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Genetic and Rare Diseases Information Center (GARD)

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Klippel Feil syndrome


Other Names for this Disease

  • Cervical vertebral fusion
  • Cervical vertebral fusion autosomal dominant
  • Cervical vertebral fusion autosomal recessive
  • Klippel Feil syndrome autosomal dominant
  • Klippel Feil syndrome autosomal recessive
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.

What is Klippel Feil Syndrome?

Klippel Feil syndrome is a musculoskeletal disorder that is present from birth. It is characterized by the fusion of at least two vertebrae of the neck. Most cases are sporadic but in some cases, it can be inherited in an autosomal dominant or autosomal recessive fashion. Common symptoms of Klippel Feil syndrome include short neck, low hairline at the back of the head, and restricted mobility of the upper spine.[1]
Last updated: 7/26/2013

What are the symptoms of Klippel Feil syndrome?

Symptoms of Klippel Feil syndrome include short neck, low hairline at the back of the head, and restricted mobility of the upper spine. Other symptoms that occur in some patients include curvature of the spine, spina bifida, kidney abnormalities, rib abnormalities, cleft palate, respiratory problems, and heart malformations. The disorder may also be associated with abnormalities of the head and face, skeleton, sex organs, muscles, brain and spinal cord, arms, legs, and fingers.[1]
Last updated: 7/26/2013

Is Klippel Feil syndrome genetic?

Most cases of Klippel Feil syndrome are sporadic, however both autosomal dominant and autosomal recessive inheritance have been reported.[2]

Klippel Feil syndrome has also been associated with an inversion of chromosome 8q22. An inversion occurs when a portion of a chromosome has broken off, turned upside down and reattached.[2] Click here to read about chromosomes and chromosome abnormalities in general.
Last updated: 7/26/2013

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
  • Cervical vertebral fusion autosomal dominant
  • Cervical vertebral fusion autosomal recessive
  • Klippel Feil syndrome autosomal dominant
  • Klippel Feil syndrome autosomal recessive
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.