Acrocallosal syndrome
Acrocallosal Syndrome
Acrocallosal syndrome (pronounced: ak-ro-ka-lo-sal sin-drome) is a rare genetic disorder that primarily affects the development of the brain and the limbs.
Etymology
The term "Acrocallosal" is derived from the Greek words "akron" meaning extremity, "kallos" meaning beauty, and "syndrome" meaning running together. The term refers to the combination of symptoms that run together in this disorder, particularly those affecting the extremities (limbs) and the corpus callosum (part of the brain).
Symptoms
The symptoms of Acrocallosal syndrome can vary greatly among affected individuals. However, common symptoms include agenesis or hypoplasia of the corpus callosum, polydactyly (extra fingers or toes), mental retardation, and distinctive facial features such as a broad forehead, widely spaced eyes, and a short nose with a broad tip.
Causes
Acrocallosal syndrome is caused by mutations in the KIF7 gene. This gene provides instructions for making a protein that is involved in the formation and maintenance of cilia, which are small, finger-like projections on the surface of cells. Mutations in the KIF7 gene disrupt the normal function of cilia, leading to the various symptoms of Acrocallosal syndrome.
Diagnosis
Diagnosis of Acrocallosal syndrome is based on a clinical examination, the presence of characteristic symptoms, and confirmed by genetic testing to identify mutations in the KIF7 gene.
Treatment
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.
See also
External links
- Medical encyclopedia article on Acrocallosal syndrome
- Wikipedia's article - Acrocallosal syndrome
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