Ellis-van Creveld syndrome

Ellis-van Creveld syndrome Ellis-van Creveld syndrome is an autosomal recessive disorder with single atrium as the hallmark cardiovascular defect. Single atrium is sixty percent of the cases. Other cardiac defects like those of mitral and tricuspid valve, patent ductus arteriosus, ventricular septal defect and even hypoplastic left heart syndrome have been described. The affected individuals have short limbs and hence short stature, short ribs, polydactyly and dysplasia of teeth and nails. The syndrome was described by Richard WB Ellis and Simon van Creveld [Ellis RWB and van Creveld S. A syndrome characterized by ectodermal dysplasia, polydactyly, chondro-dysplasia and congenital morbus cordis: report of three cases. Arch Dis Child. 1940;15:65-84]. History tells us that they met on a train on the way to a pediatrics conference in England and each had a patient with this syndrome. Ellis-van Creveld syndrome (EVC) gene is localised to the chromosome 4p16. Two genes – EVC and EVC2 have been involved in mutations. But the clinical features are similar for mutations in both genes. The syndrome can manifest if there is a homozygous or compound heterozygous genotype. Prenatal diagnosis is feasible with ultrasonography [Qureshi F et al. Skeletal histopathology in fetuses with chondroectodermal dysplasia (Ellis-van Creveld syndrome). Am J Med Genet. 1993; 45:471-476]. In postnatal diagnosis, the physical characteristics of short stature, polydactyly and dysplastic nails are use...
Source: Cardiophile MD - Category: Cardiology Authors: Tags: General Cardiology Source Type: blogs