Case Report of Oculodentodigital Syndrome: A Rare Genetic Disorder, Causing Syndactyly and Dental Pathology

Introduction Oculodentodigital syndrome is a rare autosomal dominant or recessive disorder caused by pathogenic variants in GJA1 gene, which disrupts the synthesis of the protein connexin 43 (Cx43). [1] This genetic disorder is rarely detected, therefore more in-depth studies would improve the care of these patients and ensure a better health status. Patients present with specific facial features, syndactyly, dental pathology, and possible ocular and cardiological pathologies. [2, 3] Case Presentation Our patient is an 8-year-old boy, the first child of a healthy couple. During a dentist consultation mineralization disorders of milk and permanent teeth were observed, and later enamel hypoplasia was diagnosed. He was referred to a geneticist. The patient also was diagnosed with syndactyly in both hands III-V, and feet II-V after birth, and underwent hand syndactyly surgeries. During clinical genetics consultation, it was noticed that the patient has a thin nose with hypoplastic alae nasi and a prominent columella. Whole exome sequencing identified a heterozygous likely pathogenic variant in the GJA1 gene (NM_000165.5(GJA1)) c.646G>T, p.Val216Leu and autosomal dominant oculodentodigital syndrome was confirmed. Discussion While the presenting symptoms of this disorder vary in different sources, common features include syndactyly, tooth enamel changes, and vision problems. [3, 4] Many patients have been described as having undergone surgery for syndactyly in childhood, but genetic testing has only been performed later as individuals began to struggle with different health issues. The literature emphasizes the importance of identifying this syndrome as early as possible, which helps monitor and prevent disease complications. [4] Conclusions Oculodentodigital syndrome is a disease usually characterized by syndactyly and dental pathology, along with various other symptoms that can impact an individual’s life. Identifying this disorder early in life could help monitor their condition and improve management.