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ORPHA:141276

Tessier number 7 facial cleft

high confidenceDisorder

Also known as: Commissural facial cleft · Transverse facial cleft

Publications

898

88th percentile

Trials

0

Interventional, condition-specific

Researchers

1,180

Distinct authors in sample

Gene link

—

Readiness

1/6

Stages with a signal

Clinical definition (Orphanet)

A rare lateral facial cleft characterized by a temporo-zygomatic defect, usually with absence of the zygomatic arch and deformities of the mandibular ramus, condyle, and coronoid process. Associated soft tissue abnormalities include malformations of the ear and hypoplasia or absence of the temporal muscle. Preauricular hair may be absent or divided into two portions. Facial manifestations include macrostomia (with extension of the cleft to the corner of the mouth) and pre-auricular tags. Incomplete clefts may be found in the molar region and between the maxillary tuberosity and pterygoid process.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (1)

macrostomia

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.”

1/6 stages with a signal

Research-stage checklist from open sources (GenCC, literature, Monarch when enriched, ClinicalTrials.gov). Not a prognosis or care recommendation.

  1. Gene identifiedNot found

    No GenCC disease–gene assertion in this build

  2. LiteraturePresent

    898 matched papers (398 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 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?

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?

898

898 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.

898 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).

398 in the last 10 years · high confidence · 88th percentile (publications denominator)

Phrase hits: 898 · MeSH hits: 18

Open Europe PMC search

Who's working on it?

1,180

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
    Li J5 papers · 2024

    Department of Neonatology Department, Dongguan Children's Hospital, Xihu 3rd Road NO. 68, Dongguan, 523325, Guangdong, China.

    Papers in Europe PMC
  2. 02
    Wang X5 papers · 2025

    Gansu Provincial Hospital of Traditional Chinese Medicine, Lanzhou, Gansu, China.

    Papers in Europe PMC
  3. 03
    Chen J4 papers · 2025

    Department of Plastic Surgery, Nanjing Children's Hospital, Nanjing Medical University, Nanjing, People's Republic of China.

    Papers in Europe PMC
  4. 04
    Chen X4 papers · 2026

    Department of Otolaryngology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China.

    Papers in Europe PMC
  5. 05
    Wang J4 papers · 2026

    Gansu Provincial Hospital of Traditional Chinese Medicine, Lanzhou, Gansu, China.

    Papers in Europe PMC
  6. 06
    Wang Y4 papers · 2022

    Department of Dermatology, Rare Disease Center, West China Hospital, Sichuan University, Chengdu, China.

    Papers in Europe PMC
  7. 07
    Awotoye W3 papers · 2026

    Department of Orthodontics, College of Dentistry, University of Iowa, Iowa City, IA, USA.

    Papers in Europe PMC
  8. 08
    Lu X3 papers · 2024

    Department of Medical and Molecular Genetics, Dongguan Institute of Pediatrics, Xihu 3rd Road NO. 68, Dongguan, 523325, Guangdong, China. Electronic address: lxmdgeys@163.com.

    Papers in Europe PMC
  9. 09
    Luo J3 papers · 2026

    Guangxi Key Laboratory of Birth Defects Research and Prevention, Guangxi Key Laboratory of Reproductive Health and Birth Defects Prevention, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, China.

    Papers in Europe PMC
  10. 10
    Murray JC3 papers · 2026

    Department of Pediatrics, University of Iowa, Iowa City, IA, USA.

    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.

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.

Broader category facial cleft also has no matched interventional trial. See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.

Broader category: facial cleft

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.

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.

None of the matched observational studies is currently listed as 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.

"Tessier number 7 facial cleft" OR "Commissural facial cleft" OR "Transverse facial cleft" OR "macrostomia"

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Macrostomia

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

"Tessier number 7 facial cleft" OR "Commissural facial cleft" OR "Transverse facial cleft" OR "macrostomia" OR "disorder of facial skeleton"

Recall-expansion terms: disorder of facial skeleton

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

Parent-category trials query:

"facial cleft"

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

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 2026-07-27T07:56:33.476Z