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ORPHA:642099

Spondyloepimetaphyseal dysplasia with joint laxity, Beighton type

low confidenceDisorder

Also known as: SEMD-JL1 · SEMDJL1 · Spondyloepimetaphyseal dysplasia with joint laxity type 1

Publications

2,750

Trials

0

Interventional, condition-specific

Researchers

451

Distinct authors in sample

Gene link

B3GALT6

Definitive

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A rare primary bone with multiple joint dislocations characterized by stunted stature, articular hypermobility and spinal malalignment resulting in severe kyphosis. Joint dislocations include bilateral dislocation of the radial heads with elbow contractures, feet (bilateral talipes equinovarus) and dislocations of the hip and genu valgus. Joint laxity is particularly observed in fingers. Spinal changes include moderate platyspondyly with anterior projection of the vertebral bodies. Facial features of oval face with a flattened nasal bridge, button nose, long upper lip, prominent eyes and blue sclera are characteristic but variable. Patients may also present mild skin extensibility, spatulate terminal phalanges, lip and palate clefts, micrognathia and structural cardiac malformations.

How rare: <1 / 1 000 000 — fewer than one in a million. In a city the size of Kolkata, that might mean on the order of fifteen people.

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

Additional Mondo synonyms (4)

B3GALT6 spondyloepimetaphyseal dysplasia with joint laxity · spondyloepimetaphyseal dysplasia with joint laxity caused by mutation in B3GALT6 · spondyloepimetaphyseal dysplasia with joint laxity, Beighton type · spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures

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

No matched interventional trial; the gene is known and literature exists — preclinical or natural-history work may still be the practical next step.

  1. Gene identifiedPresent

    Definitive — B3GALT6

  2. LiteraturePresent

    2,750 matched papers (1,116 in last 10 years) Source

  3. Phenotype characterisedPresent

    76 HPO annotations (e.g. Hypotonia; Prominent forehead; Bicuspid aortic valve) 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 trialNot found

    No matched interventional trial under our ClinicalTrials.gov rules

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 (B3GALT6).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

76

Associated phenotypes · MONDO:0010075

  • Hypotonia
  • Prominent forehead
  • Bicuspid aortic valve
  • Pes planus
  • Kyphoscoliosis

Showing 5 of 76 — 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?

2,750

2,750 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.

2,750 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).

1,116 in the last 10 years · low confidence

Phrase hits: 67 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

451

Distinct author names in 67 sampled papers — named people below.

Who's working on it?

No interventional trial matched this name; these authors publish on it in the sampled literature — a practical starting point for contact.

  1. 01
    Mizumoto S7 papers · 2021

    Department of Pathobiochemistry, Faculty of Pharmacy, Meijo University, Nagoya, Japan.

    Papers in Europe PMC
  2. 02
    Beighton P6 papers · 2019

    Division of Human Genetics, Department of Pathology, Institute of Infectious Disease and Molecular Medicine, Faculty of Health Sciences, University of Cape Town, Cape Town, South Africa.

    Papers in Europe PMC
  3. 03
    Yamada S6 papers · 2021

    Department of Pathobiochemistry, Faculty of Pharmacy, Meijo University, Nagoya, Japan.

    Papers in Europe PMC
  4. 04
    Cormier-Daire V4 papers · 2024

    Département de génétique, INSERM U781, Université Paris Descartes-Sorbonne Paris Cité, Institut Imagine, Hôpital Necker Enfants Malades (AP-HP), Paris, France.

    Papers in Europe PMC
  5. 05
    Sugahara K4 papers · 2017

    Laboratory of Proteoglycan Signaling and Therapeutics, Frontier Research Center for Post-Genomic Science and Technology, Graduate School of Life Science, Hokkaido University, West-11, North-21, Kita-ku, Sapporo, Hokkaido 001-0021, Japan.

    Papers in Europe PMC
  6. 06
    Superti-Furga A4 papers · 2020

    Division of Genetic Medicine, Lausanne University Hospital (CHUV), 1011 Lausanne, Switzerland.

    Papers in Europe PMC
  7. 07
    Unger S4 papers · 2020

    Division of Genetic Medicine, Lausanne University Hospital (CHUV), 1011 Lausanne, Switzerland.

    Papers in Europe PMC
  8. 08
    Kozlowski K3 papers · 1995
    Papers in Europe PMC
  9. 09
    Malfait F3 papers · 2025

    Center for Medical Genetics, Ghent University and Ghent University Hospital, 0K5, Corneel Heymanslaan 10, B-9000, Ghent, Belgium. Fransiska.Malfait@uGent.be.

    Papers in Europe PMC
  10. 10
    Syx D3 papers · 2025

    Center for Medical Genetics, Ghent University and Ghent University Hospital, 0K5, Corneel Heymanslaan 10, B-9000, Ghent, Belgium.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

0

interventional trials for this specific condition

No interventional trial testing a treatment matched this specific condition name on ClinicalTrials.gov (observational studies and pan-disease registries are listed separately when present).

Data as of 11 September 2026 · last trial check 11 September 2026

No matched interventional trials. This is true for 77.2% of diseases in the trials denominator (5501 of 7126). Here are the researchers publishing on it.

low confidence · 38.6th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

No interventional trial testing a treatment was found for this specific condition name on ClinicalTrials.gov.

Broader category spondyloepimetaphyseal dysplasia with joint laxity also has no matched interventional trial. See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.

Broader category: spondyloepimetaphyseal dysplasia with joint laxity

0

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

Parent-category matching found a broader label but no interventional trials under it. How we count trials.

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 0 · after dedupe 0 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 0 · 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).

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 Spondyloepimetaphyseal dysplasia with joint laxity, Beighton type — 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.

("Spondyloepimetaphyseal dysplasia with joint laxity, Beighton type" OR "SEMD-JL1" OR "SEMDJL1" OR "Spondyloepimetaphyseal dysplasia with joint laxity type 1" OR "B3GALT6 spondyloepimetaphyseal dysplasia with joint laxity" OR "spondyloepimetaphyseal dysplasia with joint laxity caused by mutation in B3GALT6" OR "spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures") OR ("B3GALT6" OR "B3GALT6 syndrome" OR "B3GALT6-related")

Run this search on Europe PMC

ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):

"Spondyloepimetaphyseal dysplasia with joint laxity, Beighton type" OR "SEMD-JL1" OR "SEMDJL1" OR "Spondyloepimetaphyseal dysplasia with joint laxity type 1" OR "B3GALT6 spondyloepimetaphyseal dysplasia with joint laxity" OR "spondyloepimetaphyseal dysplasia with joint laxity caused by mutation in B3GALT6" OR "spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures"

Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.

Parent-category trials query:

"spondyloepimetaphyseal dysplasia with joint laxity"

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

Run this search on ClinicalTrials.gov

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • No synonyms dropped by stoplist
  • No label/synonym collisions with other diseases in this corpus
  • Publication count (2750) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-27T19:36:20.019Z