Disease Information for Down's Syndrome: Definition

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  • The most frequently occurring mental retardation/multiple anomaly syndrome usually involving more than 100 individual defects; Typical facies with upslanting palpebral fissures is the characteristic feature of this syndrome (hence the offensive designations "mongoloid idiocy" and "mongolism"); A wide range other defects, such as congenital heart diseases, respiratory disorders, and leukemia, may be associated; Down syndrome patients who survive into late adulthood may develop Alzheimer syndrome----------------------------------------------------------------Down Syndrome; Chromosome 21, Mosaic 21 Syndrome;

    Chromosome 21, Translocation 21 Syndrome; Trisomy 21 Syndrome; Trisomy G Syndrome; Down Syndrome is a chromosomal disorder in which all or a portion of chromosome 21 appears three times (trisomy) rather than twice in cells of the body; Symptoms and findings may vary greatly in range and severity, depending on the specific length and location of the duplicated (trisomic) portion of chromosome 21 as well as the percentage of cells containing the abnormality; However, in many affected individuals, such abnormalities may include low muscle tone (hypotonia); a tendency to keep the mouth open with protrusion of the tongue; and distinctive malformations of the head and facial (craniofacial) area, such as a short, small head (microbrachycephaly), upwardly slanting eyelid folds (palpebral fissures), a depressed nasal bridge, a small nose, and a relatively flat facial profile; Individuals with Down Syndrome may also have unusually small, misshapen (dysplastic) ears; a narrow roof of the mouth (palate); vertical skin folds covering the inner corners of the eyes (epicanthal folds); dental abnormalities; and excessive skin on the back of the neck; Abnormalities of the extremities are also often present, such as unusually short arms and legs; short fingers; and unusual skin ridge patterns (dermatoglyphics) on the fingers, palms, and toes; Affected individuals may also have short stature, poor coordination, mild to severe mental retardation, and hearing impairment; In some cases, Down Syndrome may also be characterized by structural malformations of the heart at birth (congenital heart defects); increased susceptibility to respiratory disease ( pneumonia), other infectious diseases, and malignancies including leukemia;

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