It is a rare genetic disorder characterized by short limb dwarfism, polydactyly of the hands and feet, abnormal development of fingernails and, in more than 50% congenital heart defects. The most common heart defect include atrial septal defect, ventricular septal defect, and patent ductus arteriosus. Urogenital anomalies have also been reported in males only, particularly cryptorchidism and epispadias, but are not considered characteristics of this medical condition. Motor development and intelligence are normal.
Chondroectodermal Dysplasia; Mesoectodermal Dysplasia Syndrome.
Genetic skeletal dysplasia was first described by Richard W. B. Ellis (1902-1966) from Edinburgh and Simon van Creveld (1895-1971) from Amsterdam in 1940. An anecdote of uncertain veracity, however, suggests that the Ellis-van Creveld Syndrome was named after Ellis and van Creveld who met fortuitously in a railway carriage while traveling to a medical congress. During the course of their voyage, the conversation led both to realize that they were contemplating a publication of an account of the same disorder. They agreed to publish a joint description of the condition that now bears their names, Ellis being accorded priority for the sake of euphony and by virtue of his alphabetical precedence. Together with ☞Jeune Syndrome, it is grouped into the nonlethal Short-Ribpolydactyly Syndromes.
Approximately 150 cases have been described in the literature. No sexual predilection has been reported. It is an inherited form of short-limbed dwarfism often seen among the Old Order Amish community in Lancaster County, Pennsylvania (USA) and in the native population of Western Australia.
Autosomal recessive with linkage of the Ellis-van Creveld (EVC) phenotype to genetic markers on the short arm of chromosome 4p16. The mutations are called EVC and EVC2.
Unknown; however, the cartilage of long bones and vertebrae of fetuses with EVC Syndrome shows disorganization of the chondrocytes in the physeal growth zone and delayed development of the short columellar arrangements in the physis.
Dwarfism with profound shortening of the distal parts of the extremities (mesomelic shortening), already identifiable at birth. Skeletal histopathology via fetoscopy and ultrasound can be used for prenatal diagnosis.
Features may include micrognathia, polydactyly, and abnormalities of the ectoderm (onychodystrophy, anomalies in the upper lip variously called “partial hare lip” or “lip tie,” and cleft lip/palate), and dysodontiasis (congenital teeth, partial anodontia, malpositioned teeth). Of particular importance are presence of cardiac malformations in more than 50% of affected patients (commonly a atrial or ventricular septal defect, single atrium or patent ductus arteriosus). Respiratory distress is frequent in neonates as a result of hypoplastic lungs within a narrow dysplastic thorax with extremely short ribs. Hypoplasia of the tracheobronchial cartilage tends to result in collapse of the ...