Cranioectodermal dysplasia type 3 ((Sensenbrenner syndrome) 614099: Characterised by skeletal abnormalities including CSS (OMIM). 2 sibs reported by Arts et al 2011: one with scaphocephaly and sagittal CSS, and one without craniofacial features. Short-rib thoracic dysplasia 18 with polydactyly -617866: Duran et al 2017 report 2 fetuses with short rib polydactyly syndrome: one with dolichocephaly and one with poor mineralization of the cranium. Phenotypic overlap with cranioectodermal dyplasia. Amber? Agree (AW) -CSS clearly documented in 1 of 2 in the Arts report, but not in the Duran cases. I tried to find more cases of IFT43 mutations by looking at citations to the Arts paper, but they seem to be rare. So I think amber more appropriate than green at the moment. ; Review on behalf of Tracy Lester and Andrew Wilkie
Created: 5 Mar 2019, 11:33 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Cranioectodermal dysplasia type 3 - 614099; Short-rib thoracic dysplasia 18 with polydactyly -617866
This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: IFT43; Suggested initial gene rating: amber
Created: 5 Mar 2019, 11:21 a.m.
Added phenotypes Short-rib thoracic dysplasia 18 with polydactyly 617866; Cranioectodermal dysplasia type 3 614099 for gene: IFT43
gene: IFT43 was added gene: IFT43 was added to Craniosynostosis. Sources: NHS GMS Mode of inheritance for gene: IFT43 was set to