ORPHA:56304
Atelosteogenesis type II
Also known as: AO2 · AOII · Atelosteogenesis type 2 · De la Chapelle dysplasia · Neonatal osseous dysplasia type 1
Publications
123
53th percentile
Trials
0
Interventional, condition-specific
Researchers
647
Distinct authors in sample
Gene link
SLC26A2
Moderate
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare, lethal perinatal bone characterized by limb shortening, normal sized skull with cleft palate, hitchhiker thumbs, distinctive facial dysmorphism and radiographic skeletal features, caused by mutations in the diastrophic sulfate transporter gene.
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:0009727
- MeSH:C535395
- OMIM:256050
- UMLS:C1850554
Additional Mondo synonyms (3)
atelosteogenesis type 2 · atelosteogenesis type II · neonatal osseous dysplasia type 1
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
Moderate — SLC26A2
- LiteraturePresent
123 matched papers (49 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?
Probably — there is moderate evidence for SLC26A2.
GenCC classification: Moderate.
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?
123
123 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.
123 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).
49 in the last 10 years · medium confidence · 53th percentile (publications denominator)
Phrase hits: 123 · MeSH hits: 1
Who's working on it?
647
Distinct author names in 123 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 A21 papers · 2026
Centrer for Pediatrics and Adolescent Medicine, University of Freiberg, Freiberg, Germany
Papers in Europe PMC - 02Rossi A12 papers · 2023
Department of Biochemistry Alessandro Castellani, University of Pavia, Italy.
Papers in Europe PMC - 03Bonafé L8 papers · 2023
Division of Genetic Medicine, Centre Hospitalier Universitaire Vaudois, University of Lausanne, Switzerland.
Papers in Europe PMC - 04Nishimura G7 papers · 2023
Department of Radiology, Tokyo Metropolitan Kiyose Children’s Hospital, Kiyose, Tokyo, Japan
Papers in Europe PMC - 05Unger S6 papers · 2026
Centrer for Pediatrics and Adolescent Medicine, University of Freiberg, Freiberg, Germany
Papers in Europe PMC - 06Cormier-Daire V5 papers · 2026
Paris Cité University, Reference Center for Skeletal Dysplasia, INSERM UMR 1163, Imagine Institute, Necker Enfants Malades Hospital (AP-HP), Paris, France.
Papers in Europe PMC - 07Steinmann B5 papers · 2003Papers in Europe PMC
- 08Cohn DH4 papers · 2023
Medical Genetics Research Institute, Cedars-Sinai Medical Center, Los Angeles, California, USA
Papers in Europe PMC - 09Dawson PA4 papers · 2015
School of Biomedical Sciences, Department of Physiology and Pharmacology, University of Queensland, Brisbane, Australia.
Papers in Europe PMC - 10Ferreira CR4 papers · 2026
Skeletal Genomics Unit, Metabolic Medicine Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.
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.
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.
Broader category atelosteogenesis 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: atelosteogenesis
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.
"Atelosteogenesis type II" OR "Atelosteogenesis type 2" OR "De la Chapelle dysplasia" OR "Neonatal osseous dysplasia type 1"
MeSH descriptor terms unioned into the query: Atelosteogenesis type 2
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Atelosteogenesis type II" OR "Atelosteogenesis type 2" OR "De la Chapelle dysplasia" OR "Neonatal osseous dysplasia type 1" OR "SLC26A2"
Recall-expansion terms: SLC26A2
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Parent-category trials query:
"atelosteogenesis"
Query health: ok — strategies attempted: phrase, mesh, recall-expansion; with hits: phrase, mesh
Run this search on ClinicalTrials.gov
Synonyms dropped by stoplist: AO2; AOII
Confidence reasoning
- Preferred label is multi-word and distinctive
- 2 synonym(s) dropped by stoplist (may under-count)
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-27T00:58:53.133Z