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
Your QuestionI 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?
We have identified the following information that we hope you find helpful. If you still have questions, please contact us.
Questions on this page
- What is Klippel Feil Syndrome?
- What are the symptoms of Klippel Feil syndrome?
- Is Klippel Feil syndrome genetic?
- Are there any research studies about Klippel Feil syndrome?
- Are there any clinical trials enrolling patients with Klippel Feil syndrome?
- Who can I talk to about my chance of passing Klippel Feil syndrome on to future children?
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. Click here to read about chromosomes and chromosome abnormalities in general.
Dr. Philip Giampietro
University of Wisconsin at Madison
Research coordinator: Sarah Sund
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
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
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.
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:
- GeneTests has a searchable directory of US and international genetics and prenatal diagnosis clinics.
- The National Society of Genetic Counselors provides a searchable directory of US and international genetic counseling services.
- The American College of Medical Genetics has a searchable database of US genetics clinics.
- The University of Kansas Medical Center provides a list of US and international genetic centers, clinics, and departments.
- The American Society of Human Genetics maintains a database of its members, which includes individuals who live outside of the United States. Visit the link to obtain a list of the geneticists in your country, some of whom may be researchers that do not provide medical care.
- Klippel-Feil syndrome. National Institute of Neurological Disorders and Stroke (NINDS). 2007; http://www.ninds.nih.gov/disorders/klippel_feil/klippel_feil.htm. Accessed 4/8/2008.
- Klippel-Feil syndrome, Autosomal Dominant. Online Mendelian Inheritance in Man. 2007; http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118100. Accessed 4/7/2008.