Agenesis of the corpus callosum (ACC) is a birth defect in which the structure that connects the two hemispheres of the brain (the corpus callosum) is partially or completely absent. ACC can occur as an isolated condition or in combination with other cerebral abnormalities, including Arnold-Chiari malformation, Dandy-Walker syndrome, Andermann syndrome, schizencephaly (clefts or deep divisions in brain tissue), and holoprosencephaly (failure of the forebrain to divide into lobes.) Girls may have a gender-specific condition called Aicardi's syndrome, which causes severe cognitive impairment and developmental delays, seizures, abnormalities in the vertebra of the spine, and lesions on the retina of the eye. ACC can also be associated with malformations in other parts of the body, such as midline facial defects. The effects of the disorder range from subtle or mild to severe, depending on associated brain abnormalities. Intelligence may be normal with mild compromise of skills requiring matching of visual patterns. But children with the most severe brain malformations may have intellectual impairment, seizures, hydrocephalus, and spasticity.
There is no standard course of treatment for ACC. Treatment usually involves management of symptoms and seizures if they occur.
Prognosis depends on the extent and severity of malformations. ACC does not cause death in the majority of children. Mental retardation does not worsen. Although many children with the disorder have average intelligence and lead normal lives, neuropsychological testing reveals subtle differences in higher cortical function compared to individuals of the same age and education without ACC.
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March of Dimes
Works to improve the health of babies by preventing birth defects and infant mortality through programs of research, community services, education, and advocacy.
National Organization for Rare Disorders (NORD)
Federation of voluntary health organizations dedicated to helping people with rare "orphan" diseases and assisting the organizations that serve them. Committed to the identification, treatment, and cure of rare disorders through programs of education, advocacy, research, and service.
National Organization for Disorders of the Corpus Callosum
This organization works to enhance the quality of life and promote opportunities for individuals with disorders of the corpus callosum and to raise the profile, understanding, and acceptance of these disorders through research, education, advocacy, and networking.
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NINDS Disorders is an index of neurological conditions provided by the National Institute of Neurological Disorders and Stroke (NINDS). This valuable tool offers detailed descriptions, facts on treatment and prognosis, and patient organization contact information for over 250 identified neurological disorders.