Acrocallosal syndrome
Acrocallosal Syndrome is a rare genetic disorder characterized by agenesis or hypoplasia of the corpus callosum, polydactyly, motor and mental retardation, and distinctive facial features. The syndrome was first described by Schinzel and colleagues in 1979.
Clinical Features[edit | edit source]
The clinical features of Acrocallosal Syndrome can vary greatly among affected individuals. However, some common features include:
- Agenesis or hypoplasia of the corpus callosum: This is a consistent feature of the syndrome. The corpus callosum is a band of nerve fibers that connects the two hemispheres of the brain. In individuals with Acrocallosal Syndrome, this structure is either completely absent or underdeveloped.
- Polydactyly: This refers to the presence of extra fingers or toes. In Acrocallosal Syndrome, postaxial polydactyly (extra digits on the outer side of the hand or foot) is most common.
- Motor and mental retardation: Affected individuals often have significant developmental delays, including delayed motor skills (such as sitting, standing, and walking) and intellectual disability.
- Distinctive facial features: These can include a prominent forehead, widely spaced eyes, a short nose with a broad tip, and a large mouth with a thin upper lip.
Genetics[edit | edit source]
Acrocallosal Syndrome is thought to be an autosomal recessive disorder, which means that an individual must inherit two copies of the defective gene (one from each parent) in order to develop the syndrome. The gene associated with Acrocallosal Syndrome is known as KIF7, which is located on chromosome 15.
Diagnosis[edit | edit source]
Diagnosis of Acrocallosal Syndrome is based on clinical features and can be confirmed by genetic testing. Magnetic resonance imaging (MRI) can be used to detect agenesis or hypoplasia of the corpus callosum.
Treatment[edit | edit source]
There is currently no cure for Acrocallosal Syndrome. Treatment is symptomatic and supportive, and may include physical therapy, special education, and surgeries to correct physical abnormalities such as polydactyly.
See Also[edit | edit source]
NIH genetic and rare disease info[edit source]
Acrocallosal syndrome is a rare disease.
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