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Is Klippel-Feil Syndrome hereditary?
Here you can see if Klippel-Feil Syndrome can be hereditary. Do you have any genetic components? Does any member of your family have Klippel-Feil Syndrome or may be more predisposed to developing the condition?
When Klippel-Feil Syndrome is caused by mutations in the GDF6 or GDF3 genes, it is inherited in an autosomal dominate pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.
When caused by mutations in the MEOX1 gene, Klippel-Feil Syndrome is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
As a feature of another disorder, Klippel-Feil Syndrome is inherited in whatever pattern the other disorder follows.
When caused by mutations in the MEOX1 gene, Klippel-Feil Syndrome is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
As a feature of another disorder, Klippel-Feil Syndrome is inherited in whatever pattern the other disorder follows.
Posted Nov 13, 2017 by Tiffany 1100
Yes. I was the first in my family to find out I had it. Several years after my aunt and cousin were in a car accident and they found theirs. My mom’s was discovered when she was 65. They misdiagnosed it for months before they discovered hers. So even if you think you are the only one, you aren’t.
Posted Apr 27, 2019 by Heidi 1600
Yes it CAN be. But not necessarily.
Posted Jan 11, 2021 by Line 1600
