Acrocallosal Syndrome, Schinzel Type (ACLS) is a rare condition characterized by a brain abnormality called agenesis of the corpus callosum, the presence of extra fingers and toes (polydactyly), and distinctive facial features. The signs and symptoms of this disorder are present at birth, and their severity varies widely among affected individuals. The changes in brain structure associated with this condition lead to delayed development and intellectual disability, which is most often moderate to severe. Some affected individuals also experience seizures. Extra fingers and toes are common in people with acrocallosal syndrome. Some affected individuals also have webbed or fused skin between the fingers or toes. Distinctive facial features that can occur with acrocallosal syndrome include widely spaced eyes (hypertelorism) and a high, prominent forehead. Many affected individuals also have an unusually large head size (macrocephaly). The diagnosis is usually made or confirmed at birth based upon a thorough clinical examination, identification of characteristic physical findings, and various specialized tests. The treatment of acrocallosal syndrome, Schinzel type is directed toward the specific symptoms that are apparent in each individual. Early intervention may be important to ensure that children with the disorder reach their potential. Special services that may be beneficial include special education, physical therapy, and/or other medical, social, or vocational services.
Description Last Updated: Oct 29, 2020