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What is Velocardiofacial Syndrome (VCFS)? And what causes it?

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.

1.  What is Velocardiofacial Syndrome?

Put simply, velocardiofacial syndrome is a genetic condition that is hereditary in some cases. It is typically defined by a mixture of medical problems that range from children to children. The problems include cleft palate, visible opening in the mouth’s roof and other differences in the palate, issues fighting infection, heart defects, lower calcium levels, differences in the manner the kidneys work or are formed, etc.

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.

2.  What Causes Velocardiofacial Syndrome?

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.”

3.  The Related Problems

Here are some of the associated problems with velocardiofacial syndrome:

  • The lower jaw is underdeveloped
  • A quite long face with a notable upper jaw
  • Low set ears
  • Notable nose with tight nasal passages
  • A very thin upper lip along with a down-slanted mouth
  • Behavioural issues like ADHD, anxiety, and depression
  • Loss in hearing
  • Speech issues
  • Learning disabilities

Wrapping Up

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.

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