National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Kyphoscoliotic Ehlers-Danlos syndrome


Other Names:
EDS VIA; EDS, kyphoscoliotic type; EDS, oculoscoliotic type; EDS VIA; EDS, kyphoscoliotic type; EDS, oculoscoliotic type; Ehlers-Danlos syndrome type 6A (formerly); Ehlers-Danlos syndrome, kyphoscoliotic type; Ehlers-Danlos syndrome, oculoscoliotic type; Ehlers-danlos syndrome oculoscoliotic type; EDS 6 (formerly); Ehlers-Danlos syndrome type 6 (formerly); Ehlers-Danlos syndrome type 6A; Cutis hyperelastica; kEDS-PLOD1; Kyphoscoliotic EDS due to lysyl hydroxylase 1 deficiency; Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency; Lysyl hydroxylase-deficient EDS; Ocular-scoliotic EDS; Nevo syndrome; Ehlers-Danlos syndrome, kyphoscoliosis type; Kyphoscoliotic EDS; kEDS See More
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This disease is grouped under:
Kyphoscoliotic Ehlers-Danlos syndrome is an inherited connective 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.[1][2] kyphoscoliosis EDS is caused by changes (mutations) in the PLOD1 gene or the FKBP14 gene  and it is inherited in an autosomal recessive manner.[1][3] Treatment is focused on preventing serious complications and relieving associated signs and symptoms.[1][4]
Last updated: 4/20/2017
The signs and symptoms of kyphoscoliotic EDS vary but may include:
  • Hyperextensible skin that is fragile and bruises easily
  • Joint hypermobility that leads to frequent dislocations and subluxations (partial dislocations)
  • Severe hypotonia at birth
  • Progressive kyphoscoliosis (kyphosis and scoliosis), present at birth or within the first year of life
  • Scleral fragility
  • Abnormal wound healing
  • "Marfanoid habitus" which is characterized by long, slender fingers (arachnodactyly); unusually long limbs; and a sunken chest (pectus excavatum) or protruding chest (pectus carinatum)
  • Fragile arteries that are prone to rupture
  • Delayed motor development
  • Unusually small corneas
  • Osteopenia (low bone density)
  • Congenital clubfoot
  • Cardiovascular abnormalities such as mitral valve prolapse or aortic root dilatation (enlargement of the blood vessel that distributes blood from the heart to the rest of the body)
Last updated: 4/21/2017

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

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Medical Terms Other Names
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HPO ID
80%-99% of people have these symptoms
Abnormality of metabolism/homeostasis
Laboratory abnormality
Metabolism abnormality
[ more ] 		0001939
Aortic dissection
Tear in inner wall of large artery that carries blood away from heart
0002647
Arterial dissection 0005294
Atypical scarring of skin
Atypical scarring
0000987
Gait disturbance
Abnormal gait
Abnormal walk
Impaired gait
[ more ] 		0001288
Generalized joint laxity
Hypermobility of all joints
0002761
Joint hyperflexibility
Joints move beyond expected range of motion
0005692
Kyphosis
Hunched back
Round back
[ more ] 		0002808
Mitral valve prolapse 0001634
Myopia
Close sighted
Near sighted
Near sightedness
Nearsightedness
[ more ] 		0000545
Neonatal hypotonia
Low muscle tone, in neonatal onset
0001319
Scoliosis 0002650
30%-79% of people have these symptoms
Abnormality of the hip bone
Abnormality of the hips
0003272
Glaucoma 0000501
Hyperextensible skin
Hyperelastic skin
Skin hyperelasticity
Stretchable skin
[ more ] 		0000974
Inguinal hernia 0000023
Keratoconus
Bulging cornea
0000563
Microcornea
Cornea of eye less than 10mm in diameter
0000482
Retinal detachment
Detached retina
0000541
Retinopathy
Noninflammatory retina disease
0000488
Spontaneous rupture of the globe 0010727
Subcutaneous hemorrhage
Bleeding below the skin
0001933
Visual impairment
Impaired vision
Loss of eyesight
Poor vision
[ more ] 		0000505
5%-29% of people have these symptoms
Corneal dystrophy 0001131
Talipes equinovarus
Club feet
Club foot
Clubfeet
Clubfoot
[ more ] 		0001762
Percent of people who have these symptoms is not available through HPO
Arachnodactyly
Long slender fingers
Spider fingers
[ more ] 		0001166
Arterial rupture 0025019
Autosomal recessive inheritance 0000007
Bladder diverticulum 0000015
Blindness 0000618
Blue sclerae
Whites of eyes are a bluish-gray color
0000592
Bruising susceptibility
Bruise easily
Easy bruisability
Easy bruising
[ more ] 		0000978
Congestive heart failure
Cardiac failure
Cardiac failures
Heart failure
[ more ] 		0001635
Decreased fetal movement
Less than 10 fetal movements in 12 hours
0001558
Decreased pulmonary function
Decreased lung function
Impaired lung function
[ more ] 		0005952
Dental crowding
Crowded teeth
Dental overcrowding
Overcrowding of teeth
[ more ] 		0000678
Depressed nasal bridge
Depressed bridge of nose
Flat bridge of nose
Flat nasal bridge
Flat, nasal bridge
Flattened nasal bridge
Low nasal bridge
Low nasal root
[ more ] 		0005280
Disproportionate tall stature 0001519
Epicanthus
Eye folds
Prominent eye folds
[ more ] 		0000286
Gastrointestinal hemorrhage
Gastrointestinal bleeding
0002239
Generalized hypotonia
Decreased muscle tone
Low muscle tone
[ more ] 		0001290
Joint dislocation
Joint dislocations
Recurrent joint dislocations
[ more ] 		0001373
Joint laxity
Joint instability
Lax joints
Loose-jointedness
Loosejointedness
[ more ] 		0001388
Molluscoid pseudotumors 0000993
Motor delay 0001270
Muscular hypotonia
Low or weak muscle tone
0001252
Osteoporosis 0000939
Palmoplantar cutis laxa
Excessive wrinkled skin of palms and soles
Increased wrinkles of palms and soles
Wrinkled palms and soles
Wrinkled skin of hands and feet
[ more ] 		0007517
Pes planus
Flat feet
Flat foot
[ more ] 		0001763
Premature rupture of membranes 0001788
Progressive congenital scoliosis 0008458
Recurrent pneumonia 0006532
Respiratory insufficiency
Respiratory impairment
0002093
Soft skin 0000977
Tall stature
Increased body height
0000098
Thin skin 0000963
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Last updated: 7/1/2020
Kyphoscoliotic Ehlers-Danlos syndrome (EDS) is caused by changes (mutations) in the PLOD1 gene, and, rarely, in the FKBP14 gene.[1][3] 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.[5] 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.[6]
Last updated: 4/21/2017
Kyphoscoliotic Ehlers-Danlos syndrome is inherited in an autosomal recessive manner.[1] 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: 4/21/2017
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:[1][2]
  • 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: 4/21/2017

