Klippel-Feil Syndrome – Pictures, Symptoms, Treatment, Causes


What is Klippel-Feil Syndrome?

Klippel-Feil Syndrome is a disorder of the bone that has a characteristic of abnormal fusion of the cervical vertebrae or the spinal bones that is located in the neck region. It is present upon the person’s birth. The fusion happens in the C2 or cervical vertebrae bone number 2 and C7 or cervical vertebrae bone number 7.

It is due to the failed normal division or segmentation of the person’s cervical vertebrae which is upon the early fetal developmental stage. It occurs in a group of heterogeneous patients. With such condition, the neck and spinal movement are restricted. It is sometimes associated with abnormalities in the patient’s organ. This kind of syndrome is of rare occurrence. Its name was given in honor of the ones who discover it namely, Maurice Klippel and Andre Feil resulting to the name Klippel-Feil syndrome.

Klippel Feil Syndrome 265x300

Klippel-Feil Syndrome Showing Fusion in the Neck

Klippel-Feil Syndrome Symptoms, Signs

Patients with this kind of syndrome will manifest the following signs and symptoms:

  • Hairline at the person’s back part of the head that is low
  • Mobility is restricted in the upper portion of the spine
  • Neck is short
  • Anomalies of the ribs and kidneys
  • Malformations of the heart
  • Duane syndrome
  • Cleft palate
  • Brain abnormalities
  • Cleft palate
  • Abnormalities of the muscles
  • Synkinesia
  • Mental deficiency
  • Auditory abnormalities
  • Abnormalities of the face
  • Cervical nerve palsy
  • Sprengal anomaly
  • Ventricular septal defect
  • Deafness
  • Spina bifida
  • Scoliosis
  • Short stature
  • Problems in the respiratory system
  • Restricted movement of neck
  • Abnormalities of the finger
  • Posterior fossa dermoid cysts

Klippel-Feil Syndrome Causes & Risk Factors

The specific cause of the Klippel-Feil Syndrome is, up to this point, unknown. However, there are studies that show that it may be a mixture of spontaneous mutation and genes. The persons at risk for this kind of syndrome are commonly reported in women.

Genetics

Studies show that gene mutations in GDF3 and GDF6 are the primary cause which can lead to this kind of syndrome. This kind of gene mutations is known to provide the details for creating proteins which belongs to the protein family of morphogenetic bone. This kind of protein family involves in the maturation and growth regulation of the cartilage and bone. The cartilage, which makes the early developmental stage of the person’s skeleton, is considered to be a flexible and tough tissue.

In addition to that, this family of proteins is known to be a differentiation and growth of cell regulator in both the tissue of the adults and the embryo. Specifically, the protein GDF6 is needed for the making of the various joints and bones that are found in the person’s skull, chest, spine, ribs and limbs. It involves in the setting of boundaries in the development of the skeletal system. Meanwhile, the protein GDF3 is involved in the development of the cartilage and bone, which the specific role is still unclear.

The gene mutations in GDF3 and GDF6 that leads to the Klippel-Feil Syndrome will result to the functional reduction of the person’s protein. The protein GDF6 plays in the role of the vertebrae formation. As of the moment, there is still a vague uncertainty of why a shortage in such family of proteins will lead to the incomplete vertebrae separation.

Inherited Syndrome

Also, this kind of syndrome is known to be an inherited genetic syndrome disorder which is considered to be either autosomal recessive trait or autosomal dominant trait.

Unknown etiology

However, some persons diagnosed of having Klippel-Feil syndrome don’t have the gene mutation protein GDF3 or GDF6. These persons etiology is unknown.

Maternal alcoholism

Still there are some studies that suggest that the causes of maternal alcoholism that leads to fetal alcohol syndrome that may result to having such syndrome.

Klippel-Feil Syndrome Diagnosis

Klippel Feil Syndrome is diagnosed by the physician through doing such examinations:



  • Physical Examination
  • Medical History
  • Confirmatory Diagnostic Exams such as:
  • X-ray is to take a look at the person’s spine and neck area
  • MRI or Magnetic Resonance Imaging is done to aid in the confirmation of the presence in the abnormalities of the person’s spine
  • CT scan also is needed to diagnose this syndrome
  • Ultrasound Examination another test that diagnoses this syndrome
  • Test for the evaluation of the person’s heart and kidneys
  • Hearing Screening Examination

Klippel-Feil Syndrome Treatment

The extent and type of the abnormality or deformity is the basis of the treatment for Klippel Feil Syndrome. If you have the milder case of this kind of syndrome, you don’t need to undergo treatment and you can continue to live in a normal day to day life. However, there are others who have the severe kind of the syndrome which needs to be treatment through:

Medical Treatment

Prescription of the medical therapy is based on the abnormalities that the person possesses. If you have auditory abnormalities, you need to consult the audiologist. Or for instance, persons with cardiovascular abnormalities will need the help of the cardiologist expert for their medical therapy treatment.

Physical Treatment

This is needed in the improvement of the bodily strength and mobility. Occupational treatment is suggested to aid in the persons day to day activities even with the presence of limitations.

Surgical Treatment

It is required for this kind of syndrome. This is a progressive kind of syndrome deformity because of the abnormality fusion, surgical procedure is needed. This is kind of treatment will be needed when a person have neurologic discrepancy and pain that is relentless. Also, persons having compensatory development on the person’s thoracic spine will need bracing through surgical treatment procedure.

Klippel-Feil Syndrome Prognosis

According to the statistics gathered, persons having Klippel Feil syndrome will usually live for a maximum of 25 years of age. Yet, some of the persons with this kind of syndrome have normal prognosis or life span. The prognosis is considered good if there is only mild form of this kind of syndrome. Through medical attention done carefully or through early medical seeking behavior, the prognosis is considered good.

Klippel-Feil Syndrome Complications

Some of the persons having Klippel Feil syndrome may not manifest symptoms mentioned and may be further undiagnosed with having such syndrome disorder. While some, may have injury in the spinal cord after having trauma that is minor because of the high risk of the patterns of fusion in the cervical area.

Klippel-Feil Syndrome Prevention

There is no specific way to prevent having such rare syndrome. Perhaps, the only way, since as we have mentioned earlier that this kind of syndrome may be due to inherited genetic mutations of GDF3 and GDF6, then there is a need to have genetic counseling prior to planning to have a offspring. Also, if you are diagnosed with such condition, you can prevent further injury by undergoing surgical procedure.

Klippel-Feil Syndrome Pictures

Klippel Feil Syndrome Anterior Characteristics 243x300

A Child With Klippel-Feil Syndrome

Klippel Feil Syndrome Symptoms 173x300

Klippel-Feil Syndrome Showing Scoliosis or the Lateral Curvature of the Spine

Klippel Feil Syndrome X ray 208x300

Klippel-Feil Syndrome X-ray

Severe Cervical Fusion in Klippel Feil Syndrome 300x162

Severe Cervical Fusion in Klippel-Feil Syndrome



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2 Responses to “Klippel-Feil Syndrome – Pictures, Symptoms, Treatment, Causes”

  • Anonymous says:

    Could some of the unknown etiology cases be attributed to excess of TGIF1 which regulates the same TGFβ pathway in individuals with tetrasomy 18?

  • Natalya Panteleyeva says:

    Clarification for my comment above: “the same TGFβ pathway” as in “The GDF3 gene provides instructions for making a protein that is part of the transforming growth factor beta (TGFβ) superfamily” from http://ghr.nlm.nih.gov/gene/GDF3


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