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.
The exact cause of Klippel-Feil syndrome remains unknown; but researchers have linked mutations of GDF6 and GDF3 genes to the syndrome.
Symptoms of Klippel-Feil syndrome can include:
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:
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.
There is no cure for Kilppel-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 orthopedic 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 specialists will consider the severity of the 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.
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:
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.
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.
To make an appointment with the Division of Orthopedic Surgery at The Children's Hospital of Philadelphia, call 215-590-1527 or contact us online.
Reviewed by: Denis S. Drummond, MD
Date: May 2013