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Wolf-Hirschhorn Syndrome_1

Wolf-Hirschhorn syndrome is a genetic disorder of which 87% of cases are not inherited. The condition is more prevalent in females and occurs in about 1 in 50,000 births. The disorder affects fetal growth and development resulting in symptoms such as distinctive facial features, prominent forehead, wide set eyes, broad beaked nose, profound mental retardation, small head, seizures in 50% of cases, low muscle tone, poor muscle development, short stature, facial deformities, malformations of hands, feet, chest and spine, heart defects, malformations of sexual organs and underdevelopment of sexual organs. Diagnosis is via in utero ultrasound or by physical appearance on birth followed by x-rays, renal ultrasonography and MRI. The condition is treated by addressing the symptoms.

Source: summary of medical news story as reported by About

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About: Wolf-Hirschhorn Syndrome_1

Date: 18 January 2005

Source: About

Author: Mary Kugler

URL: http://rarediseases.about.com/cs/chromosome345/a/042404.htm

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