WEBWATCH-Down Syndrome

Down Syndrome is a relatively common birth defect resulting from a chromosome disorder. The chromosome abnormally affects both the physical and the intellectual development of the individual. Down syndrome (DS) causes mental retardation, certain distinct characteristics in the face and multiple malformations. Some of the associated problems are major: risk for heart problems, risk of duodenal atresia (part of the small intestines not developed), and minor but still significant risk of acute leukemia. The chromosome abnormality that causes Down syndrome is Trisomy 21. Instead of having the normal 2 copies of chromosome number 21, the person with DS has three copies. Definite confirmation of this condition requires a sophisticated evaluation of the genetic material of the individual (a chromosome analysis). This is also useful to evaluate if there is a re-arrangement of chromosome 21. This can be heritable and can cause more cases of DS in the family. Evaluation of the DS baby and the family by a medical geneticist is useful.

Other features of the syndrome:

In Down Syndrome there are certain characteristic features in appearance that individually may be quite subtle, but when taken together they permit a clinical diagnosis of DS to be made at birth. The signs of DS include slight flattening of the face, minimal squaring off of the top of the ear, a low bridge of the nose (lower than usually flat nasal bridge of the normal newborn), a so-called "epicanthal" fold of skin over the inner corner of the eye which can also be seen (although less frequently) in normal infants, a ring of tiny harmless white spots around the iris and a little narrowing of the palate. Down syndrome is also associated with major malformations. For examples, approximately half of DS children are born with a heart defect, most often a hole between the two sides of the heart, and Hirschprung's disease which can cause intestinal obstruction occurs more frequently in DS. There are many, many more minor malformations in DS.

Intellectual features of Down Syndrome:

The intellectual handicaps in Down Syndrome are perhaps most important. They are usually evident during infancy and early childhood as developmental delay and later as mental retardation.

Webwatch: The above information was found at the web site: MedicineNet-www.medicinenet.com.

If you have access to a computer, there is one newsgroup dedicated to DS. In your mail/news program, search for bit.listserv.down-syn (note: there is no "e" in listserv), and two great web sites with a ton of information: www.ds-health.com, run by Dr. Len Leshin, a pediatrician who also happens to have a child with DS. The site, www.denison.edu/dsq, is managed by Denison University in Ohio and has a quarterly newsletter dealing with DS. You can check it out and order back issues. For more information on this topic please visit www.medicinenet.com.