Akademik Veri Yönetim Sistemi
Molecular Syndromology, 2026 (SCI-Expanded, Scopus)
Introduction: Cranioectodermal dysplasias (CEDs) are clinically and genetically heterogenous group of rare autosomal recessive ciliopathies characterized by craniofacial dysmorphism, skeletal and ectodermal anomalies, growth retardation, and renal involvement. To date, approximately 100 affected individuals have been reported in the literature and IFT43-associated CED type 3 is one of the rarest subtypes. Case Presentation: We report the third patient diagnosed with CED type 3, presenting with typical features of the disorder, including postaxial polydactyly, dolichocephaly, frontal bossing, and ectodermal abnormalities, along with normal neurological development, and follow-up findings over a 7-year period. Whole-exome sequencing revealed compound heterozygous pathogenic variants in the IFT43 gene NM_001102564.3:c.55-1G>A and NM_001102564.3:c.175C>T (p.Arg59*). Conclusion: We believe this patient contributes to the limited number of reported IFT43-related CED type 3 cases and expands our knowledge of this rare ciliopathy. Further research is required to more precisely characterize the clinical presentation and to better understand genotype-phenotype associations.