Velo-Cardio-Facial Syndrome (VCFS) in Children

  • 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

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