About This Condition
Down syndrome is a genetic abnormality caused by a defect of chromosome 21. People with Down syndrome have varying degrees of cognitive and developmental disabilities and suffer from a wide array of other symptoms, such as premature aging with development of Alzheimer’s disease before the age of 40, short stature and flaccid musculature, frequent infections, autoimmune disease, hypothyroidism, leukemia, and heart defects.1
Down syndrome is the most common genetic disorder, occurring at a rate of about one in 700 to 800 births.2
Newborns with Down syndrome may be lethargic, rarely cry, and have extra skin around the neck. Children and adults with Down syndrome may have slanted eyes, flattened nose, large tongue, small ears, short fingers, and broad hands, and may have difficulty performing routine activities of daily life.
Treatment consists of management of medical conditions associated with this syndrome, such as thyroid deficiency, cardiac malformations, hearing loss, and difficulties with vision.