Klippel-Fiel Syndrome
Klippel–Feil syndrome is a very rare disease. It was reported for the first time in 1912 by Maurice Klippel and André 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 back bone 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 for the KFS syndrome is unknown, it is estimated to occur 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
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 back bone 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 for the KFS syndrome is unknown, it is estimated to occur 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