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ORPHA:56304

Atelosteogenesis type II

low confidenceDisorder

Also known as: AO2 · AOII · Atelosteogenesis type 2 · De la Chapelle dysplasia · Neonatal osseous dysplasia type 1

Publications

1,302

Trials

0

Interventional, condition-specific

Researchers

647

Distinct authors in sample

Gene link

SLC26A2

Moderate

Readiness

3/6

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.

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

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.”

3/6 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.

  1. Gene identifiedPresent

    Moderate — SLC26A2

  2. LiteraturePresent

    1,302 matched papers (847 in last 10 years) Source

  3. Phenotype characterisedPresent

    81 HPO annotations (e.g. Pulmonary hypoplasia; Thoracolumbar kyphoscoliosis; Thoracic hypoplasia) Source

  4. Animal modelNot found

    No Alliance genotype “model of” associations via Monarch for these Mondo IDs

  5. Orphan designationNot found

    No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source

  6. 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)

81

Associated phenotypes · MONDO:0009727

  • Pulmonary hypoplasia
  • Thoracolumbar kyphoscoliosis
  • Thoracic hypoplasia
  • Equinovarus deformity
  • Laryngeal cartilage malformation

Showing 5 of 81 — open Monarch for the full list.

Animal models (Monarch / Alliance)

None returned for this Mondo ID. Empty here is not proof that no model organism work exists under another name or gene.

Monarch fetch 2026-07-29

Therapies

Designations, candidates, and chemicals

FDA OOPD and EMA orphan designations, Open Targets clinical candidates, and CTD chemical associations via MyDisease.info. These never change the interventional-trial headline.

Orphan designation (FDA · EMA)

No designation matched this disease via UMLS or preferred name on the FDA OOPD mirror or EMA orphan register. Absence here is not proof that none exists under another wording.

Open Targets candidates

No drugs or clinical candidates returned for this Mondo ID on Open Targets.

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

1,302

1,302 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=3967) is 59.

1,302 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 59 (publications denominator n=3967).

847 in the last 10 years · low confidence

Phrase hits: 123 · MeSH hits: 1

Open Europe PMC search

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.

  1. 01
    Superti-Furga A21 papers · 2026

    Centrer for Pediatrics and Adolescent Medicine, University of Freiberg, Freiberg, Germany

    Papers in Europe PMC
  2. 02
    Rossi A12 papers · 2023

    Department of Biochemistry Alessandro Castellani, University of Pavia, Italy.

    Papers in Europe PMC
  3. 03
    Bonafé L8 papers · 2023

    Division of Genetic Medicine, Centre Hospitalier Universitaire Vaudois, University of Lausanne, Switzerland.

    Papers in Europe PMC
  4. 04
    Nishimura G7 papers · 2023

    Department of Radiology, Tokyo Metropolitan Kiyose Children’s Hospital, Kiyose, Tokyo, Japan

    Papers in Europe PMC
  5. 05
    Unger S6 papers · 2026

    Centrer for Pediatrics and Adolescent Medicine, University of Freiberg, Freiberg, Germany

    Papers in Europe PMC
  6. 06
    Cormier-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
  7. 07
    Steinmann B5 papers · 2003
    Papers in Europe PMC
  8. 08
    Cohn DH4 papers · 2023

    Medical Genetics Research Institute, Cedars-Sinai Medical Center, Los Angeles, California, USA

    Papers in Europe PMC
  9. 09
    Dawson PA4 papers · 2015

    School of Biomedical Sciences, Department of Physiology and Pharmacology, University of Queensland, Brisbane, Australia.

    Papers in Europe PMC
  10. 10
    Ferreira 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 11 September 2026 · last trial check 11 September 2026

No matched interventional trials. This is true for 77.2% of diseases in the trials denominator (5501 of 7126). Here are the researchers publishing on it.

low confidence · 38.6th 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.

Other registries (secondary)

Broader net from EU CTIS, ISRCTN, and ICTRP when available — deduped against ClinicalTrials.gov IDs already counted above. Dual-model LLM relevance gates what we keep. These rows are not added to the interventional headline.

raw 0 · after dedupe 0 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 0 · dropped 0 · fetched 2026-07-29

Source notes: ictrp: Error: ICTRP public search unavailable (WHO portal is SPA-only; SOAP needs partnership). Tried: https://apps.who.int/tri

No secondary-registry studies passed dual-model relevance for this condition name (after dedupe).

Where to find support

Condition-specific patient organisations, when Orphanet lists them, are on the disease’s Orphanet page. We also link umbrella groups that support undiagnosed and ultra-rare families.

Orphanet entry for Atelosteogenesis type II — check Associations / patient organisations on that page.

India — NPRD

Last verified 2026-07-26

This 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") OR (MESH:"Atelosteogenesis type 2") OR ("SLC26A2" OR "SLC26A2 syndrome" OR "SLC26A2-related")

Run this search on Europe PMC

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"

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; 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
  • Publication count (1302) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-27T00:58:53.133Z