KyphoscolioticEhlers-Danlos syndrome is an inheritedconnective tissue disorder that is caused by defects in a protein called collagen. Common signs and symptoms include hyperextensible skin that is fragile and bruises easily; joint hypermobility; severe hypotonia at birth; progressive kyphoscoliosis (kyphosis and scoliosis); and fragility of the sclera. kyphoscoliosis EDS is caused by changes (mutations) in the PLOD1 gene or the FKBP14 gene and it is inherited in an autosomal recessive manner. Treatment is focused on preventing serious complications and relieving associated signs and symptoms.

PLOD1 gene, and, rarely, in the FKBP14 gene. This gene gives the body instructions to make (encodes) an enzyme that helps process molecules that allow collagen to form stable interactions with one another. Collagen is a protein that provides structure and strength to connective tissues throughout the body. Mutations in the PLOD1 gene lead to reduced levels of functional enzyme which disrupt networks of collagen throughout the body. This weakens the connective tissues and leads to the characteristic signs and symptoms associated with EDS, kyphoscoliosis type. The FKBP14 gene encodes a protein which is a member of the FK506-binding protein family of peptidyl-prolyl cis-trans isomerases. The encoded protein is found in the lumen of the endoplasmic reticulum, where it is thought to accelerate protein folding. It is not known how the mutations in this gene lead to the EDS.

and not be a carrier.

GeneReview's Web site offers more specific information regarding the treatment and management of kyphoscoliotic EDS. Please click on the link to access this resource.

Please speak to your healthcare provider if you have any questions about your personal medical management plan.

The long-term outlook (prognosis) for people with kyphoscoliotic Ehlers-Danlos syndrome varies depending on the severity of the condition. The lifespan of affected people can be decreased, due to heart involvement and/or the potential for restrictive lung disease caused by severe kyphoscoliosis (kyphosis and scoliosis).