VCFS and DiGeorge Syndrome
There is a genetic condition which is somewhat related to DiGeorge syndrome in reference to the abnormality of the chromosome. This syndrome is known as Velo-cardio-facial syndrome, or VCFS, which presents itself to people in different ways. Certain conditions are common with this condition such as heart defects, effects on facial appearance, and underdeveloped thymus and the parathyroid glands or simply the lack of it.
The conditions may be similar to that the DiGeorge syndrome, except that there is deficiency in the immune system in the DiGeorge syndrome. This is how the VCFS is differentiated from the DiGeorge syndrome.
What Causes VCFS in People
Missing a small part of the chromosome at 22 at the q11 is what is commonly causing this VCFS. As known, the region involved has 30 individual genes which are responsible for the developmental effects in the specific structure of the person’s body. There have been some doubts why this region is the common part that is deleted. This is observed as something common with those with defects during their birth. It is also reported that there are chances of these gene deletions to be passed on from one generation to another. This means that the risk becomes higher if one person already shows a history of VCFS in the family. The chance of passing this gene is high considering that this gene is autosomal dominant. Which is probably why parents that are diagnosed positive with deletion are offer the opportunity to have their blood studied.
Symptoms Among VCFS
Those that are diagnosed with VCFS are said to have some common features associated to the syndrome. But these features may not always be found in every person who has it.
One of the features is palatal abnormalities which means a person may have a cleft lip or palate, or it could be both. Also noticeable in some individual with VCFS are feeding difficulties, hearing loss or abnormalities in the ear, microcephaly and hypocalcemia.
It is also noticeable in children who have VCFS their small ears with squared upper ear, asymmetric crying faces, hooded eyelids and small sizes of mouth, chin, and the side of the nose tip.
Less Chance in Prevention
Even today, VCFS is still not determined as curable once a person is diagnosed to have it. But there are treatments that are considered as effective. The problems in the heart due to VCFS are now correctible surgically. Those effects on the palate are also proven to be correctible as well.
In spite of the advancement of technology in the medical field, the cure is still elusive for man. And some of these cases of VCFS are even present since childbirth.
Prevention may not be that easy. However, people who already have this could still prevent the same condition from being passed on to their children, what is recommended is to have these future parents to have their blood examined to see any risk in their child having the same condition as theirs.
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