ORPHA:536545
Kyphoscoliotic Ehlers-Danlos syndrome
Also known as: Ehlers-Danlos syndrome type 6 · Kyphoscoliotic EDS · kEDS · EDS VI
Publications
230
73.4th percentile
Trials
1
Interventional, condition-specific
Researchers
1,074
Distinct authors in sample
Gene link
—
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare systemic disease for which two subtypes exist, either related to the gene PLOD1 or FKBP22, and for which the clinically overlapping characteristics include muscle , or early-onset kyphoscoliosis ( or non-), and generalized joint hypermobility with dislocations/subluxations (in particular of the shoulders, hips, and knees). Additional features which may occur in both subtypes are skin hyperextensibility, easy bruising of the skin, rupture/aneurysm of a medium-sized artery, osteopenia/osteoporosis, blue sclerae, umbilical or inguinal hernia, chest deformity, marfanoid habitus, talipes equinovarus, and refractive errors. Gene-specific features, with variable presentation, are additionally observed in each subtype.
How rare: How common this is has not been clearly measured.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
Additional Mondo synonyms (1)
kyphoscoliotic EDS
Research stages
Trial readiness signals
Where this condition sits on an open-data research pipeline — not how close a treatment is, and not medical advice. Empty stages often mean “not in these databases under this Mondo ID,” not “impossible.”
2/6 stages with a signal
An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
230 matched papers (146 in last 10 years) Source
- Phenotype characterisedNot checked
Not yet enriched from Monarch / HPO
- Animal modelNot checked
Not yet enriched from Monarch / Alliance
- Orphan designationNot checked
FDA/EMA orphan-drug designation not enriched yet
- Interventional trialPresent
1 matched on ClinicalTrials.gov
Biology
Genes and phenotypes
Gene–disease validity from GenCC, plus phenotypes and animal models joined from Monarch Initiative via Mondo ID — not a clinical diagnosis aid.
Do we know what causes it?
Not yet — the cause hasn't been pinned down in GenCC.
No strong gene–disease assertion joined for this Orphanet entity.
Phenotypes (Monarch / HPO)
Not enriched in this build — Monarch phenotype joins were not run for this record.
Animal models (Monarch / Alliance)
Not enriched in this build.
Literature
Is anyone studying this?
230
230 papers have ever been published on this condition (under this name). For scale, breast cancer has over 700,000. Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.
230 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 41 (publications denominator n=5449).
146 in the last 10 years · medium confidence · 73.4th percentile (publications denominator)
Phrase hits: 230 · MeSH hits: 0
Who's working on it?
1,074
Distinct author names in 200 sampled papers — named people below.
Who's working on it?
People publishing on this condition (sampled Europe PMC records). Affiliation is the most recent found in that sample.
- 01Giunta C14 papers · 2024
Division of Metabolism, Connective Tissue Unit and Children's Research Center, University Children's Hospital, Zurich, Switzerland.
Papers in Europe PMC - 02Malfait F11 papers · 2022
Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.
Papers in Europe PMC - 03Steinmann B11 papers · 2016
Division of Metabolism, Connective Tissue Unit and Children's Research Center, University Children's Hospital, Zurich, Switzerland.
Papers in Europe PMC - 04Yeowell HN11 papers · 2011
Department of Medicine, Duke University Medical Center, Durham, NC 27710.
Papers in Europe PMC - 05Rohrbach M10 papers · 2024
Division of Metabolism, Connective Tissue Unit and Children's Research Center, University Children's Hospital, Zurich, Switzerland.
Papers in Europe PMC - 06Walker LC9 papers · 2011
Division of Dermatology, Duke University Medical Ctr, Durham, NC, USA.
Papers in Europe PMC - 07Castori M6 papers · 2025
Division of Medical Genetics, Department of Molecular Medicine, San Camillo-Forlanini Hospital, Sapienza University, Circonvallazione Gianicolense, 87, 00152 Rome, Italy.
Papers in Europe PMC - 08Colombi M6 papers · 2024
Division of Biology and Genetics, Department of Molecular and Translational Medicine, University of Brescia, 25121 Brescia, Italy. marina.colombi@unibs.it.
Papers in Europe PMC - 09Ritelli M6 papers · 2024
Division of Biology and Genetics, Department of Molecular and Translational Medicine, University of Brescia, 25121 Brescia, Italy.
Papers in Europe PMC - 10Syx D6 papers · 2022
Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
1
interventional trials for this specific condition
1 interventional trial matched this specific condition name; none in our sample are currently recruiting.
Data as of 27 July 2026
1 interventional trial — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 76.8th percentile).
medium confidence · 76.8th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
1 interventional trials matched after quoted-phrase search and title/condition post-filter.
No currently recruiting studies in the matched set. Open the same search on ClinicalTrials.gov.
Where to find support
We do not yet link condition-specific patient organisations. These umbrella groups support undiagnosed and ultra-rare families:
India — NPRD
Last verified 2026-07-26This ORPHAcode is not on our curated NPRD list (direct or Mondo-parent match). That does not decide clinical eligibility; families in India should ask a notified Centre of Excellence about current coverage.
Hand-curated for this project. ORPHAcode mappings are best-effort and may be incomplete or imprecise for umbrella categories. Parent (Mondo) matches mean the policy lists a broader category — confirm eligibility with a Centre of Excellence. Financial entitlements summarised from public policy statements and may change. This is not official government guidance.
How we counted this
Europe PMC query (preferred label + any corrected label + Orphanet and Mondo exact synonyms, stoplisted; unioned with resolved MeSH labels when available). UMLS / OMIM / NCIT cross-references are stored on the overview but are not added to the query string.
"Kyphoscoliotic Ehlers-Danlos syndrome" OR "Ehlers-Danlos syndrome type 6" OR "Kyphoscoliotic EDS" OR "EDS VI"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Kyphoscoliotic Ehlers-Danlos syndrome" OR "Ehlers-Danlos syndrome type 6" OR "Kyphoscoliotic EDS" OR "EDS VI"
Interventional trials matched via: phrase (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).
Study-type breakdown: 1 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: ok — strategies attempted: phrase; with hits: phrase
Run this search on ClinicalTrials.gov
Synonyms dropped by stoplist: kEDS
Confidence reasoning
- Preferred label is multi-word and distinctive
- 1 synonym(s) dropped by stoplist (may under-count)
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-27T18:10:55.914Z