Velo-Cardio-Facial Syndrome (VCFS)

  • Overview

    Specialists here at Boston Children’s Hospital have already helped many children, adolescents and young adults who have been diagnosed with velo-cardio-facial syndrome (VCFS). An important first step in understanding what lies ahead is familiarizing yourself with the basics about VCFS.

    A genetic disorder

    VCFS is a condition in which chromosome 22q11 is abnormal, resulting in certain changes that can involve the palate and speech (“velo-“), the anatomy of the heart (“cardio-“) and the appearance of the face (“facial”). The syndrome has many associated features, not all of which occur to every child. These can—but don’t necessarily—include:

    • Difficulty with swallowing, feeding and speaking
    • Congenital (present at birth) heart disease
    • Facial differences
    • Learning, behavioral and psychiatric difficulties
    • Autoimmune disease
    • Low calcium (hypocalcemia)
    • Thyroid and growth hormone problems
    • Gastrointestinal problems
    • Kidney abnormalities
    • Hearing loss
    • Seizures
    • Skeletal abnormalities

    How Boston Children’s Hospital approaches velo-cardio-facial syndrome:

    The experts in Boston Children’s Cardiac Neurodevelopmental Program, Cardiology Department, Cardiovascular Genetics Program, Developmental Medicine Center, and Genetics Division, and other interdisciplinary departments are experienced in caring for children who have VCFS. We use multidisciplinary evaluation and treatment techniques to enhance the lives of children with complex conditions, such as velo-cardio-facial syndrome, that affect their physical, psychological and social development.

    We advance care through early diagnosis and evidence-based protocols geared to specific disorders such as VCFS, in order to maximize the quality of children's lives. And we leverage the resources of our divisions to help pediatricians, teachers and parents more fully serve developmentally challenged children.

    Velo-cardio-facial syndrome: Reviewed by Janice Ware, PhD
    © Boston Children’s Hospital, 2012

  • In-Depth

    Boston Children’s Hospital provides a wide range of diagnostic, treatment, consultation and advocacy services for children with velo-cardio-facial syndrome (VCFS). Until you meet with our team of doctors in the Cardiac Neurodevelopmental Program, Cardiology Department, Cardiovascular Genetics Program, Developmental Medicine Center, and the Genetics Division, you may find it helpful to read about VCFS provided in the following pages.

    How common is VCFS?
    Although less well known, VCFS is almost as common as Down syndrome. Current estimates place the incidence of VCFS in the range of 1 in 2,000 to 1 in 4,000 newborns.

    Causes

    Why does VCFS occur?
    Chromosomes are small, threadlike structures composed of thousands of genes and found in every cell of the body. Normal cells contain 46 chromosomes (23 from the mother, 23 from the father), and each chromosome has a specific number. VCFS results from a defect in chromosome 22.

    The condition may or may not run in a child’s family. It’s estimated that about 10 to 15 percent of cases are inherited. A parent with VCFS has a 50 percent chance of passing it on to the child.

    Signs and symptoms

    What are the signs and symptoms of VCFS?

    Every child with VCFS can exhibit different combinations of signs and symptoms, with differing degrees of severity. Some babies show signs of the condition at birth and others are diagnosed in a child’s first few years.

    The most common symptoms include: 

    • Cleft lip/palate and other palate abnormalities, which may cause speech difficulties 
    • Middle ear infections or hearing loss.
    • Impaired vision
    • Feeding difficulties 
    • Low levels of calcium in the blood, due to problems with the parathyroid glands, which can trigger seizures.
    • Immune system problems that can increase the risk of infections 
    • Kidney abnormalities 
    • Spine problems, such as curvature in the spine (scoliosis) and abnormalities in the bones of  the neck or upper back 
    • Developmental delays 
    • Communication and social interaction problems, including autism 

    Facial features of children VCFS may include the following:

    • Small ears with squared upper ear
    • Hooded eyelids
    • Cleft lip and/or palate
    • Asymmetric facial appearance when crying
    • Small mouth, chin and side areas of the nose tip
  • Tests

    Evaluation and diagnosis of velo-cardio-facial syndrome (VCFS) is performed by a team of specialists  from various programs at Boston Children’s Hospital, including the Cardiac Neurodevelopmental Program, CardiologyDevelopmental Medicine Center, Genetics, Neurology, and Psychiatry. Using a multidisciplinary approach allows us to gain a better understanding of your child’s specific medical concerns. 

    How is velo-cardio-facial syndrome diagnosed?

