Klippel Feil syndrome

What causes Klippel Feil syndrome (KFS)?

The exact underlying causes and mechanisms of KFS are not well understood. In general, medical researchers believe KFS happens when the tissue of the embryo that normally develops into separate vertebrae does not divide correctly.

Isolated KFS (meaning not associated with another syndrome) can be sporadic or inherited. Although KFS may in some cases be caused by a combination of genetic and environmental factors, mutations in at least three genes have been linked to KFS: GDF6 ,GDF3 and MEOX1.

When Klippel-Feil syndrome is a feature of another disorder, such as fetal alcohol syndrome, Goldenhar syndrome, Wildervanck syndrome or hemifacial microsomia, among others, it is caused by mutations in genes involved in the other disorder.

Last updated on 05-01-20

How is Klippel Feil syndrome diagnosed?

KFS is typically diagnosed when X-rays or other imaging techniques show fusion of cervical vertebrae. X-rays of the entire spine should be performed to detect other spinal abnormalities, and additional imaging studies may be needed to assess the extent of the abnormality.

KFS can be associated with a wide range of other abnormalities involving many parts of the body. Therefore, other initial exams are needed to detect additional physical abnormalities or underlying conditions. These include:

  • examination of the chest to rule out involvement of the heart and lungs
  • examination of the chest wall to detect possible rib anomalies
  • MRI for spinal stenosis or neurological deficits
  • ultrasound of the kidneys for renal abnormalities
  • hearing evaluation due to high incidence of hearing loss
  • various lab tests to assess organ function

Additional tests or consultations with specialists may be recommended depending on the features present in each person with KFS.

Last updated on 05-01-20

Is Klippel Feil syndrome inherited?

In some cases, 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. Both autosomal dominant and autosomal recessive inheritance patterns have been reported, with different responsible genes.

When KFS is caused by 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 usually 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.

Last updated on 05-01-20

What is the long-term outlook for people with Klippel Feil syndrome?

The long-term outlook (prognosis) for people with Klippel Feil syndrome varies depending on the specific features and severity in each affected person. While all affected people have fusion of at least two vertebrae of the neck, additional signs and symptoms (if present) can vary greatly. In general, people with minimal involvement can lead normal, active lives and may have no significant restrictions or symptoms. People with additional abnormalities and/or severe forms of the condition may require careful and routine follow-up, but can have a good prognosis if symptoms and complications are treated early.

Last updated on 05-01-20

How might Klippel-Feil syndrome be treated?

There is no cure for 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.

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.

Last updated on 05-01-20

Name: American Chronic Pain Association (ACPA) P.O. Box 850
Rocklin, CA, 95677-0850 , United States
Phone: 916-632-0922 Toll Free: 800-533-3231 Fax : 916-652-8190 Email: ACPA@theacpa.org Url: https://theacpa.org/

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The RareGuru disease database is regularly updated using data generously provided by GARD, the United States Genetic and Rare Disease Information Center.

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