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Which are the causes of Klippel-Feil Syndrome?

See some of the causes of Klippel-Feil Syndrome according to people who have experience in Klippel-Feil Syndrome

Klippel-Feil Syndrome causes

Klippel-Feil Syndrome (KFS) is a rare congenital disorder characterized by the fusion or malformation of two or more cervical vertebrae in the neck. This condition is named after Maurice Klippel and Andre Feil, the French physicians who first described it in 1912. KFS is estimated to occur in approximately 1 in 40,000 to 42,000 live births, affecting both males and females equally.



The exact cause of Klippel-Feil Syndrome is not yet fully understood. However, researchers believe that it is primarily caused by a combination of genetic and environmental factors. Several potential causes and contributing factors have been identified:




  1. Genetic Mutations: In many cases, Klippel-Feil Syndrome is thought to be caused by genetic mutations. These mutations can occur spontaneously during fetal development or may be inherited from one or both parents. Several genes have been associated with KFS, including the GDF6, GDF3, and MEOX1 genes. Mutations in these genes can disrupt the normal development of the vertebrae, leading to fusion or malformation.


  2. Embryological Abnormalities: During embryonic development, the vertebrae form from segments called somites. Any disruption or abnormality in the segmentation process can result in the fusion or malformation of the cervical vertebrae. This can occur due to various factors, such as genetic mutations, teratogenic exposure (exposure to substances that can cause birth defects), or vascular compromise during embryogenesis.


  3. Environmental Factors: While the majority of Klippel-Feil Syndrome cases are believed to have a genetic basis, certain environmental factors may also play a role. Maternal exposure to teratogenic substances during pregnancy, such as certain medications, alcohol, or infections, has been suggested as a potential risk factor for KFS. However, more research is needed to establish a definitive link.


  4. Chromosomal Abnormalities: In some cases, Klippel-Feil Syndrome may be associated with chromosomal abnormalities. For example, individuals with Turner syndrome (a condition where one of the sex chromosomes is missing or partially missing) have an increased risk of developing KFS. Other chromosomal abnormalities, such as deletions or duplications, have also been reported in individuals with KFS.


  5. Other Syndromes and Conditions: Klippel-Feil Syndrome can occur as an isolated condition or be associated with other syndromes or conditions. It has been observed in conjunction with various genetic disorders, such as Goldenhar syndrome, Wildervanck syndrome, and VACTERL association. These syndromes often involve multiple organ systems and can further contribute to the development of KFS.



It is important to note that Klippel-Feil Syndrome is a complex disorder with a wide range of clinical manifestations and severity. The specific cause and contributing factors can vary among individuals, making it challenging to pinpoint a single underlying cause for all cases. Further research and genetic studies are necessary to gain a deeper understanding of the etiology of KFS.


Diseasemaps
4 answers
The exact underlying causes and mechanisms of Klippel-Feil Syndrome (KFS) are not well understood. In general, medical researchers believe KFS happens when the tissue of the embryo that normally develops into separate vertebrae does not divide correctly.

Isolated KFS (meaning not associated with another syndrome) can be sporadic or inherited. Although KFS may in some cases be caused by a combination of genetic and environmental factors, mutations in at least three genes have been linked to KFS: GDF6, GDF3 and MEOX1.

When Klippel-Feil Syndrome is a feature of another disorder, such as fetal alcohol syndrome, Goldenhar syndrome, Wildervanck syndrome or hemifacial microsomia, among others, it is caused by mutations in genes involved in the other disorder.

Posted Nov 13, 2017 by Tiffany 1100
It’s a congenital birth defect.

Posted Apr 27, 2019 by Heidi 1600
No clear answers. Can be a gene-defect.

Posted Jan 11, 2021 by Line 1600

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Stories of Klippel-Feil Syndrome

KLIPPEL-FEIL SYNDROME STORIES
Klippel-Feil Syndrome stories
I am 24 years old and I live in Denver, Colorado. I was diagnosed with KFS since I was 2-4 and I have bilateral hearing loss with chronic respiratory illness. I am also a medical cannibis user, which may falter my breathing, but I am an active person...
Klippel-Feil Syndrome stories
I was diagnosed with kfs type 4 as a child. It was challenging. I was never able to do sports and was always treated like glass. Which made it hard to find friends. At age 15 I underwent a 16 hour extensive surgery to save my life. After I was suppos...
Klippel-Feil Syndrome stories
Was diagnosed when he was couple days old. He had heart value that wouldn't closed and it healed on its own, he was born with multicyst kidney so he only has one kidney. Mental and development delays, 4th n 5th vertebrae infused giving him short neck...
Klippel-Feil Syndrome stories
she has been suffering tremendous pains and she hasn't find a doctor that can help her, she had a surgery but it was done wrong.  
Klippel-Feil Syndrome stories
Our daughter has Klippel-Feil c3-c6, torticoli, sleeping apnea, cervical ribs and fused ribs, spinal bifida occulta, and scoliosis which is cause by a extra vertebrae 

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