Testing and diagnosis

Diagnostic evaluation begins with a thorough medical history and physical examination of your child. At Children’s Hospital of Philadelphia (CHOP), 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 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