COACH syndrome

COACH syndrome is a Mendelian disease that affects development from infancy. It is mainly characterized by features such as infantile ataxia (problems with movement), underdevelopment of the brain’s cerebellar vermis (a part important in coordination), and a slender-shaped skeleton. In addition, people with this condition often have a distinctive facial appearance and may also show moderate intellectual disability.

People with COACH syndrome experience infantile ataxia, which causes problems with balance and coordination. They can also have underdeveloped brain structures, liver fibrosis (scarring of the liver tissue), a slender skeleton, and unique facial features. Moderate intellectual disability is another reported feature. These symptoms help define the condition.

COACH syndrome is a Mendelian disorder. This means that it is caused by changes in genes that are passed from parents to children. The pattern of inheritance contributes to the development of the condition, though specific genes involved have not been detailed in the provided information.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about current research and future directions is currently limited for this condition.