Ellis-van Creveld syndrome is an autosomal recessive skeletal dysplasia characterized by short limbs, short ribs, postaxial polydactyly, and dysplastic nails and teeth. Congenital cardiac defects, most commonly a defect of primary atrial septation producing a common atrium, occur in 60% of affected individuals
Ellis-van Creveld syndrome is caused by homozygous or compound heterozygous mutation in the EVC gene (604831) on chromosome 4p16. Ellis-van Creveld syndrome can also be caused by mutation in a nonhomologous gene, EVC2 (607261), located close to the EVC gene in a head-to-head configuration.
