Excerpt from Ellis-van Creveld Syndrome

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Background

Richard W.B. Ellis of Edinburgh and Simon van Creveld of Amsterdam first described Ellis–van Creveld (EVC) syndrome. They met in a train compartment while traveling to a pediatrics conference in England in the late 1930s and discovered that each had a patient with the syndrome. In 1940, Ellis and van Creveld formally described the syndrome that would bear their names, although they termed it chondroectodermal dysplasia. Disproportionate dwarfism, postaxial polydactyly, ectodermal dysplasia, a small chest, and a high frequency of congenital heart defects characterize this autosomal recessive syndrome, which has increased incidence among persons of Old Order Amish descent.

Pathophysiology

Pathophysiology is unknown; however, recent identification of the EVC gene should lead to a better understanding. Histopathologic examination of fetuses with Ellis–van Creveld syndrome revealed that the cartilage of long bones showed chondrocyte disorganization in the physeal growth zone. Variable chondrocyte disorganization was seen in the central physeal growth zone of the vertebrae.

Frequency

United States

In the general population, the frequency is 1 case per 60,000 live births. Among persons from the Old Order Amish, the incidence is estimated at 5 cases per 1000 live births. The frequency of carriers in this population may be as high as 13%.

Mortality/Morbidity

Thoracic dysplasia leads to respiratory insufficiency and cardiac anomalies lead to death in infancy in 50% of patients. Patients who survive infancy have a normal life expectancy.

Race

The highest frequency of Ellis–van Creveld syndrome is seen in one particular inbred population, the Old Order Amish community in Lancaster County, Pennsylvania, where the largest pedigree has been described (52 cases in 30 sibships).¹ Among the Amish, the abnormal gene can be traced to the immigrants Samuel King and his wife, whose identity is not known. No other ethnic group has a high incidence of Ellis–van Creveld syndrome.

Sex

Frequency of Ellis–van Creveld syndrome is equal in males and females.

Age

In patients with Ellis–van Creveld syndrome, physical findings, such as disproportionate extremities, small stature, polydactyly, cardiac defects, and minor dysmorphic features, are seen at birth.

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