An Overview of Klippel-Feil Syndrome

A Condition That Causes Headaches and Limited Mobility

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Klippel-Feil syndrome (KFS) is a rare genetic bone disorder where two vertebrae in the neck are fused together from birth. Due to this fusion, patients with KFS have limited neck mobility along with neck and back pain and often chronic headaches.

The syndrome was first discovered in 1912 by French physicians Maurice Klippel and Andre Feil. It’s estimated that KFS occurs approximately in one out of 40,000 to 42,000 births, with female newborns more commonly affected than males.

Klippel-Feil Syndrome
Verywell /  Nusha Ashjaee 


The most prominent symptom of KFS is the fusion of two or more neck vertebrae. There are three subtypes of KFS which is based on where the fusion occurs. Type I is the fusion of a neck vertebrae with one in the upper back, type II (the most common form of KFS) is a fusion of the thoracic vertebrae, near the mid and upper back, and type III is a fusion of vertebrae in the neck and upper or lower back.

Depending on the severity, this may be visible on an ultrasound in the first trimester of a pregnant woman. Other prominent symptoms include a low hairline (closer to the back of the head), a short neck, and a limited range of motion with the neck. Other symptoms may present themselves due to the fusion of the vertebrae, including:

  • Torticollis (crooked neck with head and neck tipped to opposite sides)
  • Scoliosis (a curve in the spine due to fusions; approximately 30 percent of those with KFS have a skeletal abnormality)
  • Spina bifida (when the neural tube that houses the spinal cord does not fully close in utereo)
  • Webbed fingers
  • A cleft palate (when the roof of the mouth has an opening leading up to the nose; this affects approximately 17 percent of those with KFS)
  • Hearing issues or deafness due to structural problems in either the inner or outer parts of the ear; this affects 25 to 50 percent of those with KFS
  • Pain such as headaches or neck pain
  • Respiratory issues
  • Problems with the kidneys, ribs, or heart
  • Sprengel deformity (one or both shoulder blades are underdeveloped and are located higher up on the back causing shoulder weakness)


The exact cause of KFS is unknown, but researchers believe that it starts from a tissue in the embryo that doesn’t divide correctly, which would normally form separate vertebrae in the body, somewhere between weeks three and eight of gestation. Researchers have discovered there are three genes that, when mutated, are linked to KFS. They are the genes GDF6, GDF3, and MEOX1.

KFS can also be caused from another disorder, including fetal alcohol syndrome, or as a side effect to a separate congenital disease like Goldenhar disease (which affects eye, ear, and spine development), Wildervanck syndrome (which affects the bones in the eyes, neck, and ears), or hemifacial microsomia (which occurs when one side of the face is underdeveloped). The genes in these disorders become mutated which may in some cases also results in KFS.


Your doctor will monitor your baby’s growth via ultrasound, which helps with early detection of KFS and any other spinal issues related to it.

Additional testing will be required after birth, including an ultrasound of the kidneys to check for abnormalities, X-rays of the neck, spine, and shoulder bones, an MRI to see if or how KFS is affecting any of the organs in the body, genetic testing, and a hearing test to see if there is any loss as a side effect of KFS.

For certain mild cases that aren’t diagnosed at birth, testing is necessary once symptoms worsen or start surfacing.


There is no known cure for KFS and treatment plans vary based on the patient and what other symptoms or conditions they have as a response to the syndrome itself. For example, patients who have webbed fingers, a cleft palate, or issues with their heart or other organs will likely need surgery. Those who have spinal issues such as scoliosis will be directed to braces, cervical collars, and physical therapy to help stabilize the spine.

Patients who have pain as a result of KFS, whether it be chronic headaches, neck pain, or rheumatoid arthritis may also be directed to try non-steroidal anti-inflammatory drugs (NSAIDs) or other pain medications. Each treatment is specific to the patient’s needs and should be closely monitored by a physician.

Since those with KFS are also more prone to degenerative breakdown in the spine over time, it’s likely that the initial course of treatment will have to adapt over time to work with the patient’s physical health as it shifts. The same goes for any other specialists being seen for complications from KFS, such as a urologist, ophthalmologist, cardiologist, or orthopedist, to name a few.

It’s extremely important to make sure your entire medical team is aware of your comprehensive treatment plan and health so that they can monitor the proper areas closely and adjust their own course of treatment if needed to help with overall health and comfort.


With KFS, early detection is key. If diagnosed early, patients suffering from KFS can lead a normal, happy life. Addressing the specific symptoms that are associated with one’s disease is crucial—whether it be getting fitted for a hearing aid, working with a plastic surgeon to correct skeletal abnormalities, or getting on a pain management plan that helps keep them comfortable in daily life. There are also online resources to help those with KFS find information and get support, such as the Klippel-Feil Syndrome Alliance, the American Spinal Injury Association, and the American Chronic Pain Association

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Article Sources

  • Klippel-Feil syndrome. Genetics Home Reference website. Updated February 26, 2019.

  • Klippel Feil syndrome. Genetic and Rare Disease Information Center website. Updated February 1, 2019.

  • Klippel-Feil Syndrome. National Organization for Rare Disorders website. Updated 2016. 

  • Klippel-Feil Syndrome. Children’s Hospital of Philadelphia website. Updated May 2013.

  • McGaughran JM, Kuna P, Das V. Audiological abnormalities in the Klippel-Feil syndrome. Archives of Disease in Childhood 1998;79:352-355. DOI: 10.1136/adc.79.4.352.