INFORMATION ON DOWN SYNDROME
Down syndrome is characterized by a combination of major and minor abnormalities of body structure and function. Among features present in nearly all cases are impairment of learning and physical growth, and a recognizable facial appearance usually identified at birth. Babies with Down syndrome tend to develop more slowly than other babies do. They may start walking later than other babies. About half are born with heart defects, which mean there is something different with the way their hearts developed. Usually, these problems can be corrected by surgery. Down syndrome or trisomy 21 is a genetic condition resulting from the presence of all or part of an extra 21st chromosome.SYNONYMS OF DOWN SYNDROME
Synonyms of Down's syndrome are:1. Down's syndrome.
2. Trisomy 21 syndrome.
3. Mongolism.
4. Congenital acromicria syndrome.
CAUSES OF DOWN SYNDROME
Main causes of Down syndrome are:1. The exact cause of Down syndrome is not known.
2. Down syndrome is a chromosomal accident. It is not caused by anything the parents may have done before or during pregnancy.
3. The syndrome can occur in any family. As it is an inherit diseases.
4. Babies with Down syndrome can be born to mothers of any age, but it occurs more often if the mother is older.
5. Just because you have had a baby with Down syndrome does not mean you will have another baby with Down syndrome, however the risk is greater.
SYMPTOMS OF DOWN SYNDROME
Symptoms of Down syndrome are:1. Flat appearing face.
2. Small head.
3. Flat bridge of the nose.
4. Smaller than normal, low-set nose.
5. Upward slanting eyes.
6. Rounded cheeks
7. Small, misshapen ears.
8. Small, wide hands.
9. A malformed fifth finger.
10. Overly-flexible joints.
11. horter than normal height.
12. Unusual creases on the soles of the feet.
13. A wide space between the big and the second toes.
14. An unusual, deep crease across the center of the palm.
15. Extra folds of skin located at the inside corner of each eye, near the nose.
16. Small mouth, which causes the tongue to stick out and to appear overly large.
DIAGNOSIS OF DOWN SYNDROME
Diagnosis is usually suspected at birth, when the characteristic physical signs of Down syndrome are noted. This testing is usually done on a blood sample, although chromosome analysis can also be done on other types of tissue, including skin. The cells to be studied are prepared in a laboratory. Chemical stain is added to make the characteristics of the cells and the chromosomes stand out.Other diagnostic tests are:
1. Chromosome studies.
2. Chest x-ray.
3. Echocardiogram.
4. ECG.
5. Gastrointestinal x-ray.
6. Amniocentesis is used most commonly to identify chromosomal problems, such as Down syndrome.
7. Like amniocentesis, chorionic villus sampling is used most commonly to identify chromosomal problems, such as Down syndrome.
8. The primary purpose of ultrasound is to determine the status of a pregnancy - the due date, size of the fetus and multiple gestations.
