Ellis Van Creveld syndrome

Ellis-van Creveld syndrome (EVC syndrome), also known as chondroectodermal dysplasia or mesoectodermal dysplasia, is a rare genetic skeletal disorder characterized by a combination of short-limb dwarfism, polydactyly, ectodermal dysplasia, and congenital heart defects. The condition is present at birth and affects multiple body systems including the skeletal system, heart, teeth, nails, and hair. It was first described by Richard Ellis and Simon van Creveld in 1940 and is notably more prevalent in the Old Order Amish population of Lancaster County, Pennsylvania, due to a founder effect. The hallmark skeletal features include disproportionate short stature with progressive shortening of the limbs from proximal to distal segments (acromesomelic shortening), postaxial polydactyly (extra fingers on the pinky side of the hand), and a narrow thorax with short ribs. Ectodermal abnormalities include small, dysplastic nails, sparse or fine hair, and dental anomalies such as natal teeth, delayed eruption, small teeth, and partial anodontia. A distinctive oral finding is the presence of multiple frenula or a fusion of the upper lip to the gum (lip tie), obliterating the upper labial sulcus. Approximately 50–60% of affected individuals have congenital heart defects, most commonly a single atrium or large atrial septal defect, which is the primary determinant of prognosis and can be life-threatening in infancy. Ellis-van Creveld syndrome is caused by pathogenic variants in the EVC or EVC2 (also called LIMBIN) genes located on chromosome 4p16, which encode proteins involved in Hedgehog signaling and are essential for normal skeletal and cardiac development. There is no cure for the condition, and management is multidisciplinary and supportive. Treatment may include surgical correction of congenital heart defects, orthopedic interventions for skeletal abnormalities including polydactyly removal, dental care for the ectodermal manifestations, and monitoring of respiratory function in infants with a narrow thorax. With appropriate cardiac management, many individuals survive into adulthood, though adult height is typically reduced, ranging from approximately 109 to 155 cm.

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