Down Syndrome: Symptoms & Diagnosis

Down syndrome is often diagnosed in vitro by using a test such as amniocentesis, in which a needle inserted through the mother’s stomach to take a small sample of the cilial lining of her womb, which contains cells from the baby but do not affect the baby. These cells are tested for a variety of things, including an extra chromosome 21. Tests are being developed allowing mothers to be tested earlier and earlier for Down syndrome.

If the mother is not tested, Down syndrome is usually diagnosed after the baby’s birth by its physical appearance. Though a diagnosis of Down syndrome is hard on a family, the earlier it’s diagnosed, the more easily a family can adjust to the situation. And they need to be able to adjust; a Down syndrome baby will have multiple health problems, as well as some serious developmental ones.

Though no Down syndrome baby has all the traits associated with Down syndrome, they will always have a number of the following.

Appearance: Down syndrome babies have relatively flat and broad faces, with a depressed nasal bridge and a small nose. The eyes slant upward at the outer edges. The ears are set low on the head, and have a somewhat abnormal shape. Often, the eyes will have an epicanthic fold on the inner corner of the eye. Several of these features contribute to a slightly Asian appearance.

The tongue and lips of the baby will be somewhat larger than normal, and the chin is receding to a certain degree. The palm bears only a single deep crease, instead of the multiple creases normally seen on a baby. The fifth finger (pinky) has only one flexion furrow, making it look like there is only one joint on the finger. There may be excessive space between the large toe and the second toe. The joints may seem hyperflexible, and the baby may seem to be double-jointed. Finally, the child may exhibit muscle hypotonia, or poor muscle tone.

Less Obvious Problems: About 40 percent of Down syndrome babies will have a serious heart defect that will require treatment. Most Down syndrome babies will have heart and kidney abnormalities to some degree. Down syndrome children are always mentally retarded to some degree, with most of them being moderately retarded, but the range can be anywhere from mild to serious retardation.

A diagnosis of Down syndrome is not the end of the world for your baby or your family. In fact, many families talk about how much delight their Down syndrome child adds to their lives. But it is a difficult thing to live with. Families with a child diagnosed with this syndrome should allow time for it to sink in, and stay in close contact with the doctor so that they can get the best and most timely advice possible for the care of their baby.