RARE DISEASERESEARCH ATLAS
Open navigation menu

ORPHA:1507

Autosomal recessive Robinow syndrome

low confidenceSubtype of disorder

Also known as: COVESDEM syndrome · Costovertebral segmentation defect-mesomelia syndrome · RRS

Publications

5,554

Trials

0

Interventional, condition-specific

Researchers

709

Distinct authors in sample

Gene link

ROR2

Definitive

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

Robinow syndrome (RRS) is the less common type of Robinow syndrome (RS) characterized by short-limb dwarfism, costovertebral segmentation defects and abnormalities of the head, face and external genitalia.

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 (2)

Robinow syndrome, autosomal recessive · costovertebral segmentation defect-mesomelia syndrome

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 — ROR2

  2. LiteraturePresent

    5,554 matched papers (3,144 in last 10 years) Source

  3. Phenotype characterisedPresent

    184 HPO annotations (e.g. Sandal gap; Synostosis of carpal bones; Finger syndactyly) 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 (ROR2).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

184

Associated phenotypes · MONDO:0009999

  • Sandal gap
  • Synostosis of carpal bones
  • Finger syndactyly
  • Short distal phalanx of finger
  • Open bite

Showing 5 of 184 — 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?

5,554

5,554 papers — among the better-studied rare conditions, though still a fraction of common-disease literature (breast cancer: over 700,000). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

5,554 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).

3,144 in the last 10 years · low confidence

Phrase hits: 112 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

709

Distinct author names in 112 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
    Afzal AR4 papers · 2007

    Medical Genetics Unit, St. George's Hospital Medical School, London, UK.

    Papers in Europe PMC
  2. 02
    Brunner HG4 papers · 2022

    Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, 6500HB Nijmegen, the Netherlands; Department of Clinical Genetics, Maastricht University Medical Center, 6200 AZ Maastricht, the Netherlands.

    Papers in Europe PMC
  3. 03
    Lupski JR4 papers · 2022

    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA; Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA. Electronic address: jlupski@bcm.edu.

    Papers in Europe PMC
  4. 04
    Mundlos S4 papers · 2005
    Papers in Europe PMC
  5. 05
    Wang Y4 papers · 2023

    Department of Endocrinology, Genetics and Metabolism, Beijing Children's Hospital, National Center for Children's Health, Capital Medical University, Beijing, China.

    Papers in Europe PMC
  6. 06
    Carvalho CMB3 papers · 2022

    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA. Electronic address: cfonseca@bcm.edu.

    Papers in Europe PMC
  7. 07
    Gibbs RA3 papers · 2022

    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA.

    Papers in Europe PMC
  8. 08
    Jeffery S3 papers · 2007
    Papers in Europe PMC
  9. 09
    Jhangiani SN3 papers · 2022

    Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA.

    Papers in Europe PMC
  10. 10
    Kayserili H3 papers · 2022

    Medical Genetics Department, Istanbul Medical Faculty, Istanbul University, Istanbul 34093, Turkey; Medical Genetics Department, School of Medicine, Koc University, Rumelifeneri Yolu, Sariyer Istanbul 34450 Turkey.

    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 Robinow syndrome 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: Robinow syndrome

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 Autosomal recessive Robinow syndrome — 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.

("Autosomal recessive Robinow syndrome" OR "COVESDEM syndrome" OR "Costovertebral segmentation defect-mesomelia syndrome" OR "Robinow syndrome, autosomal recessive") OR ("ROR2" OR "ROR2 syndrome" OR "ROR2-related")

Run this search on Europe PMC

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

"Autosomal recessive Robinow syndrome" OR "COVESDEM syndrome" OR "Costovertebral segmentation defect-mesomelia syndrome" OR "Robinow syndrome, autosomal recessive"

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

Parent-category trials query:

"Robinow syndrome"

Query health: ok — strategies attempted: phrase; with hits: phrase

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: RRS

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • 1 synonym(s) dropped by stoplist (may under-count)
  • No label/synonym collisions with other diseases in this corpus
  • Publication count (5554) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-26T17:35:09.696Z