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ORPHA:199302

Isolated cleft lip

high confidenceDisorder

Publications

703

85.2th percentile

Trials

0

Interventional, condition-specific

Researchers

1,087

Distinct authors in sample

Gene link

—

Readiness

2/6

Stages with a signal

Clinical definition (Orphanet)

Isolated cleft lip is a fissure type embryopathy extending from the upper lip to the nasal base.

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 (2)

isolated cleft lip (disease) · nonsyndromic cleft lip (disease)

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.”

2/6 stages with a signal

No specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.

  1. Gene identifiedNot found

    No GenCC disease–gene assertion in this build

  2. LiteraturePresent

    703 matched papers (308 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 trialPartial

    None under the specific name; 120 for broader category cleft lip

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?

Not yet — the cause hasn't been pinned down in GenCC.

No strong gene–disease assertion joined for this Orphanet entity.

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?

703

703 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=5449) is 41.

703 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).

308 in the last 10 years · high confidence · 85.2th percentile (publications denominator)

Phrase hits: 703 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,087

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
    Conrad AL9 papers · 2026

    Stead Family Department of Pediatrics, University of Iowa Carver College of Medicine.

    Papers in Europe PMC
  2. 02
    Marazita ML8 papers · 2026

    Center for Craniofacial and Dental Genetics, Department of Oral and Craniofacial Sciences, School of Dental Medicine, University of Pittsburgh, 3501 Terrace Street, Pittsburgh, PA 15261, United States.

    Papers in Europe PMC
  3. 03
    Murray JC8 papers · 2026

    Department of Pediatrics, University of Iowa, 200 Hawkins Drive, Iowa City, IA 52242, United States.

    Papers in Europe PMC
  4. 04
    Weinberg SM7 papers · 2026

    Center for Craniofacial and Dental Genetics, Department of Oral and Craniofacial Sciences, School of Dental Medicine, University of Pittsburgh, 3501 Terrace Street, Pittsburgh, PA 15261, United States.

    Papers in Europe PMC
  5. 05
    Carlson JC6 papers · 2026

    Department of Human Genetics, School of Public Health, University of Pittsburgh, 130 De Soto Street, Pittsburgh, PA 15261, United States.

    Papers in Europe PMC
  6. 06
    Shaffer JR6 papers · 2026

    Center for Craniofacial and Dental Genetics, Department of Oral and Craniofacial Sciences, School of Dental Medicine, University of Pittsburgh, 3501 Terrace Street, Pittsburgh, PA 15261, United States.

    Papers in Europe PMC
  7. 07
    Beaty TH5 papers · 2025

    Department of Epidemiology, Johns Hopkins University, 615 North Wolfe Street, Baltimore, MD 21205, United States.

    Papers in Europe PMC
  8. 08
    Butali A5 papers · 2026

    College of Dentistry and Dental Clinics, University of Iowa , Iowa City, IA, 52242, USA.

    Papers in Europe PMC
  9. 09
    Erdogan-Yildirim Z5 papers · 2026

    Center for Craniofacial and Dental Genetics, Department of Oral and Craniofacial Sciences, School of Dental Medicine, University of Pittsburgh, Pittsburgh, PA 15261, USA.

    Papers in Europe PMC
  10. 10
    Leslie-Clarkson EJ5 papers · 2026

    Department of Human Genetics, Emory University School of Medicine, 615 Michael Street, Suite 301 Atlanta, GA 30322, United States.

    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. 1 observational study did — shown below because natural-history and cohort work can be an important step toward a trial. 120 trials are registered for cleft lip, the broader category — shown separately because they may or may not enrol this specific subtype.

Data as of 27 July 2026

No matched interventional trials. This is true for 73% of diseases in the trials denominator (5114 of 7003). Here are the researchers publishing on it.

high confidence · 36.5th 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.

120 interventional trials matched cleft lip, the broader category — listed below. Those studies are not counted in the condition-specific total.

Broader category: cleft lip

120

Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.

Worth raising with a clinician. How we count trials.

Recruiting under the broader category

Observational and natural-history studies

1 observational study matches 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

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.

"Isolated cleft lip" OR "isolated cleft lip (disease)" OR "nonsyndromic cleft lip (disease)"

Run this search on Europe PMC

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

"Isolated cleft lip" OR "isolated cleft lip (disease)" OR "nonsyndromic cleft lip (disease)"

Study-type breakdown: 0 interventional · 1 observational · 0 expanded access. Only interventional studies enter the trial headline.

Parent-category trials query:

"cleft lip"

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 2026-07-27T09:11:52.824Z