Characteristic Features of Down Syndrome

Despite the variability in Down syndrome, children with Down syndrome have a widely recognized characteristic appearance. The head may be smaller than normal (microcephaly) and abnormally shaped. Typical facial features include a flattened nose, protruding tongue, and upward slanting eyes. The inner corner of the eyes may have a rounded fold of skin (epicanthal fold) rather than coming to a point. The hands are short and broad with short fingers, and they often have a single crease in the palm. Normal growth and development is usually retarded, and most affected children never reach average adult height.

Heart defects present from birth are often present in people with Down syndrome. Early death is often caused by cardiac abnormalities. Gastrointestinal abnormalities (such as obstruction of the esophagus, called esophageal atresia, and obstruction of the duodenum, called duodenal atresia) are also relatively common. Obstruction of the gastrointestinal tract may require major surgery shortly after birth. Acute lymphocytic leukemia is also more common in children with Down syndrome.