What Is Ellis-Van Creveld Syndrome?

Ellis-van Creveld Syndrome (EVC), also known as chondroectodermal dysplasia, is a rare genetic disease and one of the types of skeletal dysplasia.

Ellie's syndrome

About Ellie's syndrome

Ellis-van Creveld Syndrome (EVC), also known as chondroectodermal dysplasia, is a rare genetic disease and one of the types of skeletal dysplasia.

- Ellie's Syndrome Ellie's Syndrome-Symptoms

This disease can cause many abnormal symptoms, including the following:

Post-axial polydactyly.

Congenital heart defects are usually atrial septal defects.

Pre-natal tooth eruption.

Nail malnutrition and stunting.

Short-limbed dwarfism, adults are about 106 cm to 153 cm tall.

Short ribs.

Partial hare-lip.

The deformity of the wrist bone is caused by the fusion of the hamate and the capitate.

- Ellie's Syndrome Ellie's Syndrome-Genetics

Ellie's syndrome is a recessive inheritance of somatic chromosomes, and the disease-causing gene is located on the short arm of chromosome 4. The disease is caused by mutations in the EVC gene (named after the disease), and the use of normal EVC genes is unknown.

When both parents (father and mother) carry a mutant gene, their offspring have a one in four chance of contracting the disease, regardless of gender. When one of the parents does not carry the mutant gene, their offspring will not have the disease.

This disease is also a typical example of the founder's effect, which occurs in isolated or small numbers of biological populations. Although people with Ellerweiss Syndrome are fairly rare among the entire human population, they tend to occur in populations that lack genetic variation. For example, the Amish people in Pennsylvania, or residents of some small islands.

- Ellie's Syndrome Ellie's Syndrome-History

The earliest people to describe this disease were Richard WB Ellis (1902-1966) in Edinburgh and Simon van Creveld (1895-1971) in Amsterdam. It was in the late 1930s and they were travelling by train to a pediatric conference in England. When they met on the train, they found that their patients had the same symptoms. The third case appeared in textbooks written by L. Emmett Holt (Jr.) and Rustin McIntosh. Later led by McKusick, known for establishing MIM, a group of scientists conducted a study that looked at the long-standing family lineage of the Amish ethnic group. They published their findings in 1964.

- Ellie's Syndrome Ellie's Syndrome-Nomenclature

Left foot with multiple toe deformity

Right hand with central polydactyly

The disease would also be called "Six-fingered dwarfism", a name that makes it easier for non-professionals to understand this rare disease. But later such names offended certain ethnic groups, not because of the word "dwarf", but because "six fingers" were labeled "weird". The most common name for the disease later became "Ellis-van Creveld syndrome" and the abbreviation EVC. The other two names, "Chondroectodermal dysplasia" and "Mesoectodermal dysplasia", are less commonly used.