The velocardiofacial syndrome is recognised by plenty of names, such as the craniofacial syndrome, Shprintzen syndrome, DiGeorge syndrome, conotruncal anomaly face syndrome, etc. The actual term comes from the Latin words “velum”, “cardia”, and “facies”. Velum means palate, cardia means heart, and facies is about the face. This syndrome includes plenty of common features, including heart defects, cleft palate, and a characteristic facial appearance.
There are also a few other common findings, like learning issues as well as speech and feeding problems. It is worth noting that the velocardiofacial syndrome is the most common type of syndrome associated with the cleft palate. To raise awareness and help people with velocardiofacial syndrome in Queensland, it is important to learn about it as thoroughly as possible. In this guide, we will go over what velocardiofacial syndrome is and what causes it.
Many children are born with this syndrome every year. It is reported that there are also other parts of the body that are affected by this syndrome. For instance, the immune system, which plays a major role in helping fight infections, is affected. The endocrine system, which is a series of glands that discharge hormones for normal development and growth, is also affected. Finally, the neurological system, which is considered a brain control centre for learning, moods, speech and hearing, is also highly affected.
Plenty of studies have concluded that individuals who are born with velocardiofacial syndrome fail to progress over time due to the above-mentioned features. However, it is still vital to know which body systems are affected. It will help the doctors offer you and your children the perfect therapeutic interventions.
Although the exact cause of this syndrome is yet to be known, many researchers have figured out a chromosomal change in individuals with velocardiofacial syndrome. Most children who have velocardiofacial syndrome are reportedly missing a tiny piece of chromosome 22. It is located at a part of the chromosome known as 22q11.2.
However, it is unknown which genes located on this specific part are missing and are leading to causing the features. Scientists have studied a few families with velocardiofacial syndrome and figured out it is an autosomal dominant disorder. Typically, it means that even if only one parent has a chromosomal change, it is enough to pass it to a child. The chances are 50/50. If neither of the parents has it, then the syndrome might be caused by “sporadic.”
Here are some of the associated problems with velocardiofacial syndrome:
Learning about the velocardiofacial syndrome is important, particularly for spreading awareness among people. The information provided in this article is ideal if you are looking to learn about velocardiofacial syndrome.