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Klippel-Feil syndrome is a rare disorder in which any of the 7 neck vertebra (usually 2) are fused together. It is a congenital disorder, which means it's present at birth and most likely occurred while the individual was still a fetus or embryo.
Signs include a short, webbed neck, low hairline at the back of the head, and restricted mobility of the neck. Note that not everyone with it has all three symptoms, usually 1 or two are present. Individuals may also have other conditions found in the area of the body, like Sprengel's shoulder, when one shoulder blade is slightly higher than the other.
KFS can also have impacts on other areas of the body, like heart defects and kidney problems. Because KF involves vertebra, it can also have damage to the central nervous system, like brain abnormalities. Despite these problems, having KFS is usually not fatal. It is indeed a rare condition, thought to occur in 1 out of 40,000-45,000 babies born worldwide, but this isn't certain and the disease's true prevalence remains largely unknown.
Source: Myself (I have KFS myself, and have largely no difficulties.)
More mildly affected individuals will require no treatment. Other individuals may need surgery to improve cervical stability, correct scoliosis, and improve any constriction of the spinal cord.
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Is Klippel-Feil syndrome affected by ethnicity?
no
Is Klippel-Feil syndrome the same as torticollis?
No
Is their another name for klippel feil syndrome?
mucopolysaccharidosis
What features of Klippel Feil syndrome make diagnosis difficult?
Many individuals with Klippel Feil syndrome have no symptoms. Individuals who have more minimal degrees of fusion can live completely normally and partake in all
What is the cause of Klippel Feil syndrome?
Klippel Feil syndrome is believed to occur during very early fetal development, when the cervical vertebrae do not segment normally. The exact mechanism that causes the defect is unkown
What is the prognosis for people with Klippel Feil syndrome?
The prognosis is excellent for very mildly affected people with Klippel Feil syndrome. With careful medical attention, the prognosis can be good for more severely affected individuals as well.
With what other associated abnormalities can Klippel Feil syndrome occur?
Klippel Feil syndrome can occur in association with scoliosis, spina bifida, cleft palate and defects involving the urinary tract, kidneys, heart, brain, and skeleton
What are the physical characteristics typical of people with Klippel Feil syndrome?
People with Klippel Feil syndrome are often identified due to three major characteristics: a short neck, a low hairline, and restricted neck mobility due to the fused cervical vertebrae.
What are long-term risks of Klippel Feil syndrome?
A full 30-40% of all individuals with Klippel Feil syndrome will have significant structural abnormalities of their urinary tract. These often lead to chronic kidney infections (pyelonephritis), and a high risk of kidney failure
Klippel-Feil syndrome and am pregnant can you find out if your child will have this?
after it is born you can take it to a orthapedic specialist for children and they will do a x ray and will be able to tell if the vertebrae are fused or not.
What types of professionals assist in the treatment of Klippel Feil syndrome?
In more mildly affected individuals, a pediatrician and orthopedic surgeon may collaborate to achieve a diagnosis. In more severely affected individuals, a neurologist or neurosurgeon may need to be involved as well.
What are charcteristics of the three basic types of Klippel Feil syndrome?
In type I, all of the cervical and upper thoracic vertebrae are fused together into one block. In type II, one or two pairs of cervical vertebrae are fused together. In type III, there is lower thoracic or lumbar fusion
