DiGeorge Syndrome Facial Features

Filed under: Digeorge Syndrome - 13 Nov 2010  | Spread the word !

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DiGeorge Syndrome is a genetic problem where the 22 chromosome in the q11 region becomes deleted or deteriorated to a degree that creates problems with the genes in the region. This deletion/deterioration leads to many different problems that manifest in the infants development structure and are very easy to detect once the problem has been pinpointed. However, because it affect development in specific areas, it is possible for DiGeorge Syndrome to also affect the facial features of the child.

Not all children afflicted with this genetic issue will show the same or even all the symptoms as the degradation can vary from one person to another. In general, the physiological problems will be the first to manifest themselves and be the easiest to detect. However, there are some children that are severely affected with facial feature symptoms.

The features that are known to be associated with DiGeorge Syndrome (and again not all may be present or obvious) include things like cleft palate or lip, boxed ears that are also smaller than normal and even hooded eyelids. Additionally, there may be some degree of asymmetry in the child’s face when they cry and they may also have a smaller than normal mouth, chin and nose tip sides.

While these features are known to be associated with DiGeorge Syndrome, it is important to never make a diagnosis based on these facial features. Also, if a doctor tries to diagnose your baby based on the facial features, you should immediately seek out a new doctor that will run the necessary tests to be sure of the diagnosis.

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