ORPHA:2006
Median cleft lip/mandible
Also known as: Median cleft lower facial stage · Median cleft of the lower lip and mandible · Median mandibular cleft
Publications
43
34.8th percentile
Trials
0
Interventional, condition-specific
Researchers
256
Distinct authors in sample
Gene link
—
Readiness
1/6
Stages with a signal
Clinical definition (Orphanet)
A rare median facial cleft characterized by median cleft of the lower lip (ranging in extent from a notch in the vermilion to a complete cleft involving the tongue, lower lip, and chin, and extending to the cervical region), median cleft of the mandible (ranging from notching to a complete cleft), and anomaly of the tongue including bifid tongue and tongue tie. Associated features in severe cases may include absent hyoid, thyroid cartilage, and manubrium sterni, as well as atrophic neck muscles.
How rare: <1 / 1 000 000 — fewer than one in a million. In a city the size of Kolkata, that might mean on the order of fifteen people.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0016062
- UMLS:C4518460
Additional Mondo synonyms (1)
median cleft lower facial stage
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.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
43 matched papers (17 in last 10 years) Source
- Phenotype characterisedNot checked
Not yet enriched from Monarch / HPO
- Animal modelNot checked
Not yet enriched from Monarch / Alliance
- Orphan designationNot checked
FDA/EMA orphan-drug designation not enriched yet
- 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?
43
43 papers have ever been published on this condition (under this name). For scale, breast cancer has over 700,000. Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.
43 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).
17 in the last 10 years · high confidence · 34.8th percentile (publications denominator)
Phrase hits: 43 · MeSH hits: 0
Who's working on it?
256
Distinct author names in 43 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.
- 01Ladani P2 papers · 2022
Swiss Cleft and Craniofacial Centre (Cleft Children International), OPD No. 8, BSES MG Hospital, Opp. Bus Station, S.V. Road, Andheri-W, Mumbai 400 058, Maharashtra, India. Electronic address: drparitladani@gmail.com.
Papers in Europe PMC - 02Millard DR Jr2 papers · 1979Papers in Europe PMC
- 03Passos-Bueno MR2 papers · 2015
Centro de Estudos do Genoma Humano, Instituto de Biociências, Universidade de São Paulo, 05508-090, São Paulo, São Paulo, Brasil. Electronic address: passos@ib.usp.br.
Papers in Europe PMC - 04Sabnis R2 papers · 2022
Swiss Cleft Centre, BSES MG Hospital, Andheri W, Mumbai India.
Papers in Europe PMC - 05Sailer HF2 papers · 2022
Swiss Cleft Centre, BSES MG Hospital, Andheri W, Mumbai India.
Papers in Europe PMC - 06Zechi-Ceide RM2 papers · 2015
Departamento de Genética Clínica, Hospital de Reabilitação de Anomalias Craniofaciais, Universidade de São Paulo (HRAC-USP), 17012-090, Bauru, São Paulo, Brasil.
Papers in Europe PMC - 07Abe H1 paper · 2002
Department of Oral and Maxillofacial Surgery, Tokyo Women's Medical University, Daini Hospital, Japan. abeos@dnh.twmu.ac.jp
Papers in Europe PMC - 08Achebe CC1 paper · 2022
Radiology Department College of Medicine and Health Sciences Afe Babalola University Ado-Ekiti Ekiti State Nigeria.
Papers in Europe PMC - 09Adam MP1 paper · 2023
Department of Pediatrics, University of Washington, Seattle, WA, USA.
Papers in Europe PMC - 10Adetayo OA1 paper · 2013Papers 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 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.
See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.
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 2026-07-26This 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.
"Median cleft lip/mandible" OR "Median cleft lower facial stage" OR "Median cleft of the lower lip and mandible" OR "Median cleft of lower lip and mandible" OR "Median mandibular cleft"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Median cleft lip/mandible" OR "Median cleft lower facial stage" OR "Median cleft of the lower lip and mandible" OR "Median cleft of lower lip and mandible" OR "Median mandibular cleft"
Study-type breakdown: 0 interventional · 0 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 2026-07-26T18:43:14.545Z