About Ellis Van Creveld Syndrome

What is Ellis Van Creveld Syndrome?

Ellis-van Creveld Syndrome (EvC) is a rare genetic disorder that affects the growth and development of the body. It is characterized by short stature, skeletal abnormalities, and heart defects. It is caused by a mutation in the EVC or EVC2 gene. People with this disorder may also have other health problems, such as vision and hearing loss, learning disabilities, and kidney and liver problems.

What are the symptoms of Ellis Van Creveld Syndrome?

The most common symptoms of Ellis-van Creveld Syndrome include short stature, polydactyly (extra fingers or toes), congenital heart defects, and skeletal abnormalities. Other symptoms may include dental abnormalities, cleft palate, and intellectual disability.

What are the causes of Ellis Van Creveld Syndrome?

Ellis-van Creveld Syndrome (EVC) is a rare genetic disorder caused by a mutation in the EVC or EVC2 gene. The exact cause of the mutation is unknown, but it is believed to be inherited in an autosomal recessive pattern.

What are the treatments for Ellis Van Creveld Syndrome?

The treatments for Ellis Van Creveld Syndrome vary depending on the individual and the severity of the condition. Generally, treatments focus on managing the physical and developmental issues associated with the syndrome. These may include physical therapy, occupational therapy, speech therapy, orthopedic surgery, and/or genetic counseling. Additionally, medications may be prescribed to help manage any associated medical conditions, such as heart defects or seizures.

What are the risk factors for Ellis Van Creveld Syndrome?

The primary risk factor for Ellis-van Creveld Syndrome is having a parent who is a carrier of the gene mutation that causes the disorder. Other risk factors include having a family history of the disorder, being of Amish or Mennonite descent, and being of Dutch or British descent.

Is there a cure/medications for Ellis Van Creveld Syndrome?

There is no cure for Ellis-van Creveld Syndrome, but there are medications that can help manage the symptoms. These include growth hormone therapy, physical therapy, and medications to help with breathing and heart problems.