Velocardiofacial Syndrome - Causes, Symptoms, Diagnosis, and Treatment

What Is a Velocardiofacial Syndrome?

Velocardiofacial syndrome, or 22q11.2 deletion syndrome (22q11.2DS), is a genetic condition. Children affected by this syndrome. have a small fragment of chromosome 22 missing. It is located on a chromosome known as q11.2. The syndrome has been named after the missing piece of chromosome 22.

22q11.2DS affects about 1 in 4,000 people. However, this number, according to some experts, is higher. In addition, due to the mild symptoms, some parents of children with this chromosome disorder may not be aware of it.

Numerous health issues may result from this. Seizures, heart defects, and developmental delays are some of the issues. The child's eyes, nose, and ears may also have changed, or the child may have a cleft palate, an opening in the roof of the mouth.

However, the majority of children with the syndrome only experience some health issues. Most health issues can be treated, especially if they are discovered early.

The velocardiofacial syndrome can have a wide range of symptoms depending on the child. As a result, various disorders caused by this defective gene have previously been referred to by other names. These names include:

• 22q11.2 deletion syndrome (22q11.2DS).

• DiGeorge syndrome.

• Shprintzen syndrome.

• Sedlackova syndrome.

• Conotruncal anomaly face syndrome (CTAF).

• CATCH 22 syndrome.

A form of Opitz G/BBB syndrome or Cayler cardiofacial syndrome had previously been identified in some of these children. Healthcare providers now know that 22q11.2DS is the same genetic cause for all these disorders.

What Causes Velocardiofacial Syndrome?

The majority of kids with velocardiofacial syndrome have about 40 genes missing. Many of these genes' precise functions are yet unknown to researchers. The disease's most prevalent physical symptoms are likely caused by chromosome 22 TBX1 gene deficiency. Heart issues and cleft palates are among these. The increased risk for behavioral issues and mental illness may also be explained by deleting a different gene called COMT.

The cause of velocardiofacial syndrome is random in about 90 % of instances. When the egg is fertilized, they are present. It can also occur early on in a baby's development in the mother's womb. Accordingly, most kids with the disease do not have any family history of it.

However, a person with the illness may pass it on to their offspring. The mother or the father is responsible for about 1 in 10 occurrences. Other family members may also be impacted if the illness is inherited. One in two people with this chromosomal loss will pass it on to their offspring. Both parents' blood should be tested to check if they are carriers of the syndrome.

What Are the Symptoms of Velocardiofacial Syndrome?

Even across families, velocardiofacial syndrome symptoms might differ greatly. With this condition, at least 30 symptoms have been observed. Most kids only display a few of these symptoms. The most common symptoms of this condition include the following:

• Heart Problems: These are typically apparent at birth (congenital).

• Mouth Issues: These include a cleft palate and an abnormally rigid palate (velopharyngeal insufficiency). Speech issues may result from them.

• Ear Defects: Hearing loss or middle ear infections are examples of ear issues.

• Decreased Calcium: Low amounts of calcium in the blood can cause seizures because of issues with the parathyroid glands.

• Immune System Problems: These can make a person more susceptible to infections.

• Spinal Defects: Scoliosis (spine curvature) and issues with the neck or upper back bones are examples of spinal abnormalities.

• Learning Difficulties: Speaking and developmental impairments are examples of learning issues.

• Social Problems: This involves communication problems, an example of which is Autism.

• Mental Illness: An increased risk of developing a mental illness in adulthood, such as anxiety, depression, or schizophrenia.

• Feeding Difficulties: It may be difficult to feed the child because of associated problems such as cleft palate or gastroesophageal reflux disease (GERD).

• Kidney Issues: These could include a kidney that is absent or has an unusual form.

The typical facial features of children with the velocardiofacial syndrome include:

• Small-sized chin, mouth, and side areas of the tip of the nose.

• Squared upper ear with small ears.

• Cleft palate, cleft lip, or both.

• Hooded eyes.

• Asymmetrical (uneven) face when crying.

How Is Velocardiofacial Syndrome Diagnosed?

The child's healthcare provider will examine the complete health and family history. They will also perform a physical examination. The child might require some tests. These tests may include the following:

• Blood Tests: These are to check for issues with the immune system.

• X-ray: Images of internal organs, bones, and tissues are produced by this test.

• Echocardiography: The heart's structure and functioning are examined in this test.

• Studies Using Fluorescent in Situ Hybridization (FISH): This blood test checks for deletion at a specific location in the 22q11.2 region. A full chromosome study is typically required if the FISH test reveals no deletion in the 22q11.2 region of the chromosome but the child exhibits symptoms of the syndrome. In addition, this will look for other problems with the chromosomes.

• Chromosomal Microarray: A FISH test is comparable to this. However, it examines numerous regions on all chromosomes, including chromosome 22. This helps locate the missing component in 22q11.2. This test is performed more frequently than the FISH test to find the deletion.

How Is Velocardiofacial Syndrome Treated?

Velocardiofacial syndrome is incurable. However, there is a treatment for many of the related health issues. Taking the child to early examination and diagnosis can be beneficial. The child's symptoms, age, and general health play a role in treatment. It also determines the severity of the condition. Working with specialists is part of the treatment. The specialist could be any one of the following:

• Cardiologist: They will investigate any heart problems. They might be fixed by surgery or a procedure by the cardiologist.

• Otolaryngologist or Oral and Maxillofacial Surgeon, Speech Pathologist, and Plastic Surgeon: Any cleft lip or palate defects examined and treated.

• Digestive Specialists: They investigate any feeding issues. Feeding issues can be severe in some children with this syndrome. For example, they might need to be fed through a tube to get enough nutrition.

• Immune System Specialist: The specialist will examine the child's susceptibility to persistent infections if they have a T cell disorder. No live viral vaccines should be administered to the child. Any blood products intended for a transfusion should be irradiated. This holds true unless the child's immune system healthcare provider states it is not required.

• Pediatric Neurology and Developmental Specialist: Learning, development, and behavior problems are common. This kind of healthcare provider can look for, monitor, and treat these issues if they arise.

• Endocrinologist: The endocrine system is the focus of this specialist's work. The child might not yet have fully developed parathyroid glands. Hypocalcemia, or low calcium levels, can result from this. It is a syndrome-related side effect that could kill an individual.

Other problems that are common and may require treatment include:

• Low Calcium: Children with velocardiofacial syndrome frequently experience this, particularly shortly after birth. However, it can also occur during stressful times like puberty or after surgery. Therefore, supplements containing calcium and vitamin D may be required for the child.

• Development Problems: It is possible that young children with the velocardiofacial syndrome will not reach developmental milestones on time. Sitting, walking, and talking are all examples. The International 22q11.2 Deletion Syndrome Foundation advises parents to consider getting their child physical, occupational, or speech therapy. Physical therapy helps children reach developmental milestones and strengthens large muscles. Small muscles used for tying shoes, buttoning clothes, and other tasks are the focus of occupational therapy. Additionally, it may assist with feeding issues. A child with language delays may benefit from speech therapy.

Conclusion:

A velocardiofacial syndrome is a genetic condition that results from the absence of a small portion of chromosome 22. One in ten cases is inherited. The symptoms can be anything from heart defects and delays in development to seizures. There is no treatment for the syndrome. However, numerous related health issues arising due to this can be treated. The majority of children who receive treatment early live to be adults. However, there is a one in two chance that a person with this condition will pass it on to a child; therefore, genetic counseling and testing are crucial.