Acrocallosal Syndrome News and Information
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Latest Acrocallosal Syndrome News
Acrocallosal syndrome is a very rare autosomal recessive syndrome characterized by corpus callosum agenesis, polydactyly, multiple dysmorphic features, motor and mental retardation, and other symptoms.
The disorder is typically characterized by underdevelopment (hypoplasia) or absence of the thick band of nerve fibers joining the two hemispheres of the brain and moderate to severe mental retardation. Persons with this condition may also have malformations of the skull and facial (craniofacial) region and/or distinctive abnormalities of the fingers and toes (digits). Additional physical abnormalities may also be present, including growth retardation, resulting in short stature. Although autosomal recessive inheritance has been suggested, acrocallosal syndrome often appears to occur randomly.