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ORPHA:1507

Autosomal recessive Robinow syndrome

medium confidenceSubtype of disorder

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

Publications

112

53.9th percentile

Trials

1

Interventional, condition-specific

Researchers

709

Distinct authors in sample

Gene link

ROR2

Definitive

Readiness

3/6

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.”

3/6 stages with a signal

An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.

  1. Gene identifiedPresent

    Definitive — ROR2

  2. LiteraturePresent

    112 matched papers (52 in last 10 years) Source

  3. Phenotype characterisedNot checked

    Not yet enriched from Monarch / HPO

  4. Animal modelNot checked

    Not yet enriched from Monarch / Alliance

  5. Orphan designationNot checked

    FDA/EMA orphan-drug designation not enriched yet

  6. Interventional trialPresent

    1 matched on ClinicalTrials.gov

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)

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?

112

112 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.

112 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).

52 in the last 10 years · medium confidence · 53.9th percentile (publications denominator)

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?

People publishing on this condition (sampled Europe PMC records). Affiliation is the most recent found in that sample.

  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?

1

interventional trials for this specific condition

1 interventional trial matched this specific condition name; none in our sample are currently recruiting.

Data as of 27 July 2026

1 interventional trial — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 76.8th percentile).

medium confidence · 76.8th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

1 interventional trials matched after quoted-phrase search and title/condition post-filter.

No currently recruiting studies in the matched set. Open the same search on ClinicalTrials.gov.

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.

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 2026-07-26

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"

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" OR "ROR2"

Recall-expansion terms: ROR2

Interventional trials matched via: recall-expansion (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).

Study-type breakdown: 1 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, recall-expansion; with hits: phrase, recall-expansion

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

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