Van den Bosch syndrome is a rare genetic disorder characterized by a combination of physical and mental abnormalities. It is caused by a mutation in the gene encoding the enzyme dihydropyrimidine dehydrogenase (DPD). Symptoms of the disorder include intellectual disability, seizures, hypotonia, facial dysmorphism, and skeletal abnormalities.

The symptoms of Van den Bosch syndrome vary from person to person, but may include:

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

Van den Bosch syndrome is a rare genetic disorder caused by a mutation in the SLC25A24 gene. This gene is responsible for the production of a protein called thiamine transporter 2 (THTR2). This protein is responsible for transporting thiamine (vitamin B1) into cells. When the SLC25A24 gene is mutated, the THTR2 protein is not produced, leading to a deficiency of thiamine in the body. This deficiency can cause a variety of symptoms, including intellectual disability, seizures, vision and hearing problems, and movement disorders.

The treatment for Van den Bosch syndrome is largely supportive and symptomatic. Treatment may include physical therapy, occupational therapy, speech therapy, and nutritional support. Medications may be prescribed to help manage seizures, muscle spasms, and other symptoms. Surgery may be recommended to correct any physical deformities or to help improve mobility. In some cases, orthopedic braces may be used to help improve posture and mobility.

The primary risk factor for Van den Bosch syndrome is having a parent who carries a mutation in the SLC25A24 gene. Other risk factors include having a family history of the disorder, being of Dutch descent, and being a male.

At this time, there is no known cure for Van den Bosch syndrome. Treatment focuses on managing the symptoms and complications associated with the condition. Medications may be prescribed to help manage seizures, muscle spasms, and other symptoms. Physical and occupational therapy may also be recommended to help improve mobility and strength.