Proud syndrome

Disease Overview

Proud syndrome is a rare neurological condition that is primarily characterized by severe intellectual disability, agenesis of the corpus callosum, seizures, and spasticity. It usually occurs in males; when it occurs in females, the signs and symptoms are often less severe. Proud syndrome is caused by changes (mutations) in the ARX gene and is inherited in an X-linked recessive manner. Treatment is based on the signs and symptoms present in each person.[9214][9215]

Synonyms

• New X-linked syndrome with seizures, acquired micrencephaly, and agenesis of the corpus callosum
• Corpus callosum, agenesis of, with abnormal genitalia
• ACC with abnormal genitalia
• Proud Levine Carpenter syndrome