ORPHA:284139
Larsen-like syndrome, B3GAT3 type
Also known as: Multiple joint dislocations-short stature-craniofacial dysmorphism-congenital heart defects syndrome
Query health: suspect — Only one of 3 strategies returned hits (phrase).
Publications
12
24.9th percentile
Trials
0
Interventional, condition-specific
Researchers
80
Distinct authors in sample
Gene link
B3GAT3
Strong
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
Larsen-like syndrome, B3GAT3 type is a rare, genetic, primary bone characterized by laxity, dislocations and contractures of the joints, short stature, foot deformities (e.g. clubfeet), broad tips of fingers and toes, short neck, facial features (hypertelorism, downslanting palpebral fissures, upturned nose with anteverted nares, high arched palate) and various cardiac malformations. Severe disease is associated with multiple fractures, osteopenia, arachnodactyly and blue sclerae. A broad spectrum of additional features, including scoliosis, radio-ulnar synostosis, mild , and various eye disorders (glaucoma, amblyopia, hyperopia, astigmatism, ptosis), are also reported.
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:0009511
- MeSH:C537874
- OMIM:245600
- UMLS:C3278404
Additional Mondo synonyms (2)
multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects · multiple joint dislocations-short stature-craniofacial dysmorphism-congenital heart defects 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.”
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
Strong — B3GAT3
- LiteraturePresent
12 matched papers (8 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 (B3GAT3).
GenCC classification: Strong.
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?
12
12 papers have ever been indexed 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.
12 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).
8 in the last 10 years · high confidence · 24.9th percentile (publications denominator)
Phrase hits: 12 · MeSH hits: 0
Who's working on it?
80
Distinct author names in 12 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 S6 papers · 2021
Department of Pathobiochemistry, Faculty of Pharmacy, Meijo University, Nagoya, Japan.
Papers in Europe PMC - 02Sugahara K4 papers · 2015
Department of Pathobiochemistry, Faculty of Pharmacy, Meijo University, 150 Yagotoyama, Tempaku-ku, Nagoya 468-8503, Japan ; Laboratory of Proteoglycan Signaling and Therapeutics, Graduate School of Life Science, Hokkaido University, Sapporo 001-0021, Japan.
Papers in Europe PMC - 03Yamada S3 papers · 2021
Department of Pathobiochemistry, Faculty of Pharmacy, Meijo University, Nagoya, Japan.
Papers in Europe PMC - 04Ikegawa S2 papers · 2013Papers in Europe PMC
- 05Adams AD1 paper · 2022
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
Papers in Europe PMC - 06Al Shakaki A1 paper · 2023
Department of Genetic Medicine, Weill Cornell Medicine - Qatar, Doha, Qatar.
Papers in Europe PMC - 07Al-Gazali L1 paper · 2011Papers in Europe PMC
- 08Ali BR1 paper · 2011Papers in Europe PMC
- 09Aziz SA1 paper · 2011Papers in Europe PMC
- 10Baasanjav S1 paper · 2011
Institute of Medical Genetics, Charité University Medicine, Berlin, Germany.
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.
See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.
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.
"Larsen-like syndrome, B3GAT3 type" OR "Multiple joint dislocations-short stature-craniofacial dysmorphism-congenital heart defects syndrome" OR "multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects"
MeSH descriptor terms unioned into the query: Larsen syndrome, recessive type
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Larsen-like syndrome, B3GAT3 type" OR "Multiple joint dislocations-short stature-craniofacial dysmorphism-congenital heart defects syndrome" OR "multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects" OR "Larsen syndrome, recessive type" OR "B3GAT3"
Recall-expansion terms: B3GAT3
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: suspect — strategies attempted: phrase, mesh, 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 2026-07-27T12:00:31.805Z