Klippel-Feil syndrome

Diagnosis and Testing

How do I get tested for Klippel-Feil syndrome?

Klippel-Feil Syndrome (KFS) is most often found through clinical examination by a doctor and medical imaging by X-ray, magnetic resonance imaging (MRI), or computed tomography (CT) that detected fused cervical vertebrae. After this initial round of examinations, doctors will confirm that diagnosis further by checking for other common symptoms of KFS in the heart, kidneys, spine, and lungs. After a thorough evaluation, genetic testing can be ordered by a genetics team to help clarify the inheritance pattern and underlying cause of the diagnosis.

After a clinical diagnosis is confirmed, genetic testing can be ordered by a genetics team to help clarify the inheritance pattern and underlying cause of the diagnosis; however, it is not needed to officially be diagnosed with KFS. In fact, many people with KFS will not have any mutations or changes found on genetic testing.

If genetic testing is ordered, it is usually done at a specialized laboratory that is familiar with the genes and syndromes that can be associated with KFS, often as part of a gene panel for skeletal changes or KFS specifically. If a KFS gene panel is ordered, the laboratory scans the "spelling" of key genes associated with KFS, like a spell check tool, and looks for spelling mistakes in the gene. Changes or mutations in genes such as the GDF6, GDF3, MEOX1, RIPPLY2, PAX1, and MYO18B genes can cause Klippel-Feil syndrome. It is important to note that since many cases of KFS are not genetic, even if a change is not found in the gene, the physical findings of KFS confirm the diagnosis.

If a gene change or mutation is found that is associated with KFS, then other family members can be tested for that single gene change as opposed to a full (and more expensive) gene panel. Some laboratories may even provide free parent testing within a certain time after the initial testing is completed.

You can find a genetic counselor and genetics team in your area to help discuss and coordinate testing by looking at the NSGC website: http://nsgc.org/p/cm/ld/fid=164.

SOURCE: Emory University - Department of Human Genetics in collaboration with ThinkGenetic • https://www.thinkgenetic.com/diseases/klippel-feil-syndrome-109938/diagnosis-testing/66929 • DATE UPDATED: 2019-07-26


Menger RP, Notarianni C. Klippel Feil Syndrome. [Updated 2018 Oct 27]. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2018 Jan-. Available from: https://www.ncbi.nlm.nih.gov/books/NBK493157/

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