RARE DISEASERESEARCH ATLAS
Open navigation menu

ORPHA:99772

Cleft velum

medium confidenceDisorder

Also known as: Cleft soft palate · Cleft velum palatinum

Publications

18,649

96.8th percentile

Trials

0

Interventional, condition-specific

Researchers

1,051

Distinct authors in sample

Gene link

CDH1

Moderate

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

Cleft velum is a fissure type embryopathy that affects in varying degrees the soft palate.

How rare: 1-5 / 10 000 — about one to five people per ten thousand (still uncommon, but less ultra-rare).

Orphanet entry

Cross-references

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

Additional Mondo synonyms (3)

cleft soft palate · cleft velum · cleft velum palatinum

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

    Moderate — CDH1

  2. LiteraturePresent

    18,649 matched papers (9,323 in last 10 years) Source

  3. Phenotype characterisedPresent

    14 HPO annotations (e.g. Cleft soft palate; Nasal regurgitation; Hypoplasia of the maxilla) Source

  4. Animal modelPresent

    1 genotype model (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?

Probably — there is moderate evidence for CDH1.

GenCC classification: Moderate.

Phenotypes (Monarch / HPO)

14

Associated phenotypes · MONDO:0007338

  • Cleft soft palate
  • Nasal regurgitation
  • Hypoplasia of the maxilla
  • Speech articulation difficulties
  • Short face

Showing 5 of 14 — open Monarch for the full list.

Animal models (Monarch / Alliance)

1

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?

18,649

18,649 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.

18,649 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).

9,323 in the last 10 years · medium confidence · 96.8th percentile (publications denominator)

Phrase hits: 18,649 · MeSH hits: 490

Open Europe PMC search

Who's working on it?

1,051

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
    Marazita ML5 papers · 2026
    Papers in Europe PMC
  2. 02
    Alighieri C4 papers · 2026

    Department of Rehabilitation Sciences, Ghent University, Gent, Belgium.

    Papers in Europe PMC
  3. 03
    Butali A4 papers · 2026
    Papers in Europe PMC
  4. 04
    Davies A4 papers · 2026

    The Cleft Collective, Bristol Dental School, University of Bristol, Oakfield House, Bristol, United Kingdom.

    Papers in Europe PMC
  5. 05
    Shi B4 papers · 2026

    Department of Cleft Lip and Palate Surgery, West China Hospital of Stomatology, Sichuan University & State Key Laboratory of Oral Diseases & National Center for Stomatology & National Clinical Research Center for Oral Diseases, Chengdu 610041, China.

    Papers in Europe PMC
  6. 06
    Alter N3 papers · 2026

    Department of Plastic Surgery, Vanderbilt University Medical Center, Nashville, TN, USA.

    Papers in Europe PMC
  7. 07
    Booi DI3 papers · 2026

    Department of Plastic, Reconstructive and Hand Surgery, Cleft Team, Maastricht University Medical Centre, MosaKids Children's Hospital, Maastricht, the Netherlands.

    Papers in Europe PMC
  8. 08
    Bow M3 papers · 2026

    Faculty of Medicine and Health, The University of Sydney, New South Wales, Australia, and.

    Papers in Europe PMC
  9. 09
    Breugem C3 papers · 2026

    Amsterdam UMC, University of Amsterdam, Department of Plastic, Reconstructive and Hand Surgery, Meibergdreef 9, Amsterdam, 1105 AZ, the Netherlands.

    Papers in Europe PMC
  10. 10
    Chen R3 papers · 2026

    Department of Oral and Maxillofacial Plastic and Traumatic Surgery, Beijing Stomatological Hospital, Capital Medical University, No. 9 Fanjiacun Road, Fengtai District, Beijing 100070, China. Electronic address: chenrenji@126.com.

    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.

medium 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.

See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.

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 9 · after dedupe 9 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 9 · dropped 0 · fetched 2026-07-30

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).

Uncertain / not reviewed (9)

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 Cleft velum — 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.

"Cleft velum" OR "Cleft soft palate" OR "Cleft velum palatinum"

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Cleft Soft Palate

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

"Cleft velum" OR "Cleft soft palate" OR "Cleft velum palatinum"

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

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

Run this search on ClinicalTrials.gov

Confidence reasoning

  • Preferred label is short or not clearly distinctive
  • No synonyms dropped by stoplist
  • No label/synonym collisions with other diseases in this corpus

Ingested 2026-07-27T06:16:40.984Z