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ORPHA:199306

Cleft lip/palate

medium confidenceDisorder

Also known as: Alveolar cleft lip and palate · Cleft lip and palate · Cleft lip-alveolus-palate syndrome · FLP

Publications

30,894

98.2th percentile

Trials

73

Interventional, condition-specific

Researchers

983

Distinct authors in sample

Gene link

AFDN, ARHGEF38, DLG1

Strong

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

Cleft lip and palate is a fissure type embryopathy extending across the upper lip, nasal base, alveolar ridge and the hard and 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)

alveolar cleft lip and palate · cleft lip and palate · cleft lip-alveolus-palate 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

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

  1. Gene identifiedPresent

    Strong — AFDN, ARHGEF38, DLG1, FST, PLEKHA5…

  2. LiteraturePresent

    30,894 matched papers (16,668 in last 10 years) Source

  3. Phenotype characterisedPresent

    49 HPO annotations (e.g. Unilateral cleft palate; Unilateral cleft lip; Cleft palate) Source

  4. Animal modelNot found

    No Alliance genotype “model of” associations via Monarch for these Mondo IDs

  5. Orphan designationNot found

    No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source

  6. Interventional trialPresent

    73 matched on ClinicalTrials.gov (24 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 (AFDN, ARHGEF38, DLG1…).

GenCC classification: Strong.

Phenotypes (Monarch / HPO)

49

Associated phenotypes · MONDO:0016044

  • Unilateral cleft palate
  • Unilateral cleft lip
  • Cleft palate
  • Cleft upper lip
  • Cleft lip

Showing 5 of 49 — open Monarch for the full list.

Animal models (Monarch / Alliance)

None returned for this Mondo ID. Empty here is not proof that no model organism work exists under another name or gene.

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?

30,894

30,894 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.

30,894 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).

16,668 in the last 10 years · medium confidence · 98.2th percentile (publications denominator)

Phrase hits: 24,611 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

983

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
    Batra P8 papers · 2026

    Cleft Orthodontist, Sant Parmanand Hospital, New Delhi, India.

    Papers in Europe PMC
  2. 02
    Budihardja AS4 papers · 2026

    Dept/Oral maxillofacial Surgery, Faculty of Dentistry, Universitas Pelita Harapan Tangerang-Indonesia, and Comprehensive Cleft Center Siloam Lippo Village, Tangerang, Indonesia. abudihardja79@gmail.com.

    Papers in Europe PMC
  3. 03
    Das S4 papers · 2026

    Department of Orthodontics, SCB Govt Dental College, Cuttack, India.

    Papers in Europe PMC
  4. 04
    Singh K4 papers · 2026

    Department of Orthodontics and Dentofacial Orthopaedics, Saraswati Dental College and Hospital, Lucknow UP, India.

    Papers in Europe PMC
  5. 05
    Wang Y4 papers · 2026

    Professor, Chief Physician, Doctoral Supervisor, Center for Cleft Lip and Palate Treatment, Plastic Surgery Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China. Electronic address: surgeonfrank2023@163.com.

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

    Faculty of Medicine of University of São Paulo Coordinator of Craniofacial Surgery HRAC-USP Bauru, São Paulo, Brazil.

    Papers in Europe PMC
  7. 07
    Bhat HHK3 papers · 2026

    Yenepoya-ABMSS Cleft Project, Centre for Craniofacial Anomalies, Yenepoya (Deemed to be University), Mangalore, India.

    Papers in Europe PMC
  8. 08
    Bijapur S3 papers · 2026

    Bhagwan Mahaveer Jain Hospital, Bangalore, India.

    Papers in Europe PMC
  9. 09
    Bonanthaya K3 papers · 2026

    Maxillofacial Surgeon, CLC, Smile Train at Bhagwan Mahaveer Jain Hospital, Bangalore, India.

    Papers in Europe PMC
  10. 10
    Kahlon SS3 papers · 2026

    Amandeep Hospital, Amritsar, India.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

73

interventional trials for this specific condition

73 interventional trials matched this specific condition name; 24 currently recruiting in our sample.

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

73 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 98.1th percentile).

medium confidence · 98.1th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

Observational and natural-history studies

37 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

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 38 · after dedupe 37 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 37 · 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 (37)

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 lip/palate — 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 lip/palate" OR "Alveolar cleft lip and palate" OR "Cleft lip and palate" OR "Cleft lip-alveolus-palate syndrome") OR ("AFDN" OR "AFDN syndrome" OR "AFDN-related" OR "ARHGEF38" OR "ARHGEF38 syndrome" OR "ARHGEF38-related" OR "DLG1" OR "DLG1 syndrome" OR "DLG1-related")

Run this search on Europe PMC

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

"Cleft lip/palate" OR "Alveolar cleft lip and palate" OR "Cleft lip and palate" OR "Cleft lip-alveolus-palate 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: 73 interventional · 37 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

Synonyms dropped by stoplist: FLP

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 2026-07-27T09:12:25.045Z