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What Causes Velocardiofacial Syndrome?

Velocardiofacial syndrome (VCFS) is caused by deletion of the genes on chromosome 22q11.2. The particular reason for this genetic deletion is not completely understood and seems to occur as a new mutation in a child.

Velocardiofacial syndrome (VCFS) is caused by deletion of the genes on chromosome 22q11.2. In fact, the particular reason for this genetic deletion is not completely understood and seems to occur as a new mutation in a child (in 93 percent of cases).

  • VCFS can occur for the first time in a family for unknown reasons.
  • However, each individual with the diagnosis of VCFS has a 50 percent chance of passing on this syndrome to each of their children.
  • VCFS is inherited in an autosomal dominant fashion, meaning if one parent has the syndrome, each child has a 50 percent chance of inheriting it.
  • Most children born with VCFS have a small part of chromosome 22 missing. The exact location of this deleted segment is 22q11.2, which is why VCFS is also known as 22q11.2 deletion syndrome. This deletion, for whatever reason, occurs as an accident when either the sperm or egg is being formed or very early on during pregnancy.

What are the signs and symptoms of velocardiofacial syndrome?

Researchers and physicians connect at least 30 different health issues to 22q11.2 deletion. Although none of these issues occur in all cases, the most common features associated with velocardiofacial syndrome (VCFS) include

  • Palatal differences such as cleft palate
  • Heart defects
  • Problems fighting infection
  • Low calcium levels
  • Differences in the way the kidneys are formed or work
  • Characteristic facial appearances such as an elongated face, almond-shaped eyes, a broad nose and small ears
  • Developmental delays such as learning disabilities

Apart from the above, below are a few other common signs and symptoms of VCFS.

  • Eye problems
  • Feeding problems
  • Middle-ear infections
  • Weak muscles
  • Differences in the spine such as scoliosis
  • Bony abnormalities in the neck or upper back
  • Tapered fingers
  • Psychiatric illness

How is VCFS diagnosed?

Doctors suspect velocardiofacial syndrome (VCFS) as a diagnosis based on clinical examination and the presence of signs and symptoms of the syndrome. Apart from these, doctors may order the following.

  • Blood tests: These are to look for immune system problems in kids with VCFS.
  • X-ray: Doctors can get pictures of the internal tissues, bones and organs using X-rays.
  • Echocardiography: This test uses sound waves to produce images of the structures of the heart and to examine how well the heart is working.
  • Fluorescent in situ hybridization (FISH): This blood test looks at a specific spot in the 22q11.2 region to see if it is deleted. If the FISH test doesn’t find any deletion in the 22q11.2 region of the chromosome, but the child exhibits signs of the syndrome, they will need a full chromosome study. This study will look for other chromosome problems.
  • Chromosomal microarray: This is similar to the FISH test. However, it looks at many regions across all the chromosomes, including chromosome 22. This is to find a missing piece in the 22q11.2 location. This test is done more commonly than the FISH test to look for the deletion.

Can velocardiofacial syndrome be cured?

Although there is no cure for velocardiofacial syndrome (VCFS), treatments exist to help correct and manage different problems arising from the syndrome. Medication and surgical procedures that arise from VCFS can be treated with approved medical and surgical procedures. These procedures are used to help mitigate challenges in a child’s development and help them function normally in the world. Treatment will depend on the child’s symptoms, age and general health. It will also depend on how severe the condition is. Treatment options may include any of the following.

  • The cardiologist may correct heart defects using a procedure or surgery.
  • A plastic surgeon, an otolaryngologist or oral and maxillofacial surgeon and a speech pathologist will look at any cleft lip or cleft palate defects.
  • Speech and digestive specialists may look at any feeding problems. Patients may need tube feedings to get enough nutrition.
  • If a child has a T cell problem (immunity problem), they are at a risk of infections that keep coming back. An immune system specialist would help in such cases.
  • A neurology and developmental pediatric specialist may help patients with learning, developmental and behavioral difficulties.
  • An endocrinologist may check if the parathyroid glands haven’t fully developed. This can result in hypocalcemia that causes low calcium levels. It’s a potentially life-threatening side effect of the syndrome.

Other common problems that may need treatment include

  • Low calcium is common in children with the syndrome, especially right after birth. However, it can also occur during times of stress such as during puberty or after surgery. The child may need to take calcium and vitamin D supplements.
  • Young children with 22q11.2 deletion syndrome may be slow to meet developmental milestones. These include sitting, walking and talking.

The International 22q11.2 Deletion Syndrome Foundation recommends that parents consider physical therapy (PT), occupational therapy (OT) and speech therapy for their child. PT strengthens the large muscles and helps children meet developmental milestones. OT focuses on the small muscles used for tying shoes, buttoning clothes and other tasks. It can also help with feeding problems. Speech therapy can help the child with language delays.


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Medically Reviewed on 5/27/2021


Medscape Medical Reference

National Human Genome Research Institute

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