    Genetic tests are used to diagnose VCFS, but the following tests may also be performed to rule out or identify problems associated with VCFS:

    These can include tests of organ systems, such as:

    • Cardiac ultrasound (echocardiogram) to detect heart problems
    • Kidney ultrasound to detect kidney abnormalities
    • X-rays to evaluate the musculoskeletal system
    • Blood tests to evaluate calcium levels and immune system
  • All the members of the Cardiac Neurodevelopmental Program and the Division of Genetics here at Boston Children's Hospital are dedicated to diagnosing any complications that a child with velo-cardio-facial syndrome (VCFS) may experience, and developing the best therapeutic plans to manage them.

    How is VCFS treated?

    Treatment focuses on the health problems related to the syndrome. For this reason, the first step in the treatment process is a careful screening evaluation to check for underlying medical problems.

    In addition to experts in the Division of Genetics and the Cardiac Neurodevelopmental Program, children with VCFS will be assessed by the following specialists: 

    • Plastic surgeons, who may perform an assessment of cleft lip and/or palate defects.
    • Neurologists, who evaluate neurobehavioral functioning and identify problems such as small head (microcephaly)

    How are the medical complications of VCFS treated?

    Common problems that may require treatment include: 

    • Heart defects: Surgery will be used to correct common cardiac conditions in children with VCFS, such as ventricular septal defects and tetralogy of fallot
    • Cleft lip/palate: Experts in Oral and Maxillofacial Surgery at Boston Children's will perform surgery on children with VCFS to repair the opening in their lip and/or palate
    • Feeding difficulties: Some children with the syndrome have severe feeding difficulties and need tube feedings in order to get adequate nutrition. Feeding difficulties are not usually related to heart or palate problems, but rather to intestinal problems caused by the syndrome.
    • Low calcium: Low levels of calcium are common in children with VCFS, especially right after birth. But it can also recur during stressful periods, such as during puberty or following surgery. A child may need to take calcium supplements as well as vitamin D to help absorb the calcium. A referral to an endocrinologist (doctor who specializes in treating conditions affecting the endocrine system) may be recommended.
    • Developmental difficulties: Young children with VCFS syndrome may be slow to achieve developmental milestones, such as sitting, walking and talking. To address these issues, it's recommended that parents access early intervention services as soon as possible.  Children with VCFS typically benefit from developmental supports that include physical therapy, occupational therapy, and speech therapy.

    How is VCFS managed as the child grows?

    If your child has VCFS, she'll need regular check-ups with her cardiologist throughout her life to monitor her heart. Your doctor's recommendations for managing VCFS may include:

    • An annual cardiac ultrasound (echocardiogram) to monitor the heart and aorta
    • Monitoring of the skeletal system for abnormalities
    • Lifestyle adjustments to reduce the risk of injury to the aorta
    • Ongoing psychological counseling
    • Genetic counseling for children who reach adulthood and plan to have a family. If one parent has VCFS, there's a 50 percent chance for each child to also have the syndrome.

    What is the long-term outlook for children with VCFS?

    With the proper treatment of heart defects, immune system disorders and other health problems, the majority of children with VCFS survive and grow into adulthood. However, children with VCFS  generally need extra help throughout school and long-term care for their individual health needs. 

    Children with VCFS are at higher risk than usual for developing complex learning and behavioral problems.  Nonverbal learning disabilities, speech production problems, and behavior and mood regulation difficulties are frequently seen.  Attention and executive functioning difficulties are typically seen in children with VCFS.  They maybe at higher risk for having behaviors associated with autism spectrum disorders.  There is evidence that later in life children with VCFS have higher rates of severe mental health disorders including obsessive compulsive disorder, bipolar disorder, or schizophrenia. The occurrence of psychiatric disorders is higher for adults with VCFS, but medical researchers are still investigating the exact nature and risk of these disorders.

  • Research & Innovation

    Boston Children’s Hospital is constantly looking for ways to prevent and treat diseases and disorders, including velo-cardio-facial syndrome (VCFS).

    Research currently underway at Boston Children’s involves an investigation of genotype/phenotype correlations in VCSF:

    The purpose of this study is to determine whether variations in genes are associated with different medical conditions seen in patients with velocardiofacial/DiGeorge syndrome (VCFS/DGS). Researchers hope to understand why VCFS/DGS is so different from person to person. For patients with VCFS/DGS the study involves a review of medical, developmental and family history; a physical exam; a blood draw and taking photographs. For family members the study involves a review of medical history and a blood draw.

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