By Stacey Blachford

ISBN-10: 0787656127

ISBN-13: 9780787656126

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Additional resources for Gale Encyclopedia of Genetic Disorders, Two Volume Set. A-L

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This is accompanied by skull and facial malformations, and some degree of finger or toe malformations. Individuals may display motor and mental retardation. The cause of this genetic disorder is unknown, and the severity of the symptoms vary by individual. GALE ENCYCLOPEDIA OF GENETIC DISORDERS Acrocallosal syndrome was first described by Schinzel in 1979, and also may be referred to as Schinzel acrocallosal syndrome. The term acrocallosal refers to the involvement of the acra (fingers and toes) and the corpus callosum, the thick band of fibers joining the hemispheres of the brain.

Its striking consequence of excessive height has caused it to remain a fascinating disease among both scientists, doctors, and the public. Besides causing great height and unusual facial features, it is now known that acromegaly also causes serious conditions that can be life threatening, such as heart disease, respiratory disease, arthritis, neuromuscular problems, and diabetes. With early detection and treatment, the consequences of acromegaly can be minimized and patients afflicted with the condition can lead mainly healthy, productive lives.

These include a smaller spinal canal and a small foramen magnum. The foramen magnum is the opening at the base of the skull. The spinal cord runs from the spinal canal through the foramen magnum and connects with the brain. The diagnosis of achondroplasia can also be made prenatally either by ultrasound (sonogram) or by prenatal DNA testing. Sonograms use sound waves to provide an image of a fetus. The physical findings of achondroplasia (shortened long bones, trident hand) can be detected in the third trimester (last three months) of a pregnancy.

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Gale Encyclopedia of Genetic Disorders, Two Volume Set. A-L by Stacey Blachford

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