Klippel-Feil syndrome is a rare skeletal disease caused primarily due to the abnormal connection of two or more bones of the spinal column within the neck (cervical vertebrae).
Some of the abnormalities seen in patients affected with this syndrome are a short neck, hairline at the back of the head, restricted movement of the upper spine.
Some of the facts about Klippel-Feil syndrome are:
Fact 1: In some cases, Klippel-Feil syndrome (KFS) can be detected before birth. However, in most cases it is diagnosed after birth.
Fact 2: The actual proportion of the population suffering from this syndrome is still unknown as there have been no studies done before.
Fact 3: The first description about Klippel-Feil syndrome was given by Maurice Klippel and Andre Feil in 1912. The syndrome was named after the two doctors who first researched it.
Fact 4: The KFS syndrome occurs in 40,000 to 42,000 newborns worldwide. The syndrome is more prevalent in female children than males.
Fact 5: The treatment of KFS syndrome often includes surgical procedures to alleviate cervical defects.
Fact 6: The most common symptoms of KFS syndrome include Adjacent Segment Disease and scoliosis.
Fact 7: The genetic study shows that in most cases, mutations in the GDF6 and GDF3 genes can cause KFS syndrome.
Fact 8: People identified with KFS syndrome should avoid activities involving neck movements.
Fact 9: Other associated abnormalities of KFS syndrome are: scoliosis, cleft palate, Duane Syndrome, spina bifida, and heart malformations.
Fact 10: KFS syndrome is also known as Isolated Klippel-Feil Syndrome or congenital cervical synostosis or cervical vertebral fusion.
Fact 11: The KFS disorder may go unnoticed until later stages or when symptoms worsen if not diagnosed. The KFS syndrome may occur as an individual disorder or in association with other disorders or syndromes such as heart defects, horseshoe kidney, or structural abnormalities.