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ORPHA:536545

Kyphoscoliotic Ehlers-Danlos syndrome

medium confidenceDisorder

Also known as: Ehlers-Danlos syndrome type 6 · Kyphoscoliotic EDS · kEDS · EDS VI

Publications

230

63.1th percentile

Trials

1

Interventional, condition-specific

Researchers

1,074

Distinct authors in sample

Gene link

—

Readiness

3/6

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.

Orphanet entry

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.”

3/6 stages with a signal

An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.

  1. Gene identifiedNot found

    No GenCC disease–gene assertion in this build

  2. LiteraturePresent

    230 matched papers (146 in last 10 years) Source

  3. Phenotype characterisedPresent

    65 HPO annotations (e.g. Hypotonia; Joint hypermobility; Fragile skin) Source

  4. Animal modelNot found

    No Alliance genotype “model of” associations via Monarch for these Mondo IDs

  5. Orphan designationNot found

    No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source

  6. 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)

65

Associated phenotypes · MONDO:0034024

  • Hypotonia
  • Joint hypermobility
  • Fragile skin
  • Delayed gross motor development
  • Congenital kyphoscoliosis

Showing 5 of 65 — open Monarch for the full list.

Animal models (Monarch / Alliance)

None returned for this Mondo ID. Empty here is not proof that no model organism work exists under another name or gene.

Monarch fetch 2026-07-29

Therapies

Designations, candidates, and chemicals

FDA OOPD and EMA orphan designations, Open Targets clinical candidates, and CTD chemical associations via MyDisease.info. These never change the interventional-trial headline.

Orphan designation (FDA · EMA)

No designation matched this disease via UMLS or preferred name on the FDA OOPD mirror or EMA orphan register. Absence here is not proof that none exists under another wording.

Open Targets candidates

No drugs or clinical candidates returned for this Mondo ID on Open Targets.

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

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=3967) is 59.

230 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 59 (publications denominator n=3967).

146 in the last 10 years · medium confidence · 63.1th percentile (publications denominator)

Phrase hits: 230 · MeSH hits: 0

Open Europe PMC search

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.

  1. 01
    Giunta C14 papers · 2024

    Division of Metabolism, Connective Tissue Unit and Children's Research Center, University Children's Hospital, Zurich, Switzerland.

    Papers in Europe PMC
  2. 02
    Malfait F11 papers · 2022

    Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.

    Papers in Europe PMC
  3. 03
    Steinmann B11 papers · 2016

    Division of Metabolism, Connective Tissue Unit and Children's Research Center, University Children's Hospital, Zurich, Switzerland.

    Papers in Europe PMC
  4. 04
    Yeowell HN11 papers · 2011

    Department of Medicine, Duke University Medical Center, Durham, NC 27710.

    Papers in Europe PMC
  5. 05
    Rohrbach M10 papers · 2024

    Division of Metabolism, Connective Tissue Unit and Children's Research Center, University Children's Hospital, Zurich, Switzerland.

    Papers in Europe PMC
  6. 06
    Walker LC9 papers · 2011

    Division of Dermatology, Duke University Medical Ctr, Durham, NC, USA.

    Papers in Europe PMC
  7. 07
    Castori 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
  8. 08
    Colombi 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
  9. 09
    Ritelli M6 papers · 2024

    Division of Biology and Genetics, Department of Molecular and Translational Medicine, University of Brescia, 25121 Brescia, Italy.

    Papers in Europe PMC
  10. 10
    Syx 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 11 September 2026

1 interventional trial — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 80.1th percentile).

medium confidence · 80.1th 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.

Other registries (secondary)

Broader net from EU CTIS, ISRCTN, and ICTRP when available — deduped against ClinicalTrials.gov IDs already counted above. Dual-model LLM relevance gates what we keep. These rows are not added to the interventional headline.

raw 5 · after dedupe 5 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 5 · dropped 0 · fetched 2026-07-30

Source notes: ictrp: Error: ICTRP public search unavailable (WHO portal is SPA-only; SOAP needs partnership). Tried: https://apps.who.int/tri

No secondary-registry studies passed dual-model relevance for this condition name (after dedupe).

Uncertain / not reviewed (5)

Where to find support

Condition-specific patient organisations, when Orphanet lists them, are on the disease’s Orphanet page. We also link umbrella groups that support undiagnosed and ultra-rare families.

Orphanet entry for Kyphoscoliotic Ehlers-Danlos syndrome — check Associations / patient organisations on that page.

India — NPRD

Last verified 2026-07-26

This 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"

Run this search on Europe PMC

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