Klippel-Feil Syndrome

  • What is Klippel-Feil syndrome?

    Klippel-Feil syndrome is a rare bone disorder distinguished by the abnormal fusion of two or more bones in the neck. Children with the disorder may have a short, webbed neck, decreased range of motion in the head and neck area, and/or a low hairline at the back of the head. Most people with Klippel-Feil syndrome will only have one or two of the distinctive characteristics; fewer than half have all three. They also may have fusions in the thoracic spine causing scoliosis and/or kyphosis.

    Klippel-Feil syndrome is estimated to occur in 1 out of every 40,000 births. It was first identified in 1912 by Frenchmen Maurice Klippel and André Feil.

    Klippel-Feil syndrome forms in utero when genes GDF6 or GDF3 mutate. The condition is present at birth, but it may go undetected for years if the symptoms are slight. Some children with Klippel-Feil syndrome won’t be diagnosed with vertebral problems until an accident causes pain or worsens the symptoms.

    Klippel-Feil syndrome can occur with other syndromes such as fetal alcohol syndrome, Goldenhar syndrome, and abnormalities of the arms or legs.

  • Causes

    The exact cause of Klippel-Feil syndrome remains unknown; but researchers have linked mutations of GDF6 and GDF3 genes to the syndrome.

  • Signs and symptoms

    Symptoms of Klippel-Feil syndrome can include:

    • Fusion of two or more spinal bones in the neck
    • Short neck and low hairline
    • Torticollis, also called twisted or crooked neck, where the head is tipped to one side and the chin is turned to the other
    • Congenital scoliosis, a curvature of the spine caused by congenital fusions
    • Spina bifida, a congenital disorder caused by the incomplete closing in utero of the neural tube which encases the spinal cord
    • Kidney, rib and heart malformations
    • Respiratory problems
    • Neurological deficits
    • Syndactyly (webbed fingers) and hypoplastic thumb (abnormality of the thumb)
    • A condition called synkinesia — or mirror movement — where movement in one hand involuntarily mimics the deliberate movement of the other hand
    • Sprengel's deformity, where the scapulae (shoulder blades) are underdeveloped and sit high on the back causing weakness of the shoulders
    • Cleft palate
    • Hearing issues
    • Pain
  • Testing and diagnosis

    Diagnostic evaluation begins with a thorough medical history and physical examination of your child. At The Children’s Hospital of Philadelphia, clinical experts use a variety of diagnostic tests to diagnose Klippel-Feil syndrome and possible complications, including:

    • X-rays, which produce images of bones of the neck, spine, and scapula (shoulder blades).
    • Magnetic resonance imaging (MRI), which uses a combination of large magnets, radiofrequencies and a computer to produce detailed images of organs and structures within the body.
    • Computed tomography (CT) scan, which uses a combination of X-rays and computer technology to produce cross-sectional images ("slices") of the body.
    • Genetic testing, in which a sample of your child’s saliva is used to identify your child’s DNA.
    • EOS imaging, an imaging technology that creates 3-dimensional models from two planar images. Unlike a CT scan, EOS images are taken while the child is in an upright or standing position, enabling improved diagnosis due to weight-bearing positioning.

    Children with Klippel-Feil syndrome may have other health issues too, such as kidney, heart or lung problems. This is because the child’s organs may have experienced disrupted development in utero.

    Therefore, an ultrasound — using high-frequency sound waves to create an image like those taken during pregnancy of the developing baby — also may be conducted on your child’s organs to detect any anomalies. Additional tests that may be needed include cardiac evaluation and hearing tests.

    All of these medical tests allow clinicians to gather a full picture of your child’s medical health and help in determining an individualized care plan.

  • Treatments

    There is no cure for Klippel-Feil syndrome. Treatment is ordered when certain issues — such as spinal curvatures, muscle weaknesses or heart problems — occur and need to be treated.

    At The Children’s Hospital of Philadelphia, we practice collaborative, family-centered care. A team of expert clinicians — including leading surgeons and physicians, pediatric nurses, physical and occupational therapists, psychologists and other specialists — will partner with you in the care of your child.

    Many children with Klippel-Feil syndrome are also diagnosed with a variety of orthopedic conditions including bone fusion, scoliosis and hand anomalies. In some cases, these conditions are present at birth and can be treated when the child is young. Follow-up examinations should be done to follow growth and changes in the deformities.

    For example, a child with webbed fingers or cleft palate will likely need surgery. Orthopedic specialists from our Hand and Arm Disorders Program or plastic surgeons from the Cleft Lip and Cleft Palate Program will work with your family to create an individualized care plan for your child.

    In other cases, the complications from Klippel-Feil syndrome may only become evident — or problematic —as your child grows. This is often true for spinal deformities such as scoliosis or neck instability. Depending on your child’s needs, specialists from our Spine Program, the Neuromuscular Program or the Center for Amplified Musculoskeletal Pain Syndrome will treat your child.

    Every child’s condition is different, so treatment is determined on a case-by-case basis. For example, if your child has scoliosis, our team of spine specialists will consider the severity of the spinal curve, where it occurs in the spine, and your child's age and stage of growth, before determining the best course of action.

    Treatment may include non-surgical options such as bracing and physical therapy, or surgical options such as spinal fusion or implanting growing rods to stabilize your child’s spine as she continues to grow.

  • Follow-up care

    Your child with Klippel-Feil syndrome should continue to be monitored by an orthopedic physician into adulthood.

    If your child had spine surgery, he or she will need to see the orthopedic surgeon about one to two weeks after surgery, then again at three and six months post-surgery. After that, annual monitoring by trained clinicians is strongly encouraged to ensure any problems are spotted and treated as soon as possible.

    Additionally, physicians may recommend your child see several different specialists because other body systems may be affected by Klippel-Feil syndrome.

    For example, your child may see:

    • An orthopedist for any bone- and muscle-related issues
    • A pulmonologist for any breathing issues
    • A plastic surgeon for any craniofacial anomalies
    • A cardiologist for any heart abnormalities
    • A urologist for any kidney or bladder issues
    • An audiologist for any hearing issues
    • An ophthalmologist for any vision or eye issues
    • Physical therapists and occupational therapists to expand your child’s physical dexterity and skill

    During follow-up visits, X-rays and other diagnostic testing may be done. The goal of continued monitoring is to help spot any irregularities in growth or development and to address health issues as they develop.

    Follow-up care and ongoing support and services are available at our Main Campus and throughout our CHOP Care Network. Our team is committed to partnering with parents and referring physicians to provide the most current, comprehensive and specialized care possible for your child.

  • Outlook

    The prognosis for most children with Klippel-Feil syndrome is good if the condition is diagnosed early in life. Continued monitoring for complications and treatment — as needed — are important to successful long-term outcomes for individuals with Klippel-Feil syndrome.

    Reviewed by: Denis S. Drummond, MD
    Date: May 2013