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ORPHA:2098

Acromesomelic dysplasia, Grebe type

low confidenceDisorder

Also known as: Chondrodysplasia, Grebe type

Publications

3,541

Trials

0

Interventional, condition-specific

Researchers

1,158

Distinct authors in sample

Gene link

GDF5

Definitive

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

A rare acromesomelic characterized by severe dwarfism at birth, abnormalities confined to limbs, severe shortening and deformity of long bones, fusion or absence of carpal and tarsal bones, ball shaped fingers and, occasionally, polydactyly and absent joints. As seen in acromesomelic , Hunter-Thomson type and acromesomelic , Maroteaux Type, facial features and intelligence are normal.

How rare: How common this is has not been clearly measured.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (8)

GREBE chondrodysplasia · Grebe chondrodysplasia · Grebe dysplasia · Langer-Saldino achondrogenesis · acromesomelic dysplasia 2A · acromesomelic dysplasia, Grebe type · chondrodysplasia, Grebe type · type II achondrogenesis

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.”

4/6 stages with a signal

No matched interventional trial, but a gene association and an animal model are on record — often described as translation-ready / stalled at the clinical step.

  1. Gene identifiedPresent

    Definitive — GDF5

  2. LiteraturePresent

    3,541 matched papers (2,205 in last 10 years) Source

  3. Phenotype characterisedPresent

    40 HPO annotations (e.g. Micromelia; Short tibia; Skeletal dysplasia) Source

  4. Animal modelPresent

    4 genotype models (Mus musculus) Source

  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?

Yes — we know a specific gene responsible (GDF5).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

40

Associated phenotypes · MONDO:0008703

  • Micromelia
  • Short tibia
  • Skeletal dysplasia
  • Sarcoma
  • Aplasia of the middle phalanges of the toes

Showing 5 of 40 — open Monarch for the full list.

Animal models (Monarch / Alliance)

4

Model associations linked to this Mondo ID

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?

3,541

3,541 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.

3,541 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).

2,205 in the last 10 years · low confidence

Phrase hits: 264 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,158

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.

  1. 01
    Tsipouras P4 papers · 1998
    Papers in Europe PMC
  2. 02
    Wang L4 papers · 2024

    Department of Neurology, National Key Clinical Department and Key Discipline of Neurology, The First Affiliated Hospital, Sun Yat-sen University, 58 Zhongshan 2 Road, Guangzhou, 510080, GD, China.

    Papers in Europe PMC
  3. 03
    Ahmad W3 papers · 2018

    Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan.

    Papers in Europe PMC
  4. 04
    Byers PH3 papers · 2023

    University of Washington, Seattle, USA.

    Papers in Europe PMC
  5. 05
    Cormier-Daire V3 papers · 2023

    Imagine Institute, Université de Paris, Clinical Genetics, INSERM UMR 1163, Necker Enfants Malades Hospital, 75015 Paris, France.

    Papers in Europe PMC
  6. 06
    Lee S3 papers · 2024

    Department of Pediatric Surgery, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, South Korea.

    Papers in Europe PMC
  7. 07
    Malik S3 papers · 2024

    Human Genetics Program, Department of Animal Sciences, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan. malik@qau.edu.pk.

    Papers in Europe PMC
  8. 08
    Schuler-Faccini L3 papers · 2023

    Departamento de Genética, Instituto Nacional de Genética Médica Populacional, Universidade Federal do Rio Grande do Sul, Porto Alegre, RS, Brazil .

    Papers in Europe PMC
  9. 09
    Superti-Furga A3 papers · 2023

    Department of Pediatrics, University of Zurich, Switzerland.

    Papers in Europe PMC
  10. 10
    Zhang W3 papers · 2023

    Department of Human Medicine, Institute of Virology and Microbiology, Center for Biomedical Education and Research (ZBAF), Faculty of Health, Witten/Herdecke University, Witten, 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 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 acromesomelic dysplasia 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: acromesomelic dysplasia

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 Acromesomelic dysplasia, Grebe type — 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.

("Acromesomelic dysplasia, Grebe type" OR "Chondrodysplasia, Grebe type" OR "GREBE chondrodysplasia" OR "Grebe dysplasia" OR "Langer-Saldino achondrogenesis" OR "acromesomelic dysplasia 2A" OR "type II achondrogenesis") OR ("GDF5" OR "GDF5 syndrome" OR "GDF5-related")

Run this search on Europe PMC

ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):

"Acromesomelic dysplasia, Grebe type" OR "Chondrodysplasia, Grebe type" OR "GREBE chondrodysplasia" OR "Grebe dysplasia" OR "Langer-Saldino achondrogenesis" OR "acromesomelic dysplasia 2A" OR "type II achondrogenesis"

Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.

Parent-category trials query:

"acromesomelic dysplasia"

Query health: ok — strategies attempted: phrase; 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
  • Publication count (3541) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

Ingested 2026-07-26T19:06:26.829Z