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Klippel Feil syndrome pictures

Klippel Feil syndrome is the abnormal fusion of two or more spinal bones in the neck. It affects one out of 40,000 births.


Klippel Feil syndrome is named after the people who first identified the rare bone disorder; Maurice Klippel and André Feil. (1, 2)

Klippel Feil syndrome pictures An image of a child with Klippel Feil syndrome.imagepicture 1: An image of a child with Klippel Feil syndrome.

image source: upload.wikimedia.org

Causes

The exact cause of Klippel Feil syndrome is unknown, but it is linked with GDF6 and GDF3 genes mutation. (2)

Klippel Feil syndrome pictures A child with a severe cervical fusion in Klippel Feil syndrome.picturepicture 2: A child with a severe cervical fusion in Klippel Feil syndrome.

photo source: syndromespedia.com

Klippel Feil syndrome pictures A case of Klippel Feil syndrome in adults.photopicture 3: A case of Klippel Feil syndrome in adults.

image source: www.japi.org

Klippel Feil syndrome pictures A patient with classic signs of Klippel Feil syndrome.picturepicture 4: A patient with classic signs of Klippel Feil syndrome.

photo source: syndromespedia.com

Klippel Feil syndrome symptoms

Klippel Feil syndrome triad symptoms include short, webbed neck, low hairline at the back of the head, and reduced range of motion in the head and neck area.

Other clinical manifestations are respiratory problems, an abnormal curvature of the spine due to congenital fusions, spina bifida (incomplete closure of the neural tube), neurological deficit, and malformation of the kidneys, heart, and ribs. Some patients may have hearing difficulties and clef palate. (2, 3, and 4)

Klippel Feil syndrome pictures A boy with Klippel Feil syndrome triad and an x-ray film of the condition.picture 5: A boy with Klippel Feil syndrome triad and an x-ray film of the condition.

image source: image.slidesharecdn.com

Diagnosis

  • Clinical evaluation – The doctor will thoroughly check the patient for any signs and symptoms indicating Klippel Feil syndrome. (4)
  • MRI (Magnetic Resonance Imaging) – it is done to characterize the open spaces between the vertebrae. It also detects the extent of abnormal vertebral fusion an impingement of the vertebrae in the spinal cord. (5)
  • Other tests and diagnostic procedures might need if the patient is manifesting other symptoms such as eye and hearing defect, congenital heart defect, and kidney abnormalities. (5)

Klippel Feil syndrome pictures An x-ray film of a patient with Klippel Feil syndrome indicating abnormal curvature of the spine.picturepicture 6: An x-ray film of a patient with Klippel Feil syndrome indicating abnormal curvature of the spine.

photo source: symptomstreatment.org

Klippel Feil syndrome pictures An overview of the spine of a patient with Klippel Feil syndrome.picturepicture 7: An overview of the spine of a patient with Klippel Feil syndrome.

image source: www.spinecenteroftexas.com

Klippel Feil syndrome treatment

There is no exact cure for Klippel Feil syndrome. The focus of care is for the symptomatic of certain medial issues. The patient is usually under the care of a team of expert clinicians such as surgeons, physicians, psychologist, and therapies.

A follow-up examination is needed because patients with Klippel Feil syndrome have bone defects, which could significantly change as they grow. Some complications of Klippel Feil syndrome may only be evident as the child grows. In fact, some complications deteriorate as the child transitions to adulthood. Examples are neck instability and scoliosis.

Health practitioners use a unique approach to treating patients because every patient’s condition is unique. The treatment is on a case to case basis. The treatment may include non-surgical intervention such as physical therapy.

Surgery might be performed if the doctor feels the need to do so. (6, 7, and 8)

Klippel Feil syndrome prognosis

The overall prognosis depends on the type of anomalies present. To avoid pitfalls, it is important to have a careful evaluation, coordination, and consistent follow-up.

Klippel Feil syndrome life expectancy is usually normal as complications of Klippel Feil syndrome are usually detected before the age of 25 and can actually be treated using the surgical and non-surgical approach. (2, 4, and 6)

References

  1. https://ghr.nlm.nih.gov/condition/klippel-feil-syndrome
  2. https://rarediseases.info.nih.gov/diseases/10280/klippel-feil-syndrome
  3. https://emedicine.medscape.com/article/1264848-overview
  4. https://en.wikipedia.org/wiki/Klippel%E2%80%93Feil_syndrome
  5. http://www.chop.edu/conditions-diseases/klippel-feil-syndrome
  6. https://www.webmd.com/children/klippel-feil-syndrome
  7. https://globalgenes.org/raredaily/klippel-feil-syndrome-alliance-launched-by-kfs-patient-advocate/
  8. https://neckandback.com/conditions/klippel-feil-syndrome-congenital-synostosis-of-cervical-vertebra/

 

 

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