Klippel Feil syndrome
- Cervical vertebral fusion
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
- How might Klippel-Feil syndrome be treated?
- What is Klippel Feil Syndrome?
- What are the signs and symptoms of Klippel Feil syndrome?
- Is Klippel Feil syndrome inherited?
- 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?
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. However, for many people with KFS, symptoms are progressive due to degenerative changes that occur in the spine.
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. 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.
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.
KFS has been reported in people with a very wide variety of other conditions and abnormalities, including:
- scoliosis (curvature of the spine)
- cervical dystonia (painful, involuntary tensing of the neck muscles)
- genitourinary abnormalities (those of the reproductive organs and/or urinary system, including the kidneys)
- Sprengel deformity
- cardiac (heart) defects such as ventricular septal defect
- pulmonary abnormalities (relating to the lungs) and respiratory problems
- hearing deficits
- facial asymmetry, or other abnormalities of the head and face (such as cleft palate or hemifacial microsomia)
- central nervous system abnormalities (including Chiari malformation, spina bifida, or syringomyelia), and/or neurological symptoms
- other skeletal abnormalities (including those of the ribs, limbs and/or fingers)
- situs inversus
- short stature
- synkinesia (where movement in one hand involuntarily mimics the deliberate movement of the other hand)
- Wildervank syndrome
- Duane syndrome or other eye (ocular) abnormalities
When KFS is caused by changes (mutations) in the GDF6 or GDF3 genes, it is inherited in an autosomal dominant manner. 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. 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.
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.
- Thomas R Lewis. Klippel-Feil Syndrome. Medscape Reference. January 26, 2015; http://emedicine.medscape.com/article/1264848-overview#showall.
- Klippel-Feil Syndrome Information Page. NINDS. September 16, 2011; http://www.ninds.nih.gov/disorders/klippel_feil/klippel_feil.htm.
- Klippel-Feil Syndrome. NORD. 2011; http://rarediseases.org/rare-diseases/klippel-feil-syndrome/.
- Klippel-Feil syndrome. Genetics Home Reference. June, 2015; http://ghr.nlm.nih.gov/condition/klippel-feil-syndrome.
- Dr Dino Samartzis and Francis Shen. Isolated Klippel-Feil syndrome. Orphanet. June, 2007; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2345.
- Chacón-Camacho O, Camarillo-Blancarte L, Pelaez-González H, Mendiola J, Zenteno JC. Klippel-Feil syndrome associated with situs inversus: description of a new case and exclusion of GDF1, GDF3 and GDF6 as causal genes. Eur J Med Genet. June, 2012; 55(6-7):414-417.
- Narang M, Goyal JP. Uncommon manifestations of Klippel Feil syndrome. Indian Pediatr. Match, 2006; 43(3):265-266.
- Klippel-Feil Syndrome. Children's Hospital of Philadelphia. 2015; http://www.chop.edu/conditions-diseases/klippel-feil-syndrome#.VgrDLOxViko.
- Brokinkel B., et. al. Surgical treatment in a patient with Klippel-Feil syndrome and anterior cervical meningomyelocele: a case report and review of literature. Eur Spine J. May, 2013; 22 Suppl 3:S517-520.