychiatry (range 1-114).
**Clinical Implications:** This study demonstrates that CFM requires multidisciplinary care extending well beyond structural correction. The substantial psychiatric burden—21% of children and 14% of adolescents/adults needing psychiatric support, compared to approximately 7% of Finnish children/adolescents in the general population—highlights the need for early psychosocial support. The authors note that only slightly more than half of children under 18 had genetic counselling visits, suggesting this service may be underutilized. The concentration of plastic surgery at one university hospital indicates centralization of complex surgical care, while other services are distributed regionally. The study's strengths include nationwide coverage over 25 years, but limitations include missing ICD-10 codes (especially before 1996), variation in recording practices, and potential underestimation of psychiatric visits occurring in primary care. The authors conclude that the actual need for various treatments likely exceeds the numbers presented.