It is characterized by severe mental retardation along with brain and eye defects. Other abnormalities may include cleft lip or palate, heart and genitourinary defects, and malformed ears. The remainder of this protocol will focus on a discussion of Down syndrome. Characteristics and Diagnosis Infants with Down syndrome are usually quiet, cry infrequently, and have poor muscle tone. Physical features include a small head, a broad flattened face, slanting eyes, and a short nose.
Ears are small and set low on the head, and the tongue is large and often prominent.
Hands and fingers are short with a single crease across the palm. The fifth finger in many instances has two rather than three sections and curves inward. About one-third of all children with DS have heart defects. Screening for DS is usually recommended for pregnant women over the age of 35. A diagnosis can often be made before birth by testing for low levels of alpha-fetoprotein in the mother's blood.