About velocardiofacial syndrome

What is velocardiofacial syndrome?

General Discussion

Chromosome 22q11.2 deletion syndrome is associated with a range of problems including: congenital heart disease, palate abnormalities, immune system dysfunction including autoimmune disease, low calcium (hypocalcemia) and other endocrine abnormalities such as thyroid problems and growth hormone deficiency, gastrointestinal problems, feeding difficulties, kidney abnormalities, hearing loss, seizures, skeletal abnormalities, minor facial differences, and learning and behavioral differences. The symptoms of this condition are extremely variable, even among members of the same family. Chromosome 22q11.2 deletion syndrome is a disorder caused by a small piece of chromosome 22 missing. A number of separately described diagnoses including DiGeorge syndrome (DGS), velocardiofacial syndrome (VCFS), conotruncal anomaly face syndrome (CTAF), autosomal dominant OpitzG/BBB syndrome and Cayler Cardiofacial syndrome were all originally thought to be separate disorders before the chromosome 22q11. 2 deletion was identified in individuals affected with all of these conditions.

What are the symptoms for velocardiofacial syndrome?

Hypertelorism (wide-set eyes) symptom was found in the velocardiofacial syndrome condition

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

What are the causes for velocardiofacial syndrome?

Each person has two copies of chromosome 22, one inherited from each parent. If a person has DiGeorge syndrome (22q11.2 deletion syndrome), one copy of chromosome 22 is missing a segment that includes an estimated 30 to 40 genes. Many of these genes haven't been clearly identified and aren't well-understood. The region of chromosome 22 that's deleted is known as 22q11.2.

The deletion of genes from chromosome 22 usually occurs as a random event in the father's sperm or in the mother's egg, or it may occur early during fetal development. Rarely, the deletion is an inherited condition passed to a child from a parent who also has deletions in chromosome 22 but may or may not have symptoms.

What are the treatments for velocardiofacial syndrome?

Although there is no cure for DiGeorge syndrome (22q11.2 deletion syndrome), treatments can usually correct critical problems, such as a heart defect or cleft palate. Other health issues and developmental, mental health or behavioral problems can be addressed or monitored as needed.

Treatments and therapy for 22q11.2 deletion syndrome may include interventions for:

  • Hypoparathyroidism. Hypoparathyroidism can usually be managed with calcium supplements and vitamin D supplements.
  • Heart defects. Most heart defects associated with 22q11.2 deletion syndrome require surgery soon after birth to repair the heart and improve the supply of oxygen-rich blood.
  • Limited thymus gland function. If your child has some thymic function, infections may be frequent, but not necessarily severe. These infections — usually colds and ear infections — are generally treated as they would be in any child. Most children with limited thymic function follow the normal schedule of vaccines. For most children with moderate thymus impairment, immune system function improves with age.
  • Severe thymus dysfunction. If the impairment of the thymus is severe or there's no thymus, your child is at risk of a number of severe infections. Treatment requires a transplant of thymus tissue, specialized cells from bone marrow or specialized disease-fighting blood cells.
  • Cleft palate. A cleft palate or other abnormalities of the palate and lip can usually be surgically repaired.
  • Overall development. Your child will likely benefit from a range of therapies, including speech therapy, occupational therapy and developmental therapy. In the United States, early intervention programs providing these types of therapy are usually available through a state or county health department.
  • Mental health care. Treatment may be recommended if your child is later diagnosed with attention-deficit/hyperactivity disorder (ADHD), autism spectrum disorder, depression, or other mental health or behavioral disorders.
  • Management of other conditions. These may include addressing feeding and growth issues, hearing or vision problems, and other medical conditions.

Health care team

Because 22q11.2 deletion syndrome can result in so many problems, several specialists will likely be involved in diagnosing specific conditions, recommending treatments and providing care. This team will evolve as your child's needs change. Specialists on your care team may include these professionals and others, as needed:

  • Children's health specialist (pediatrician)
  • Expert in inherited disorders (geneticist)
  • Heart specialist (cardiologist)
  • Immune system specialist (immunologist)
  • Ear, nose and throat (ENT) specialist
  • Infectious disease specialist
  • Hormone disorder specialist (endocrinologist)
  • Surgeon who specializes in correcting such conditions as a cleft palate (oral and maxillofacial surgeon)
  • Surgeon who specializes in correcting heart defects (cardiovascular surgeon)
  • Occupational therapist to help develop practical, everyday skills
  • Speech therapist to help improve verbal skills and articulation
  • Developmental therapist to help develop age-appropriate behaviors, social skills and interpersonal skills
  • Mental health professional, such as a pediatric psychiatrist or psychologist

What are the risk factors for velocardiofacial syndrome?

