Klippel-Feil syndrome – A Rare Disorder Of Neck Region!

Child with Klippel-Feil SyndromeA rare musculoskeletal disorder, Klippel-Feil Syndrome is characterized by abnormal fusion of the bones of spinal column known as vertebrae in the neck region (cervical vertebrae). In most of the cases, out of 7 cervical vertebrae at least 2 get fused (usually C2 & C3) resulting in short neck, restricted movement of the neck and upper back, and low hairline at the back of the head. This is considered to be a congenital (present at birth) disorder and is caused in the early stages of fetal development due to improper division of the cervical vertebrae.

The syndrome was named after Maurice Klippel and Andre Feil who described it for the first time in the year 1912.

Some other abnormalities have been associated with this disorder. These include:

  • Scoliosis or abnormal spinal curvature.
  • Skeletal malformations of the nose, ear, larynx, mouth, thorax, genital organs, face, brain and spinal cord.
  • Cleft palate (upper lip and roof of the mouth are affected).
  • Spina bifida – a condition caused by the failure of the closure of the spinal column in a fetus during the first month of pregnancy which results in incomplete and improper development of spinal cord and brain.
  • Abnormalities of the kidney such as horse-shoe kidney or absence of a kidney. Defects of urinary tract.
  • Heart disorders such as congenital heart disease.
  • Webbed fingers or toes (fusion of 2 or more fingers or toes).
  • Craniofacial (head and face) anomalies such as facial asymmetry.
  • Absence of ribs or rib defects such as development of ribs in the cervical region.
  • Mirror movements in which the patient requires the movement of his or her left hand in order to perform a right hand movement.
  • Respiratory problems.
  • Hearing impairment.

What Causes Klippel-Feil Syndrome?

This disorder may occur in association with some other syndromes or may occur individually. However, in most of the cases the condition developed randomly without any known cause. Some people may inherit the disorder in an autosomal dominant or autosomal recessive mode of inheritance. Mutations (changes in the DNA sequence) of the GDF6 gene have been identified in some patients.

Can The Disorder Be Treated?

After carrying out certain diagnostic tests (mentioned below) to confirm all the body organs and/or parts affected, treatment can vary depending on the extent of damage caused.

  • Ultrasound for urinary tract imaging to detect any problems.
  • CT scan of the skull can detect any abnormalities present.
  • Hearing assessment to rule out the possibility of hearing impairment.
  • MRI scans for the assessment of the spinal canal and spinal column abnormalities including syringomyelia.
  • Chest X-ray to detect rib fusion and abnormalities related to heart.
  • Lateral and anteroposterior views of the cervical spine can confirm fusion of the cervical vertebrae.

Children with Klippel-Feil Syndrome and other associated abnormalities can be treated to an extent by correcting the anomalies. These include:

  • Cleft palate can be surgically corrected.
  • Contact sports that can be risky to the neck region should be avoided.
  • Analgesics, cervical collar and non steroidal anti inflammatory drugs comprise the list of options for mechanical symptoms.
  • Dislocations of the vertebrae are usually treated by traction (a set of mechanisms to straighten broken bones) followed by fusion in the posterior region.
  • Surgical intervention may be needed to correct scoliosis, instability of the cervical vertebrae or craniocervical region, neurological defects and constriction of the spinal cord.
  • Some patients may require physical therapy in some of the affected areas.

If identified in its early stages of development, the disorder can be treated symptomatically.

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