Testing Resources

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
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.[1][4]

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: 4/21/2017
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).[4]
Last updated: 4/21/2017

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

  • ClinicalTrials.gov lists trials that are related to Kyphoscoliotic Ehlers-Danlos syndrome. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.

    Please note: Studies listed on the ClinicalTrials.gov website are listed for informational purposes only; being listed does not reflect an endorsement by GARD or the NIH. We strongly recommend that you talk with a trusted healthcare provider before choosing to participate in any clinical study.
  • The Research Portfolio Online Reporting Tool (RePORT) provides access to reports, data, and analyses of research activities at the National Institutes of Health (NIH), including information on NIH expenditures and the results of NIH-supported research. Although these projects may not conduct studies on humans, you may want to contact the investigators to learn more. To search for studies, enter the disease name in the "Text Search" box. Then click "Submit Query".

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

Social Networking Websites

  • RareConnect has an online community for patients and families with this condition so they can connect with others and share their experiences living with a rare disease. The project is a joint collaboration between EURORDIS (European Rare Disease Organisation) and NORD (National Organization for Rare Disorders).

Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.

Education Resources

  • The Genetics Education Materials for School Success (GEMSS) aims to assure that all children with genetic health conditions succeed in school-life. Their Web site offers general and condition-specific education resources to help teachers and parents better understand the needs of students who have genetic conditions.

Community Resources

  • The Job Accommodation Network (JAN) has information on workplace accommodations and disability employment issues related to this condition. JAN is a service of the Office of Disability Employment Policy in the U.S. Department of Labor.

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

  • Genetics Home Reference (GHR) contains information on Kyphoscoliotic Ehlers-Danlos syndrome. This website is maintained by the National Library of Medicine.
  • MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
  • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

In-Depth Information

  • GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
  • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
    Ehlers-Danlos Syndrome
    Genetics of Ehlers-Danlos Syndrome
  • MeSH® (Medical Subject Headings) is a terminology tool used by the National Library of Medicine. Click on the link to view information on this topic.
  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Kyphoscoliotic Ehlers-Danlos syndrome. Click on the link to view a sample search on this topic.

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.

  1. Yeowell HN, Steinmann B. Ehlers-Danlos Syndrome, Kyphoscoliotic Form. GeneReviews. January 2013; http://www.ncbi.nlm.nih.gov/books/NBK1462/.
  2. Pauker SP & Stoler J. Clinical manifestations and diagnosis of Ehlers-Danlos syndromes. UpToDate. February 22, 2016; http://www.uptodate.com/contents/clinical-manifestations-and-diagnosis-of-ehlers-danlos-syndromes.
  3. Malfait F, Francomano C, Byers P et al. The 2017 international classification of the Ehlers–Danlos syndromes. Am J Med Genet C Semin Med Genet. March, 2017; 175(1):8-26. http://onlinelibrary.wiley.com/doi/10.1002/ajmg.c.31552/full.
  4. Pauker SP & Stoler J. Overview of the management of Ehlers-Danlos syndromes. UpToDate. 2016; http://www.uptodate.com/contents/overview-of-the-management-of-ehlers-danlos-syndromes.
  5. PLOD1. Genetics Home Reference (GHR). May 2006; http://ghr.nlm.nih.gov/gene/PLOD1.
  6. FKBP14 gene. Genetics Home Reference. 2017; https://ghr.nlm.nih.gov/gene/FKBP14.