What are the Different Types of Congenital Abnormalities?

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  • Last Modified Date: 10 November 2019
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Congenital tends to mean present at birth, and abnormality could be defined as something differing from normal. Congenital abnormalities are thus those features or differences that are present when a child is born, even if they’re not immediately noticed. There are many of these that can be caused by a variety of factors including genetics, unknown genetic change, or environment. Sometimes the cause of these abnormalities, which many prefer to call anomalies, simply isn’t known.

One way to group congenital abnormalities is by body system they primarily affect, when and if they are present alone. For instance, the most common of birth defects, heart defects, most impacts the cardiovascular system. These range from insignificant slight changes that may never be noticed and may go away on their own, to severe and complex malformations of the heart that can alter its shape and function in profoundly dangerous ways.

Many congenital anomalies relate to bone or skeletal system growth. Some types that might fall within this range are any form or clubfoot, fused fingers or hands, unusual growth or lack of growth of skeletal structure, and congenitally shorter limbs, as could be present in children with Down syndrome. Cleft palate may also be in this grouping, although severe clefts can affect the sinuses and breathing too.


There are congenital anomalies of the reproductive system and the urinary tract. These include being born with male and female reproductive elements or missing various elements that would allow reproduction to occur. Fusing of the anus or ureter or communications between rectum and vagina can be present in some children.

Many times when a child is born with congenital abnormalities, a number of systems are affected at once. It is not unthinkable for a baby to have defects of multiple areas, and these are often classed as a syndrome, though not always. For instance, cerebral palsy, which is often viewed as being caused by injury to the brain in the third trimester or at birth, can show a variety of weakness and poor function that will impair things like walking, most fine motor skills and even talking and eating.

Certain syndromes also are marked by a capacity to affect several areas. Down syndrome typically impacts brain function and learning. Children are also characterized by epicanthic folds over the eyes, shorter limbs, and some difficult with fine motor skills. They may have heart defects too, or be prone to hypertrophic cardiomyopathy in later life.

Some children with heart defects have heterotaxy or Ivemark’s syndrome. In addition to complex heart defects, children may also not have a spleen or have many tiny functioning spleens. In contrast, conditions like spina bifida may cause problems with the lower half of the body and could impair walking and movement or things like bladder and bowel function.

Another thing that is true of some congenital abnormalities is that they may not be expressed at birth, and it can be months or even years before the abnormality is discovered. Certain defects of organs might be minor at first, posing little problem to a newborn. Anomalies may emerge as a child grows, they may worsen with age, or they can cause aggressive deterioration of the whole body.

What can be said about congenital abnormalities is that they are fortunately rare, but they have the capacity to impact just about any part of the body from the blood, to the tissues, to the skeletal system to the major and minor organs. Though there are presently many ways to address some of these conditions, there are not ways to cure all of them or minimize their impact on a child’s life. It cannot always be known who will have a child with a congenital anomaly, though gene testing may help if a family has a known genetic connection to certain illnesses. Of use too, is taking folic acid supplements prior to conception and during pregnancy, since this has been shown to sharply reduce risk of certain defects.


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