top of page

Syndromes

A syndrome is a disease or disorder that has more than one identifying feature or symptom.

Each particular genetic syndrome will have many typical features, depending on which aspects of development are affected by the abnormal genes or chromosomes.

A child might be born with obvious body deformities, abnormal organ function (for example: heart, brain, gut, or kidney), or neurological problems (for example, when a baby’s body is floppy or the baby is unable to nurse or bottle feed).

However, many of the genetic syndromes start to take effect only once the baby has been born and is starting to feed and grow. These babies may look and act entirely normal at birth, but then develop problems later on in life.

IMG_7075.jpg
1O6A4483_edited.jpg
1O6A4483_edited.jpg

There are several types of genetic disorders. The way in which the disorder is inherited can help determine the risks it will have on a pregnancy and the risk of recurrence it will recur in future children.

 

Risks for having a baby with a birth defect from a genetic abnormality may be increased when:

- The parents have another child with a genetic disorder

- There is a family history of a genetic disorder

- One parent has a chromosomal abnormality

- The fetus has abnormalities seen on ultrasound.

IMG_7075.jpg

Types of genetic disease:
 
The following are the different types of genetic diseases including:
- Chromosomal abnormalities
- Single gene defects
- Multifactorial problems
- Teratogenic problems

Examples of Syndromes types:

- Angelman Syndrome

- Cri du Chat Syndrome

- Down Syndrome

- Fragile X Syndrome

- Klinefelter Syndrome

- Neurofibromatosis

- Prader-Willi Syndrome

-  Rett Syndrome

- Tourette Syndrome

IMG_7051.jpg
1O6A3548.jpg

How are genetic problems diagnosed? Families at risk for genetic diseases may want to consult a certified genetic counselor.

A careful family pedigree (chart of members of the family) and history may help determine risks for certain problems. Genetic counseling also helps parents understand the effects of a disorder and ways it may be prevented or treated. It may be necessary to check each parent's DNA to learn about some genetic inheritance patterns. Prenatal testing is also available to check the fetus for problems. Testing may include ultrasound (using sound waves to look at internal structures), chorionic villus sampling (testing the tissues around the fetus), or amniocentesis (withdrawing a sample of the amniotic fluid)

bottom of page