How is Wolf-Hirschhorn Syndrome diagnosed?
Wolf-Hirschhorn Syndrome is a rare congenital disorder that affects the development of the brain and spinal cord. It is caused by a mutation in the CHD7 gene. The mutation leads to a problem with the production of a protein called cerebellum-binding protein (CBP). This protein helps to control cerebellar function.
The first sign of Wolf-Hirschhorn Syndrome is usually normal development of motor skills and coordination. However, children with Wolf-Hirschhorn Syndrome often have delays in language, cognitive, and motor development. They may also have problems with movement and balance.
To diagnose Wolf-Hirschhorn Syndrome, your child’s doctor will perform a physical examination and check for signs of cerebellar dysfunction (such as ataxia or incoordination). Your child may also be tested for other genetic disorders that can cause similar symptoms. If your child has Wolf-Hirschhorn Syndrome, his or her doctor may recommend that he or she receive special education and therapy to help him or her learn skills that are affected by the disorder.

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