Von Voss-Cherstvoy syndrome is a rare genetic disorder characterized by a combination of physical and mental disabilities. It is caused by a mutation in the gene that codes for the enzyme dihydropyrimidine dehydrogenase (DPD). Symptoms of the disorder include intellectual disability, seizures, delayed development, and movement and coordination problems.

The symptoms of Von Voss-Cherstvoy syndrome vary from person to person, but may include:

-Developmental delays
-Intellectual disability
-Seizures
-Movement disorders
-Feeding difficulties
-Growth delays
-Hearing loss
-Vision problems
-Heart defects
-Kidney abnormalities
-Abnormalities of the hands and feet
-Skin abnormalities
-Gastrointestinal problems
-Behavioral issues

Von Voss-Cherstvoy syndrome is a rare genetic disorder caused by a mutation in the gene that codes for the protein dystrophin. This mutation results in a lack of dystrophin, which is a protein that helps to maintain the structure and function of muscle cells. The exact cause of the mutation is unknown, but it is believed to be inherited in an autosomal recessive pattern.

The treatments for Von Voss-Cherstvoy syndrome vary depending on the individual and the severity of the condition. Generally, treatment focuses on managing the symptoms and improving quality of life. This may include physical therapy, occupational therapy, speech therapy, and medications to help with muscle spasms, seizures, and other symptoms. Surgery may be recommended in some cases to help improve mobility and reduce pain. Additionally, supportive care such as nutritional counseling, psychological counseling, and social support can be beneficial.

The exact cause of Von Voss-Cherstvoy syndrome is unknown, but it is believed to be caused by a genetic mutation. Risk factors for Von Voss-Cherstvoy syndrome include a family history of the disorder, being of Ashkenazi Jewish descent, and having a parent with a balanced chromosomal translocation.

At this time, there is no known cure or medications for Von Voss-Cherstvoy syndrome. Treatment is focused on managing the symptoms and providing supportive care. This may include physical therapy, occupational therapy, speech therapy, and other interventions to help improve quality of life.