IFT43-related cranioectodermal dysplasia type 3: Clinical and molecular insights from the first reported Turkish patient

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 cases have been reported in the literature and IFT43 associated CED type 3 is one of the rarest subtypes. Case Report 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 NM₀01102564. 3: c. 55-1G>A and NM₀01102564. 3: c. 175C>T (p. Arg59*). Discussion We believe this case 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.