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Which are the causes of Klippel-Feil Syndrome?
Causes of Klippel-Feil Syndrome explained: genetic and environmental factors, reviewed against medical sources, plus patient perspectives.
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.
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
