Which are the causes of Ellis Van Creveld Syndrome?

Ellis Van Creveld Syndrome (EVC), also known as chondroectodermal dysplasia, is a rare genetic disorder that primarily affects the development of bones and teeth. It is an autosomal recessive condition, meaning that both parents must carry a mutated gene for their child to inherit the syndrome.

The causes of Ellis Van Creveld Syndrome can be attributed to mutations in the EVC or EVC2 genes. These genes provide instructions for producing proteins that are involved in the development and maintenance of various tissues in the body. Mutations in these genes disrupt the normal functioning of these proteins, leading to the characteristic features and symptoms of EVC.

Researchers have identified several specific mutations in the EVC and EVC2 genes that are associated with Ellis Van Creveld Syndrome. These mutations can vary in type and location, and their effects on protein function can also differ. However, the exact mechanisms by which these mutations cause the syndrome are not yet fully understood.

One of the key consequences of EVC gene mutations is the impaired development of bones and teeth. Individuals with Ellis Van Creveld Syndrome often have shorter limbs, particularly the forearms and lower legs. They may also have extra fingers or toes, known as polydactyly. Additionally, dental abnormalities such as small teeth, missing teeth, or misshapen teeth are common.

Another important aspect of EVC is its impact on the heart. Many individuals with Ellis Van Creveld Syndrome have congenital heart defects, which are structural abnormalities present at birth. These defects can affect the normal functioning of the heart and may require medical intervention.

In addition to skeletal and cardiac abnormalities, EVC can also affect other parts of the body. Affected individuals may have abnormalities in the nails, hair, and sweat glands. They may experience respiratory problems due to a narrow chest and reduced lung capacity. Some individuals may also have developmental delays or intellectual disabilities, although the severity can vary widely.

It is important to note that while the genetic mutations responsible for Ellis Van Creveld Syndrome are inherited, the syndrome itself is rare. It is more prevalent in certain populations, such as the Amish community, where the frequency of carriers is higher.

In conclusion, Ellis Van Creveld Syndrome is caused by mutations in the EVC or EVC2 genes, which disrupt the normal development of bones, teeth, and other tissues. The specific effects of these mutations can vary, leading to the characteristic features and symptoms of the syndrome. Ongoing research aims to further understand the underlying mechanisms and develop potential treatments for this rare genetic disorder.