IllnessEllis-van-Creveld syndrome, differential diagnosis

NGS +

Ellis van Creveld syndrome is an autosomal recessively inherited disorder of bone growth that results in short stature with particularly short forearms and lower legs, a narrow chest with short ribs as well as polydactyly, malformed nails and dental anomalies. More than half of those affected are born with heart defects that can cause severe health problems. The features of Ellis-van Creveld syndrome overlap with those of the milder condition called Weyers acrofacial dysostosis. As in Ellis-van Creveld syndrome, abnormalities of teeth and nails occur in acrofacial dysostosis, although affected individuals have less pronounced short stature and most do not have heart defects. Both disorders are caused by mutations in the same genes, either EVC or EVC2. Mutations in these two genes together account for more than half of all cases of Ellis-van Creveld syndrome. In the remaining cases, the cause is unknown; thus a negative molecular genetic result excludes by no means the clinical diagnosis. The differential diagnosis should consider gene mutations that cause asphyxiating thoracic dysplasia/short rib thoracic dysplasia, including those associated with certain forms of cranioectodermal dysplasia and polydactyly.

Reference: https://www.ncbi.nlm.nih.gov/books/NBK154653/

• Alias: Acrodental dysostosis of Weyers (EVC, EVC2)
• Alias: Curry-Hall syndrome (EVC, EVC2)
• Alias: Weyers acrofacial dysostosis (EVC, EVC2)
• DD: Short-rib thoracic dysplasia 1-20
• DD: asphyxiating thoracic dysplasia
• Chondroectodermal dysplasia (EVC, EVC2)
• Cranioectodermal dysplasia 2 (WDR35)
• Mesoectodermal dysplasia (EVC, EVC2)
• Polydactyly, postaxial, type A8 (GLI1)
• Polydactyly, preaxial I (GLI1)
• Short-rib thoracic dysplasia 7 with/-out polydactyly (WDR35)