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Diseases

Genetic and Rare Diseases Information Center (GARD)

Klippel Feil syndrome


Other Names for this Disease
  • Cervical vertebral fusion
  • Congenital cervical vertebral fusion
  • Congenital fused cervical segments
  • Isolated Klippel-Feil syndrome
  • Klippel-Feil malformation
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Your Question

I am severely affected with Klippel Feil syndrome and my symptoms are worsening with time. Are there any research studies that I could participate in? I am also concerned about the risk to my future offspring. How can I learn more about this risk?

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

How might Klippel-Feil syndrome be treated?

There is no cure for Klippel Feil syndrome (KFS); treatment is generally symptomatic and supportive. Management depends on the features and severity in each person, and can be life-long. Careful evaluation, consistent follow-up, and coordination with various specialists are needed to improve outcome and make sure that no related diagnosis is missed.[1]

There are various conservative therapies available, including the use of cervical collars, braces, traction, physical therapy, non-steroidal anti-inflammatory drugs (NSAIDs), and various pain medications.[2][3] However, for many people with KFS, symptoms are progressive due to degenerative changes that occur in the spine.[1]

Surgery may be indicated for a variety of reasons, including persistent pain; neurologic deficits; cervical or craniocervical instability; constriction of the spinal cord; or to correct severe scoliosis.[2] Some people with KFS may need surgery to repair other skeletal abnormalities, or those related to the heart, kidneys, ears, eyes, or other parts of the body.[3]

Those at an increased risk for neurological complications should be regularly monitored by their health care providers and may be advised to avoid activities that could lead to trauma or injury to cervical vertebrae.[3]
Last updated: 9/30/2015

What is Klippel Feil Syndrome?

Klippel Feil syndrome (KFS) is a congenital, musculoskeletal condition characterized by the fusion of at least two vertebrae of the neck. Common symptoms include a short neck, low hairline at the back of the head, and restricted mobility of the upper spine. This condition can cause chronic headaches as well as pain in both the neck and the back. Other features may involve various other body parts or systems. Sometimes, KFS occurs as a feature of another disorder or syndrome, such as Wildervanck syndrome or hemifacial microsomia. In these cases, affected people have the features of both KFS and the additional disorder. KFS may be caused by mutations in the GDF6 or GDF3 gene and inherited in an autosomal dominant manner; or, it may be caused by mutations in the MEOX1 gene and inherited in an autosomal recessive manner. Treatment is symptomatic and may include medications, surgery, and/or physical therapy.[2][4]
Last updated: 9/10/2015

What are the signs and symptoms of Klippel Feil syndrome?

Klippel Feil syndrome is characterized by the fusion of 2 or more spinal bones in the neck (cervical vertebrae). The condition is present from birth (congenital). The 3 most common features include a low posterior hairline (at the back of the head); a short neck; and limited neck range of motion. However, not all affected people have these features.[5] This condition can cause chronic headaches as well as pain in both the neck and the back.[4]

KFS has been reported in people with a very wide variety of other conditions and abnormalities, including:[2][4][6][7][8][9][1][3]
Last updated: 9/29/2015

Is Klippel Feil syndrome inherited?

In some cases, Klippel Feil syndrome (KFS) appears to occur randomly for unknown reasons (sporadically). In other cases, the condition appears to be genetic and may occur in more than one person in a family.[3] Both autosomal dominant and autosomal recessive inheritance patterns have been reported, with different responsible genes.[4][3]

When KFS is caused by changes (mutations) in the GDF6 or GDF3 genes, it is inherited in an autosomal dominant manner.[4] This means that having a mutation in only one copy of the responsible gene is enough to cause features of the condition. When a person with an autosomal dominant condition has children, each child has a 50% (1 in 2) chance to inherit the mutated copy of the gene.

When KFS is caused by mutations in the MEOX1 gene, it is inherited in an autosomal recessive manner.[4] This means that a person must have mutations in both copies of the responsible gene to be affected. The parents of a person with an autosomal recessive condition usually each carry one mutated copy of the gene and are referred to as carriers. Carriers are typically unaffected. When two carriers of the same autosomal recessive condition have children, each child has a 25% (1 in 4) risk to be affected, a 50% (1 in 2) chance to be an unaffected carrier like each parent, and a 25% risk to be unaffected and not be a carrier.

When KFS occurs as a feature of another condition, the inheritance pattern follows that of the other condition.[4]
Last updated: 9/11/2015

Are there any research studies about Klippel Feil syndrome?

Yes. The following research laboratories are searching for genes involved in Klippel Feil syndrome. You can contact the laboratories directly to learn more about their research interests and criteria for participation.

Dr. Philip Giampietro
University of Wisconsin at Madison
Research coordinator: Sarah Sund
Telephone: 608-265-0027
Email: sund@ortho.wisc.edu

St George Hospital
Human Molecular Genetics Laboratory
Sydney, NSW, Australia
Contact: Raymond A Clarke (laboratory director)
Telephone: (+61) 2-9350-2994
Fax: (+61) 2-9350-3958
E-mail: r.clarke@unsw.edu.au  
Last updated: 9/18/2012

Are there any clinical trials enrolling patients with Klippel Feil syndrome?

The National Institutes of Health, through the National Library of Medicine, developed ClinicalTrials.gov to provide patients, family members, and members of the public with current information on clinical research studies. Although no studies involving Klippel-Feil syndrome are listed at this time, you can check this site often for updates.

You can also contact the Patient Recruitment and Public Liaison (PRPL) Office at the National Institutes of Health (NIH). We recommend calling 1-800-411-1222 to speak with a specialist, who can help you determine if you are eligible for any clinical trials. If you are located outside the United States, and would like to be contacted via telephone, you will need to contact PRPL and provide your telephone number in full, including area code and international dialing prefix.

Patient Recruitment and Public Liaison Office (PRPL)
NIH Clinical Center
Bethesda, Maryland 20892-2655
Toll-free: 1-800-411-1222
Fax: 301-480-9793
E-mail: prpl@mail.cc.nih.gov
Web site: http://clinicalcenter.nih.gov/

If you are interested in enrolling in a clinical trial, you can find helpful general information on clinical trials at the ClinicalTrials.gov Web page. Resources on many charitable or special-fare flights to research and treatment sites and low-cost hospitality accommodations for outpatients and family members, as well as ambulance services, are listed on the Web site of the Office of Rare Diseases Research (ORDR), part of the National Institutes of Health.

Last updated: 12/13/2012

Who can I talk to about my chance of passing Klippel Feil syndrome on to future children?

You may wish to discuss your concerns with a genetics professional. Genetics clinics are a source of information for individuals and families regarding genetic conditions, treatment, inheritance, and genetic risks to other family members. More information about genetic consultations is available from Genetics Home Reference at http://ghr.nlm.nih.gov/handbook/consult. To find a genetics clinic, we recommend that you contact your primary healthcare provider for a referral.

The following online resources can help you find a genetics professional in your community:

Last updated: 12/13/2012

References
Other Names for this Disease
  • Cervical vertebral fusion
  • Congenital cervical vertebral fusion
  • Congenital fused cervical segments
  • Isolated Klippel-Feil syndrome
  • Klippel-Feil malformation
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.