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ORPHA:199

Cornelia de Lange syndrome

high confidenceDisorder

Also known as: Brachmann-de Lange syndrome

Publications

10,104

96th percentile

Trials

3

Interventional, condition-specific

Researchers

1,537

Distinct authors in sample

Gene link

DCAF15, HDAC8, NIPBL

Definitive

Readiness

5/6

Stages with a signal

Clinical definition (Orphanet)

A rare multiple anomalies syndrome characterized by facial dysmorphism, hypertrichosis, mild to profound , intrauterine growth restriction (IUGR) and/or postnatal growth restriction, feeding difficulties, abnormalities of the hands and feet (ranging from severe reductional limb abnormalities, oligodactyly, to brachymetacarpia of the first metacarpus). Variable visceral malformations may be present.

How rare: 1-9 / 100 000 — about one to nine people per hundred thousand.

Orphanet entry

Cross-references

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

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.”

5/6 stages with a signal

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

  1. Gene identifiedPresent

    Definitive — DCAF15, HDAC8, NIPBL, RAD21, SMC3

  2. LiteraturePresent

    10,104 matched papers (7,028 in last 10 years) Source

  3. Phenotype characterisedPresent

    480 HPO annotations (e.g. High palate; Thin vermilion border; Brachycephaly) Source

  4. Animal modelPresent

    12 genotype models (Danio rerio, 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 trialPresent

    3 matched on ClinicalTrials.gov (3 recruiting in sample)

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 (DCAF15, HDAC8, NIPBL…).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

480

Associated phenotypes · MONDO:0016033

  • High palate
  • Thin vermilion border
  • Brachycephaly
  • Atresia of the external auditory canal
  • Anteverted nares

Showing 5 of 480 — open Monarch for the full list.

Animal models (Monarch / Alliance)

12

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

1

Drugs / clinical candidates · MONDO_0016033

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

10,104

10,104 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.

10,104 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).

7,028 in the last 10 years · high confidence · 96th percentile (publications denominator)

Phrase hits: 2,961 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,537

Distinct author names in 200 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
    Puisac B14 papers · 2026

    Department of Pharmacology and Physiology, Unit of Clinical Genetics and Functional Genomics, School of Medicine, University of Zaragoza, CIBERER-GCV02 and IIS-Aragon, 50009 Zaragoza, Spain

    Papers in Europe PMC
  2. 02
    Pié J13 papers · 2026

    Department of Pharmacology and Physiology, Unit of Clinical Genetics and Functional Genomics, School of Medicine, University of Zaragoza, CIBERER-GCV02 and IIS-Aragon, 50009 Zaragoza, Spain

    Papers in Europe PMC
  3. 03
    Ramos FJ13 papers · 2026

    Unit of Clinical Genetics and Functional Genomics, Department of Pharmacology-Physiology-Legal Medicine, School of Medicine, Universidad de Zaragoza, CIBERER-GCV02 and IIS-Aragon, Zaragoza, Spain. framos@unizar.es.

    Papers in Europe PMC
  4. 04
    Arnedo M12 papers · 2026

    Department of Pharmacology and Physiology, Unit of Clinical Genetics and Functional Genomics, School of Medicine, University of Zaragoza, CIBERER-GCV02 and IIS-Aragon, 50009 Zaragoza, Spain

    Papers in Europe PMC
  5. 05
    Latorre-Pellicer A12 papers · 2026

    Department of Pharmacology and Physiology, Unit of Clinical Genetics and Functional Genomics, School of Medicine, University of Zaragoza, CIBERER-GCV02 and IIS-Aragon, 50009 Zaragoza, Spain

    Papers in Europe PMC
  6. 06
    Gil-Salvador M11 papers · 2026

    Department of Pharmacology and Physiology, Unit of Clinical Genetics and Functional Genomics, School of Medicine, University of Zaragoza, CIBERER-GCV02 and IIS-Aragon, 50009 Zaragoza, Spain

    Papers in Europe PMC
  7. 07
    Trujillano L11 papers · 2026

    Department of Pharmacology and Physiology, Unit of Clinical Genetics and Functional Genomics, School of Medicine, University of Zaragoza, CIBERER-GCV02 and IIS-Aragon, 50009 Zaragoza, Spain

    Papers in Europe PMC
  8. 08
    Kaiser FJ10 papers · 2026

    Institute of Human Genetics, University Hospital Essen University of Duisburg-Essen, Essen, Germany.

    Papers in Europe PMC
  9. 09
    Lucia-Campos C9 papers · 2026

    Department of Pharmacology and Physiology, Unit of Clinical Genetics and Functional Genomics, School of Medicine, University of Zaragoza, CIBERER-GCV02 and IIS-Aragon, 50009 Zaragoza, Spain

    Papers in Europe PMC
  10. 10
    Ayerza-Casas A8 papers · 2026

    Department of Pharmacology and Physiology, Unit of Clinical Genetics and Functional Genomics, School of Medicine, University of Zaragoza, CIBERER-GCV02 and IIS-Aragon, 50009 Zaragoza, Spain

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

3

interventional trials for this specific condition

3 interventional trials matched this specific condition name; 3 currently recruiting in our sample.

Data as of 11 September 2026 · last trial check 28 July 2026

3 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 86.7th percentile).

high confidence · 86.7th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

Observational and natural-history studies

2 observational studies match this condition. These do not test a treatment and are not counted in the interventional-trial headline, but they are genuine research: natural-history work often defines the endpoints needed for a future rare-disease trial, and families may be able to enroll.

Recruiting or not-yet-recruiting

Open the complete matched search on ClinicalTrials.gov

General rare disease registries you may be eligible for

These studies enroll across many rare conditions. They are not counted as evidence that anyone is studying this specific disease.

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 Cornelia de Lange 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.

("Cornelia de Lange syndrome" OR "Brachmann-de Lange syndrome") OR ("DCAF15" OR "DCAF15 syndrome" OR "DCAF15-related" OR "HDAC8" OR "HDAC8 syndrome" OR "HDAC8-related" OR "NIPBL" OR "NIPBL syndrome" OR "NIPBL-related")

Run this search on Europe PMC

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

"Cornelia de Lange syndrome" OR "Brachmann-de Lange syndrome"

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

Study-type breakdown: 3 interventional · 2 observational · 0 expanded access. Only interventional studies enter the trial headline.

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

Ingested 2026-07-26T12:52:32.933Z