Velocardiofacial syndrome (VCFS) is a genetic disorder that affects the brain and body. It can cause mild to severe medical problems, such as heart defects, hearing loss, cleft lip or palate, developmental delays, and learning disabilities.

The disorder is caused by changes in chromosome 22 (one of the 23 pairs of chromosomes found in each cell), which is called a deletion. This means that part of the chromosome has been deleted, and some genes are missing. When this happens, genes that control important functions may not work properly.

There are many risk factors for the velocardiofacial syndrome, such as:

  • Genetic inheritance from parents
  • Familial history of cardiac defects or cleft lip and palate
  • Low birth weight
  • Exposure to teratogenic drugs during pregnancy
  • Maternal rubella (German measles) infection in the first trimester of pregnancy
  • Exposure to valproic acid, carbamazepine, phenobarbital, or phenytoin (anticonvulsants) in the first trimester of pregnancy
  • Exposure to thalidomide during pregnancy
  • Having a family history of VCFS
  • Being born to older parents
  • Having other genetic conditions like Down syndrome or DiGeorge syndrome
Symptoms
Hypertelorism (wide-set eyes),Low set ears,Hearing loss (either mild or severe),Cardiac defects, such as Tetralogy of Fallot or Atrial septal defect (ASD),Abnormalities of the teeth (overbites, underbites, crowded teeth)
Conditions
Chromosomal abnormalities, such as trisomy 21 (Down syndrome) and trisomy 18 (Edwards syndrome),Mutation in the gene for POR1, which is responsible for the production of the enzyme prolyl oligopeptidase,A mutation in the SHH (Sonic hedgehog) gene, which is responsible for producing sonic hedgehog protein,Abnormalities in genes involved in the production of collagen and fibronectin proteins
Drugs
Anticonvulsants,Anticoagulants,Steroids,Anti-inflammatories

Is there a cure/medications for velocardiofacial syndrome?

VCFS is a genetic disorder caused by a change in one of your genes. The exact cause is unknown, but it can be passed down through families. The symptoms of VCFS vary from person to person, but they often include cardiac defects and disabilities such as learning disabilities or autism spectrum disorder.

There is no cure for the velocardiofacial syndrome (VCFS), but there are treatments that can help manage the symptoms.

There are various medications that can help with certain symptoms of VCFS, including:

  • Anticonvulsants — These drugs prevent seizures and control abnormal electrical activity in the brain. They're used to treat epilepsy and seizures caused by VCFS.
  • Anti-inflammatories — These drugs reduce swelling, redness, and pain caused by inflammation. They're used to treat inflammation in patients with VCFS; however, they won't cure the condition itself.
  • Cardiac medications — These drugs are given to improve heart function in people with heart defects related to VCFS; however, they won't cure the condition itself.
  • The most commonly prescribed medications for VCS are Anticonvulsants (anti-seizure drugs), Antihistamines (to help with allergies), and Calcium/vitamin D supplements (to help with bone development), and Hormone replacement therapy (for girls who are entering puberty).

Symptoms
Hypertelorism (wide-set eyes),Low set ears,Hearing loss (either mild or severe),Cardiac defects, such as Tetralogy of Fallot or Atrial septal defect (ASD),Abnormalities of the teeth (overbites, underbites, crowded teeth)
Conditions
Chromosomal abnormalities, such as trisomy 21 (Down syndrome) and trisomy 18 (Edwards syndrome),Mutation in the gene for POR1, which is responsible for the production of the enzyme prolyl oligopeptidase,A mutation in the SHH (Sonic hedgehog) gene, which is responsible for producing sonic hedgehog protein,Abnormalities in genes involved in the production of collagen and fibronectin proteins
Drugs
Anticonvulsants,Anticoagulants,Steroids,Anti-inflammatories

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