Short answer · Medically reviewed summary · Last updated: 2023-07-13
Ellis Van Creveld Syndrome (EVC) is a rare genetic disorder characterized by a combination of skeletal abnormalities, short stature, and various congenital heart defects. It is inherited in an autosomal recessive manner, meaning that both parents must carry a copy of the mutated gene for their child to be affected.
What is the prevalence of Ellis Van Creveld Syndrome?
Prevalence of Ellis Van Creveld Syndrome: how many people are affected worldwide, differences by sex and region, with sources.
Ellis Van Creveld Syndrome (EVC) is a rare genetic disorder characterized by a combination of skeletal abnormalities, short stature, and various congenital heart defects. It is inherited in an autosomal recessive manner, meaning that both parents must carry a copy of the mutated gene for their child to be affected. EVC is more prevalent in certain populations, particularly among the Amish and some other isolated communities.
Due to its rarity, the exact prevalence of EVC is not well-documented. However, it is estimated to affect approximately 1 in every 60,000 to 200,000 live births worldwide. The syndrome is more commonly observed in populations with a higher rate of consanguineous marriages, where the chances of inheriting the mutated gene are increased. Early diagnosis and management of EVC are crucial for optimizing the quality of life for affected individuals.
It is important to consult with a healthcare professional or genetic specialist for accurate information and guidance regarding Ellis Van Creveld Syndrome.
