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. Other features may include extra fingers or toes, dental problems, and learning disabilities. It is caused by a mutation in the EVC or EVC2 gene.

The most common symptoms of Ellis-van Creveld Syndrome include short stature, skeletal abnormalities, heart defects, and dental problems. Other symptoms may include webbed fingers and toes, extra fingers and toes, cleft lip and/or palate, and intellectual disability.

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.

The treatments for Ellis-van Creveld Syndrome vary depending on the individual and the severity of the condition. Generally, treatments focus on managing the symptoms and complications associated with the condition. These may include physical therapy, occupational therapy, speech therapy, orthopedic surgery, and medications to manage pain, seizures, and other symptoms. Additionally, genetic counseling may be recommended for families affected by Ellis-van Creveld Syndrome.

1. Ellis-van Creveld Syndrome is an autosomal recessive genetic disorder, so the primary risk factor is having a family history of the disorder.

2. Being of Amish or Mennonite descent is also a risk factor, as the disorder is more common in these populations.

3. Having a parent with a balanced chromosomal translocation involving chromosome 4 is also a risk factor.

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.