Klippel-Fiel Syndrome

Klippel–Feil syndrome is a very rare disease. It was reported for the first time in 1912 by Maurice Klippel and Andre Feil. It has been characterized by the fusion of any 2 of the 7 cervical vertebrae. The syndrome occurs in a heterogeneous group of patients unified only by the presence of a defect in the formation or segmentation of the spine. Klippel–Feil syndrome can be identified by shortness of the neck. Those with the syndrome have a very low hairline and the ability of the neck to move is limited or none.

Some symptoms include:

• Scoliosis, which is a side-to-side curve of the spine, which is abnormal. The spine sometimes appears as a “C” or an “S”.
• Spina bifida is when the spinal canal and the backbone do not close completely during birth.
• Cleft Palate, which is a hole in the roof of the mouth
• Respiratory problems
• Heart malformations
• Short stature

The actual prevalence of Klippel-Feil syndrome is unknown due to the fact that there was no study done to determine the true prevalence.

Although the actual occurrence of the KFS syndrome is unknown, it is estimated to occur in 1 in 42,000 newborns worldwide. In addition, females seem to be affected slightly more often than males Treatment for Klippel–Feil syndrome is symptomatic and may include surgery to relieve cervical or craniocervical instability and constriction of the spinal cord, and to correct scoliosis. The heterogeneity of this syndrome has made it difficult to outline the diagnosis as well as the prognosis classes for this disease.

Because of this, it has complicated the exact explanation of the genetic etiology of the syndrome. The prognosis for most individuals is good if the disorder is treated early on and appropriately. Activities that can injure the neck should be avoided, as it may contribute to further damage. Other diseases associated with the syndrome can be fatal if not treated, or if found too late to be treatable. Although, surgery is an option it’s not highly recommended.

My sister suffers from this disorder; therefore I see it every day. Surgery was given to my mother as an option but there were far worse side effects to the aftermath of the surgery than just living with the disorder for the rest of her life. She didn’t choose to have surgery because either it would have paralyzed her or could have possibly killed her. The disorder has affected her by not allowing her to use her neck at all, which makes it very difficult for her to do the things that we can.