ORPHA:263463
CHST3-related skeletal dysplasia
Also known as: Chondrodysplasia with congenital joint dislocations, CHST3 type · SDCD, CHST3 type · Spondyloepiphyseal dysplasia with congenital joint dyslocations, CHST3 type
Query health: suspect — Only one of 3 strategies returned hits (phrase).
Publications
58
48th percentile
Trials
0
Interventional, condition-specific
Researchers
449
Distinct authors in sample
Gene link
CHST3
Definitive
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
CHST3-related skeletal is a very rare bone disorder characterized clinically by short stature of onset; dislocation of the knees, hips or elbows; club feet; limitation of range of motion of large joints; kyphosis; and occasional scoliosis. In a few patients, minor heart valve has also been described. Intellect, vision and hearing are normal.
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:0007738
- MeSH:C537283
- OMIM:143095
- UMLS:C1837657
Additional Mondo synonyms (5)
Humerospinal dysostosis · chondrodysplasia with congenital joint dislocations, CHST3 type · chondrodysplasia with multiple dislocations · spondyloepiphyseal dysplasia with congenital joint dislocations · spondyloepiphyseal dysplasia with congenital joint dyslocations, CHST3 type
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 — CHST3
- LiteraturePresent
58 matched papers (37 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 (CHST3).
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?
58
58 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.
58 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).
37 in the last 10 years · medium confidence · 48th percentile (publications denominator)
Phrase hits: 58 · MeSH hits: 0
Who's working on it?
449
Distinct author names in 58 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.
- 01Cormier-Daire V6 papers · 2025
Department of Genetics, INSERM UMR 1163, Université Paris Descartes-Sorbonne Paris Cité, Institut Imagine, AP-HP, Hôpital Necker Enfants Malades, 75015 Paris, France. valerie.cormier-daire@inserm.fr.
Papers in Europe PMC - 02Mizumoto S6 papers · 2022
Department of Pathobiochemistry, Faculty of Pharmacy, Meijo University, 150 Yagotoyama, Tempaku-ku, Nagoya 468-8503, Japan.
Papers in Europe PMC - 03Superti-Furga A5 papers · 2020
Division of Genetic Medicine, Lausanne University Hospital, University of Lausanne, 1011 Lausanne, Switzerland.
Papers in Europe PMC - 04Huber C4 papers · 2025
Department of Genetics, INSERM UMR 1163, Université Paris Descartes-Sorbonne Paris Cité, Institut Imagine, AP-HP, Hôpital Necker Enfants Malades, 75015 Paris, France.
Papers in Europe PMC - 05Rossi A4 papers · 2020
Department of Molecular Medicine, Unit of Biochemistry, University of Pavia, 27100 Pavia, Italy.
Papers in Europe PMC - 06Unger S4 papers · 2011
Centre For Pediatrics and Adolescent Medicine, University of Freiburg, Freiburg, Germany.
Papers in Europe PMC - 07Al-Gazali L3 papers · 2017
Department of Pediatrics, College of Medicine and Health Sciences, UAE University, Al Ain, United Arab Emirates.
Papers in Europe PMC - 08Jiang Y3 papers · 2023
Department of Endocrinology, Key Laboratory of Endocrinology of National Health Commission, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China.
Papers in Europe PMC - 09Li Y3 papers · 2020
Department of Cardiology, Tianjin Medical University General Hospital, Tianjin, PR China.
Papers in Europe PMC - 10Sillence D3 papers · 2012Papers 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.
medium 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.
"CHST3-related skeletal dysplasia" OR "Chondrodysplasia with congenital joint dislocations, CHST3 type" OR "SDCD, CHST3 type" OR "Spondyloepiphyseal dysplasia with congenital joint dyslocations, CHST3 type" OR "Humerospinal dysostosis" OR "chondrodysplasia with multiple dislocations" OR "spondyloepiphyseal dysplasia with congenital joint dislocations"
MeSH descriptor terms unioned into the query: Gollop Coates syndrome
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"CHST3-related skeletal dysplasia" OR "Chondrodysplasia with congenital joint dislocations, CHST3 type" OR "SDCD, CHST3 type" OR "Spondyloepiphyseal dysplasia with congenital joint dyslocations, CHST3 type" OR "Humerospinal dysostosis" OR "chondrodysplasia with multiple dislocations" OR "spondyloepiphyseal dysplasia with congenital joint dislocations" OR "Gollop Coates syndrome" OR "CHST3" OR "spondyloepiphyseal dysplasia"
Recall-expansion terms: CHST3, spondyloepiphyseal dysplasia
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
- "Humerospinal dysostosis" also appears on ORPHA:1792
Ingested 2026-07-27T11:22:07.517Z