ORPHA:642099
Spondyloepimetaphyseal dysplasia with joint laxity, Beighton type
Also known as: SEMD-JL1 · SEMDJL1 · Spondyloepimetaphyseal dysplasia with joint laxity type 1
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
67
52th percentile
Trials
0
Interventional, condition-specific
Researchers
451
Distinct authors in sample
Gene link
B3GALT6
Definitive
Readiness
2/6
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.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0010075
- OMIM:271640
- UMLS:C4017377
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.”
2/6 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.
- Gene identifiedPresent
Definitive — B3GALT6
- LiteraturePresent
67 matched papers (46 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 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)
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?
67
67 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.
67 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).
46 in the last 10 years · high confidence · 52th percentile (publications denominator)
Phrase hits: 67 · MeSH hits: 0
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.
- 01Mizumoto S7 papers · 2021
Department of Pathobiochemistry, Faculty of Pharmacy, Meijo University, Nagoya, Japan.
Papers in Europe PMC - 02Beighton 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 - 03Yamada S6 papers · 2021
Department of Pathobiochemistry, Faculty of Pharmacy, Meijo University, Nagoya, Japan.
Papers in Europe PMC - 04Cormier-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 - 05Sugahara 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 - 06Superti-Furga A4 papers · 2020
Division of Genetic Medicine, Lausanne University Hospital (CHUV), 1011 Lausanne, Switzerland.
Papers in Europe PMC - 07Unger S4 papers · 2020
Division of Genetic Medicine, Lausanne University Hospital (CHUV), 1011 Lausanne, Switzerland.
Papers in Europe PMC - 08Kozlowski K3 papers · 1995Papers in Europe PMC
- 09Malfait 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 - 10Syx 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 27 July 2026
No matched interventional trials. This is true for 73% of diseases in the trials denominator (5114 of 7003). Here are the researchers publishing on it.
high confidence · 36.5th 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.
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.
"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"
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" OR "B3GALT6"
Recall-expansion terms: B3GALT6
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: suspect — strategies attempted: phrase, recall-expansion; 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
Ingested 2026-07-27T19:36:20.019Z