Which are the symptoms 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 the gene mutation for a child to be affected. EVC is characterized by a variety of symptoms that can vary in severity from person to person.

Skeletal abnormalities: One of the hallmark features of Ellis Van Creveld Syndrome is the presence of skeletal abnormalities. These can include short stature, particularly in the arms and legs, as well as short fingers and toes. The fingers and toes may also be fused together, a condition known as syndactyly. Additionally, individuals with EVC may have abnormal curvature of the spine, such as scoliosis.

Oral manifestations: Another prominent feature of EVC is the presence of oral manifestations. These can include small teeth, delayed eruption of teeth, and misalignment of teeth. The teeth may also have enamel defects, making them more prone to cavities and other dental issues. Additionally, individuals with EVC may have a cleft lip and/or palate, which can further impact their oral health and speech development.

Heart defects: Some individuals with Ellis Van Creveld Syndrome may have congenital heart defects. These can range from simple abnormalities, such as a small hole in the heart, to more complex structural issues. Heart defects associated with EVC can affect the normal functioning of the heart and may require medical intervention.

Respiratory problems: In severe cases of EVC, individuals may experience respiratory problems. This can be due to the abnormal development of the rib cage, which can restrict lung expansion and lead to breathing difficulties. Respiratory issues can range from mild to severe and may require medical management.

Other features: Additional features of Ellis Van Creveld Syndrome can include nail abnormalities, such as small or missing nails, as well as extra fingers or toes (polydactyly). Some individuals may also have characteristic facial features, including a prominent forehead, a flattened bridge of the nose, and a small jaw. It is important to note that the severity and combination of symptoms can vary widely among individuals with EVC.

While there is no cure for Ellis Van Creveld Syndrome, treatment focuses on managing the symptoms and improving the quality of life for affected individuals. This may involve a multidisciplinary approach, including regular medical check-ups, dental care, orthopedic interventions, and addressing any associated health issues. Early intervention and ongoing support can greatly contribute to the well-being and development of individuals with EVC.