Ellis-van creveld syndrome with unusual Genitourinary findings: A case report

Abstract

Ellis-van Creveld syndrome (EVC) also known as Chondroectodermal dysplasia or Mesoectodermal dysplasia, is a chondral and ectodermal dysplasia characterized by short ribs (chondrodystrophy), polydactyly, growth retardation, ectodermal and heart defects. It is a rare disease with approximately 300 cases reported worldwide. After birth, cardinal features are short stature, short ribs, polydactyly, dysplastic fingernails and teeth. Heart defects, especially abnormalities of atrial septation, occur in about 60% of cases. Cognitive and motor development is normal. This rare condition is inherited as an autosomal recessive trait with variable expression. Mutations of the EVC/EVC1 and EVC2 genes, located in a head to head configuration on chromosome 4p16, have been identified as causative. EVC belongs to the short rib-polydactyly group (SRP). The management of EVC is multidisciplinary. Management during the neonatal period is mostly symptomatic, involving treatment of the respiratory distress due to narrow chest and heart failure. Orthopedic follow-up is required to manage the bone deformities. Professional dental care should be considered for management of the oral manifestations. Prognosis is linked to the respiratory difficulties in the first months of life due to thoracic narrowness and possible heart defects. Prognosis of the final body height is difficult to predict.