Kyphoscoliotic Ehlers-Danlos syndrome

What causes kyphoscoliotic Ehlers-Danlos syndrome?

Kyphoscoliotic Ehlers-Danlos syndrome (EDS) is caused by changes (mutations) in the 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.

Last updated on 05-01-20

How is kyphoscoliotic Ehlers-Danlos syndrome (kEDS) diagnosed?

A diagnosis of kyphoscoliotic Ehlers-Danlos syndrome (kEDS) is typically based on the presence of characteristic signs and symptoms. The following tests may then be recommended to confirm the diagnosis:

  • Urine tests and/or a skin biopsy to detect deficiencies in certain enzymes that are important for collagen formation
  • Genetic testing for changes (mutations) in the PLOD1 gene or in the FKBP14 gene.

Last updated on 05-01-20

How is kyphoscoliotic Ehlers-Danlos syndrome inherited?

Kyphoscoliotic Ehlers-Danlos syndrome is inherited in an autosomal recessive manner. This means that to be affected, a person must have a mutation in both copies of the responsible gene in each cell. The parents of an affected person usually each carry one mutated copy of the gene and are referred to as carriers. Carriers typically do not show signs or symptoms of the condition. When two carriers of an autosomal recessive condition have children, each child has a 25% chance to have the condition, a 50% chance to be a carrier like each of the parents, and a 25% chance to not have the condition and not be a carrier.

Last updated on 05-01-20

What is the long-term outlook for people with kyphoscoliotic Ehlers-Danlos syndrome?

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).

Last updated on 05-01-20

How might kyphoscoliotic Ehlers-Danlos syndrome be treated?

The treatment of kyphoscoliotic Ehlers-Danlos syndrome is focused on preventing serious complications and relieving signs and symptoms. For example, physical therapy may be recommended in children with hypotonia and delayed motor development. This treatment can also help improve joint stability. Assistive devices such as braces may be necessary depending on the severity of joint instability. Depending on the severity of the kyphoscoliosis (kyphosis and scoliosis), surgery may be necessary. Because kyphoscoliotic EDS is associated with fragile skin with abnormal wound healing, affected people, especially children, may need to wear protective bandages or pads over exposed areas, such as the knees, shins, and forehead. Regular follow-up may be recommended to check for development or progression of abnormalities of the eyes, heart, and other parts of the body.

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.

Last updated on 05-01-20

Name: Ehlers-Danlos Society PO Box 87463
Montgomery Village, MD, 20886, United States
Phone: 410-670-7577 Email: info@ehlers-danlos.com Url: https://www.ehlers-danlos.com/eds-helpline/ https://www.ehlers-danlos.com/
Name: Ehlers-Danlos Support UK PO Box 748
Borehamwood , WD6 9HU, United Kingdom
Phone: 0208 736 5604 Toll Free: 0800 907 8518 (in the UK) Email: director@ehlers-danlos.org Url: https://www.ehlers-danlos.org/
Name: The Zebra Network 1122 Kenilworth Drive Suite 307
Towson, MD, 21204,
Phone: 410-825-0995 Email: victoria@thezebranetwork.org Url: http://thezebranetwork.org/
Name: The Ehlers-Danlos Society – Europe Office Office 7 35-37 Ludgate Hill
London, EC4M 7JN, United Kingdom
Phone: +44 203 887 6132 Email: info@ehlers-danlos.com Url: https://www.ehlers-danlos.com/eds-helpline/ https://www.ehlers-danlos.com/

Connect with other users with Kyphoscoliotic Ehlers-Danlos syndrome on the RareGuru app

Do you have information about a disease, disorder, or syndrome? Want to suggest a symptom?
Please send suggestions to RareGuru!

The RareGuru disease database is regularly updated using data generously provided by GARD, the United States Genetic and Rare Disease Information Center.

People Using the App

Join the RareGuru Community

To connect, share, empower and heal today.

People Using the App