Related Experiment Video
Updated: May 16, 2026
10:23
Three-Dimensional Cephalometric Landmark Annotation Demonstration on Human Cone Beam Computed Tomography Scans
Published on: September 8, 2023
IFT43-Related Cranioectodermal Dysplasia Type 3: Clinical and Molecular Insights from the First Reported Turkish
Sinem Kocagil1, Hilal Gölcür1, Sabri Aynacı1
1Eskişehir Osmangazi University, Faculty of Medicine, Department of Medical Genetics, Eskişehir, Türkiye.
Molecular Syndromology
|May 15, 2026
Summary
Cranioectodermal dysplasia type 3 (CED3) is a rare ciliopathy. This report details the third diagnosed patient with CED3, identified through whole-exome sequencing, expanding knowledge of this rare genetic disorder.
Area of Science:
- Genetics
- Rare Diseases
- Ciliopathies
Background:
- Cranioectodermal dysplasias (CEDs) are rare, autosomal recessive ciliopathies.
- CEDs present with craniofacial, skeletal, and ectodermal anomalies, growth retardation, and renal issues.
- IFT43-associated CED type 3 is an exceptionally rare subtype.
Purpose of the Study:
- To report the third case of IFT43-associated CED type 3.
- To describe the clinical presentation and 7-year follow-up of a patient with CED type 3.
- To contribute to understanding genotype-phenotype correlations in this rare ciliopathy.
Main Methods:
- Clinical case presentation and follow-up.
- Whole-exome sequencing (WES) for genetic analysis.
- Identification of compound heterozygous pathogenic variants in the IFT43 gene.
Main Results:
- The patient exhibited typical CED type 3 features: postaxial polydactyly, dolichocephaly, frontal bossing, and ectodermal abnormalities.
- Normal neurological development was observed.
- Compound heterozygous variants (c.55-1G>A and c.175C>T) in IFT43 were identified.
Conclusions:
- This case adds to the limited reported instances of IFT43-related CED type 3.
- The findings enhance the understanding of this rare ciliopathy.
- Further research is needed for precise clinical characterization and genotype-phenotype insights.
