ORPHA:628
Diastrophic dysplasia
Also known as: Diastrophic dwarfism
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
932
81.6th percentile
Trials
0
Interventional, condition-specific
Researchers
1,110
Distinct authors in sample
Gene link
SLC26A2
Strong
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare osteochondrodysplasia characterized by shortened limbs, normal sized head, short stature with short extremities (final adult height is 120cm +/- 20cm), spinal deformities and joint malformations leading to multiple joint contractures (principally involving the shoulders, elbows, interphalangeal joints and hips). The name indicates the ''twisted'' appearance of the spine and limbs in severe forms that is peculiar of this condition.
How rare: 1-9 / 100 000 — about one to nine people per hundred thousand.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0009107
- MeSH:C536170
- OMIM:222600
- UMLS:C0220726
- NCIT:C156311
Additional Mondo synonyms (1)
diastrophic dysplasia
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 — SLC26A2
- LiteraturePresent
932 matched papers (244 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 (SLC26A2).
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?
932
932 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.
932 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).
244 in the last 10 years · high confidence · 81.6th percentile (publications denominator)
Phrase hits: 932 · MeSH hits: 0
Who's working on it?
1,110
Distinct author names in 200 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.
- 01Superti-Furga A9 papers · 2026
Department of Pediatrics, Lausanne University Hospital, University of Lausanne, Lausanne 1011, Switzerland.
Papers in Europe PMC - 02Mäkitie O8 papers · 2025
Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden; Folkhälsan Institute of Genetics, Helsinki, Finland.
Papers in Europe PMC - 03Rossi A8 papers · 2026
Department of Molecular Medicine, Unit of Biochemistry and antrossi@unipv.it.
Papers in Europe PMC - 04Paganini C6 papers · 2023
Department of Molecular Medicine, Unit of Biochemistry and.
Papers in Europe PMC - 05Raggio C5 papers · 2025
Department of Orthopedic Surgery, Hospital for Special Surgery, New York, NY, USA.
Papers in Europe PMC - 06Bober MB4 papers · 2023
Division of Orthogenetics, Nemours/ A.I. duPont Hospital for Children, Wilmington, DE, USA.
Papers in Europe PMC - 07Cormier-Daire V4 papers · 2026
Université de Paris, INSERM UMR 1163, Institut Imagine, Paris, France.
Papers in Europe PMC - 08Li Y4 papers · 2025
China Animal Health and Epidemiology Center, Qingdao, Shandong, China.
Papers in Europe PMC - 09Monti L4 papers · 2021
Department of Molecular Medicine, Unit of Biochemistry and.
Papers in Europe PMC - 10Savarirayan R4 papers · 2021
Victorian Clinical Genetics Service, Royal Children's Hospital, Melbourne, Victoria, Australia.
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.
"Diastrophic dysplasia" OR "Diastrophic dwarfism"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Diastrophic dysplasia" OR "Diastrophic dwarfism" OR "SLC26A2" OR "SLC26A2-related skeletal dysplasia"
Recall-expansion terms: SLC26A2, SLC26A2-related skeletal dysplasia
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
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 2026-07-26T14:37:21.878Z