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The velocardiofacial name syndrome has been derived from the Latin words ‘velum’, which palate, ‘cardia’ which means heart, and ‘facies,’ which means facial expression. As per studies, surveys and opinion of the experts, around 1 in every 1000 to 2000 persons in Australia have this problem, which makes it the second most common genetic syndrome after the Down syndrome. New studies also suggest that the syndrome could affect 1 in every 1000 live births. It is the most common genetic syndrome related to cleft palates as 65% of patients will either have a cleft palate or abnormality of the palate. After thorough research, experts have also found that people with velocardiofacial syndrome have a problem in heart and struggle to learn things. Around 70% of kids with this syndrome is expected to have a defect in their heart, while 90% to have Learning impairments.
A person with this syndrome has the following symptoms.
- Heart defects: This problem is usually present right from birth.
- Mouth problems: When cleft palate and a palate, which doesn’t move normally, are responsible for a speech problem.
- Ear problems: The syndrome can also cause hearing loss or increase the infection in the middle ear.
- Low calcium level in the blood: It can cause various problems like Parathyroid glands, which can start seizures.
- Weak Immunity: A person with this syndrome also gets more infections because of the weak immune.
- Problem in Spine: It also causes problems with the bones of the upper back and your neck.
- Learning Issues: Such problems include delay in the speech and cognitive process and overall development.
- Mental Illness: It also includes depression, anxiety or schizophrenia for adults.
- Feeding difficulties: Such a problem is also possible because of gastroesophageal reflux, a cleft palate, or some other problems.
- Kidney Problems: An abnormally shaped kidney or a missing kidney is also an indication of this syndrome.
There is a particular genetic test to detect this condition that is called Fluorescent in situ hybridization or FISH studies. It is performed at several medical centres in Queensland and other parts of the country. After studying a few families with velocardiofacial syndrome, researchers have decided that it is an autosomal dominant disorder.
It means that only the father or mother needs to have the chromosomal change that can get passed to the child. A parent with this syndrome has a half chance of transferring it to the child. However, it is predictable that the velocardiofacial syndrome passed this way is hardly 10 to 15% of cases. Usually, neither father nor mother has the syndrome have the defective gene.
Your child should be checked by an immune system specialist. If the child has a T cell issue, then they are at risk for infections as it will keep coming back. Your kid should not get any live viral vaccines. Your child should have any blood products for a transfusion irradiated. This is true unless your immune system specialist says that it is not required.