What is Ellis Van Creveld Syndrome

Ellis Van Creveld Syndrome (EVC), also known as chondroectodermal dysplasia, is a rare genetic disorder that primarily affects bone and dental development. It is characterized by a combination of skeletal abnormalities, such as short limbs, polydactyly (extra fingers or toes), and abnormal bone growth in the ribs and long bones. Additionally, individuals with EVC may have dental abnormalities, such as missing or misshapen teeth.

EVC is caused by mutations in certain genes involved in embryonic development. These mutations disrupt the normal functioning of proteins, leading to the characteristic features of the syndrome. Inheritance of EVC is autosomal recessive, meaning that both parents must carry a copy of the mutated gene for their child to be affected.

The syndrome is typically diagnosed based on clinical features and confirmed through genetic testing. Treatment for EVC focuses on managing the symptoms and may involve orthopedic interventions, dental care, and regular monitoring of growth and development. Early intervention and a multidisciplinary approach involving various healthcare professionals can help improve the quality of life for individuals with EVC.