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ORPHA:1900

Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency

low confidenceSubtype of disorder

Also known as: Cutis hyperelastica · EDS VIA · Ehlers-Danlos syndrome type 6A · Kyphoscoliotic EDS due to lysyl hydroxylase 1 deficiency · Lysyl hydroxylase-deficient EDS · Ocular-scoliotic EDS · kEDS-PLOD1

Publications

3,259

Trials

1

Interventional, condition-specific

Researchers

1,247

Distinct authors in sample

Gene link

PLOD1

Definitive

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

A rare subtype of kyphoscoliotic Ehlers-Danlos syndrome characterized by muscle , or early-onset kyphoscoliosis ( or non-), and generalized joint hypermobility with dislocations/subluxations (in particular of the shoulders, hips, and knees). Additional common features 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. Subtype-specific manifestations include skin fragility, atrophic scarring, scleral/ocular fragility/rupture, microcornea, and facial dysmorphology (like low‐set ears, epicanthal folds, down‐slanting palpebral fissures, high palate). Molecular testing is obligatory to confirm the diagnosis.

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 (11)

EDS 6 · EDS, kyphoscoliotic type · EDS, oculoscoliotic type · EDS6 · Ehlers-Danlos syndrome kyphoscoliotic type · Ehlers-Danlos syndrome, kyphoscoliotic type · Ehlers-Danlos syndrome, kyphoscoliotic type 1 · Ehlers-Danlos syndrome, oculoscoliotic type · Ehlers-Danlos syndrome, type 6 · kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency · nevo syndrome

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.”

4/6 stages with a signal

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

  1. Gene identifiedPresent

    Definitive — PLOD1

  2. LiteraturePresent

    3,259 matched papers (2,209 in last 10 years) Source

  3. Phenotype characterisedPresent

    120 HPO annotations (e.g. Fragile skin; Neonatal hypotonia; Abnormal circulating enzyme concentration or activity) 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?

Yes — we know a specific gene responsible (PLOD1).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

120

Associated phenotypes · MONDO:0016002

  • Fragile skin
  • Neonatal hypotonia
  • Abnormal circulating enzyme concentration or activity
  • Joint dislocation
  • Generalized joint hypermobility

Showing 5 of 120 — 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

1

Drugs / clinical candidates · MONDO_0016002

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

3,259

3,259 papers have been published on this condition. That is a real research literature — still far smaller than common diseases (breast cancer: over 700,000 papers). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

3,259 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).

2,209 in the last 10 years · low confidence

Phrase hits: 881 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,247

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
    Liu Y5 papers · 2025

    Department of Genetics, School of Basic Medical Sciences, Tianjin Medical University, Tianjin, China.

    Papers in Europe PMC
  2. 02
    Malfait F5 papers · 2022

    Center for Medical Genetics, Ghent University Hospital, De Pintelaan 185, 9000 Gent, Belgium. Electronic address: fransiska.malfait@ugent.be.

    Papers in Europe PMC
  3. 03
    Syx D4 papers · 2022

    Center for Medical Genetics, Department of Biomolecular Medicine, Ghent University, Ghent, Belgium.

    Papers in Europe PMC
  4. 04
    Wang H4 papers · 2023

    Institute of Statistics, National Yang Ming Chiao Tung University, Hsinchu 30010, Taiwan.

    Papers in Europe PMC
  5. 05
    Zhang Y4 papers · 2024

    Division of Applied Psychology, School of Humanities and Social Science, The Chinese University of Hong Kong, Shenzhen, 518172, Guangdong, People's Republic of China.

    Papers in Europe PMC
  6. 06
    Giunta C3 papers · 2011

    Division of Metabolism & Molecular Pediatrics, University Children's Hospital, Steinwiesstrasse 75, CH-8032 Zurich, Switzerland.

    Papers in Europe PMC
  7. 07
    Rohrbach M3 papers · 2017

    Division of Metabolism, University Children's Hospital and Children's Research Centre, Zurich, Switzerland. marianne.rohrbach@kispi.uzh.ch

    Papers in Europe PMC
  8. 08
    Van Damme T3 papers · 2022

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

    Papers in Europe PMC
  9. 09
    Barbitoff YA2 papers · 2025

    Bioinformatics Institute, St. Petersburg, Russia.

    Papers in Europe PMC
  10. 10
    Belova VА2 papers · 2021

    Center for Precision Genome Editing and Genetic Technologies for Biomedicine, Pirogov Russian National Research Medical University, Moscow, 117997, Russian Federation.

    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. 42 trials are registered for Ehlers-Danlos syndrome, the broader category — shown separately because they may or may not enrol this specific subtype.

Data as of 11 September 2026 · last trial check 28 July 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).

low 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.

Broader category: Ehlers-Danlos syndrome

42

Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.

Worth raising with a clinician. How we count trials.

Recruiting under the broader category

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 22 · after dedupe 22 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 22 · dropped 0 · fetched 2026-07-29

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 (22)

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 due to lysyl hydroxylase 1 deficiency — 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 due to lysyl hydroxylase 1 deficiency" OR "Cutis hyperelastica" OR "EDS VIA" OR "Ehlers-Danlos syndrome type 6A" OR "Kyphoscoliotic EDS due to lysyl hydroxylase 1 deficiency" OR "Lysyl hydroxylase-deficient EDS" OR "Ocular-scoliotic EDS" OR "kEDS-PLOD1" OR "EDS 6" OR "EDS, kyphoscoliotic type" OR "EDS, oculoscoliotic type" OR "Ehlers-Danlos syndrome kyphoscoliotic type" OR "Ehlers-Danlos syndrome, kyphoscoliotic type" OR "Ehlers-Danlos syndrome, kyphoscoliotic type 1" OR "Ehlers-Danlos syndrome, oculoscoliotic type" OR "Ehlers-Danlos syndrome, type 6" OR "nevo syndrome") OR ("PLOD1" OR "PLOD1 syndrome" OR "PLOD1-related")

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 due to lysyl hydroxylase 1 deficiency" OR "Cutis hyperelastica" OR "EDS VIA" OR "Ehlers-Danlos syndrome type 6A" OR "Kyphoscoliotic EDS due to lysyl hydroxylase 1 deficiency" OR "Lysyl hydroxylase-deficient EDS" OR "Ocular-scoliotic EDS" OR "kEDS-PLOD1" OR "EDS 6" OR "EDS, kyphoscoliotic type" OR "EDS, oculoscoliotic type" OR "Ehlers-Danlos syndrome kyphoscoliotic type" OR "Ehlers-Danlos syndrome, kyphoscoliotic type" OR "Ehlers-Danlos syndrome, kyphoscoliotic type 1" OR "Ehlers-Danlos syndrome, oculoscoliotic type" OR "Ehlers-Danlos syndrome, type 6" OR "nevo syndrome"

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.

Parent-category trials query:

"Ehlers-Danlos syndrome"

Query health: ok — strategies attempted: phrase; with hits: phrase

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: EDS6

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • 1 synonym(s) dropped by stoplist (may under-count)
  • "nevo syndrome" also appears on ORPHA:2691
  • Publication count (3259) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

Ingested 2026-07-26T18:26:57.586Z