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ORPHA:1900

Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency

medium 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

Query health: suspect — Only one of 2 strategies returned hits (phrase).

Publications

881

91.3th percentile

Trials

1

Interventional, condition-specific

Researchers

1,247

Distinct authors in sample

Gene link

PLOD1

Definitive

Readiness

3/6

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.”

3/6 stages with a signal

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

  1. Gene identifiedPresent

    Definitive — PLOD1

  2. LiteraturePresent

    881 matched papers (600 in last 10 years) Source

  3. Phenotype characterisedNot checked

    Not yet enriched from Monarch / HPO

  4. Animal modelNot checked

    Not yet enriched from Monarch / Alliance

  5. Orphan designationNot checked

    FDA/EMA orphan-drug designation not enriched yet

  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)

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?

881

881 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=5449) is 41.

881 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).

600 in the last 10 years · medium confidence · 91.3th percentile (publications denominator)

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 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.

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

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 2026-07-26

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"

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" OR "PLOD1"

Recall-expansion terms: PLOD1

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: suspect — strategies attempted: phrase, recall-expansion; 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

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