ORPHA:79113
Mandibulofacial dysostosis-microcephaly syndrome
Also known as: MFDM syndrome · Mandibulofacial dysostosis, Guion-Almeida type
Publications
179
73.2th percentile
Trials
0
Interventional, condition-specific
Researchers
1,581
Distinct authors in sample
Gene link
EFTUD2
Definitive
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
A rare genetic, multiple syndrome characterized by malar and mandibular hypoplasia, microcephaly, ear malformations with associated conductive hearing loss, distinctive facial dysmorphism (with significantly overlap to Treacher Collins syndrome), , and .
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:0012516
- MeSH:C537405
- OMIM:610536
- UMLS:C1864652
Additional Mondo synonyms (3)
mandibulofacial dysostosis with microcephaly · mandibulofacial dysostosis, Guion-Almeida type · mandibulofacial dysostosis-microcephaly 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.”
3/6 stages with a signal
No specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.
- Gene identifiedPresent
Definitive — EFTUD2
- LiteraturePresent
179 matched papers (145 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 trialPartial
None under the specific name; 3 for broader category dysostosis
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 (EFTUD2).
GenCC classification: Definitive.
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?
179
179 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.
179 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).
145 in the last 10 years · high confidence · 73.2th percentile (publications denominator)
Phrase hits: 179 · MeSH hits: 0
Who's working on it?
1,581
Distinct author names in 179 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.
- 01Boycott KM10 papers · 2025
Children's Hospital of Eastern Ontario Research Institute, Ottawa, Ontario, Canada.
Papers in Europe PMC - 02Majewski J7 papers · 2021
Department of Human Genetics, McGill University, Montreal, QC H3A 1B1, Canada.
Papers in Europe PMC - 03
- 04Chen L6 papers · 2025
Quantitative and Computational Biology, Department of Biological Sciences, University of Southern California, 1050 Childs Way, Los Angeles, CA 90089, United States.
Papers in Europe PMC - 05
- 06Chen Y5 papers · 2026
Peking University Shenzhen Hospital, Clinical College of Anhui Medical University, Shenzhen, China.
Papers in Europe PMC - 07
- 08Hartley T5 papers · 2022
Children's Hospital of Eastern Ontario Research Institute, Ottawa, Ontario, Canada.
Papers in Europe PMC - 09Liu Y5 papers · 2024
Department of Genetics, Jiangxi Maternal and Child Health Hospital, 330006, Nanchang, China.
Papers in Europe PMC - 10O'Keefe RT5 papers · 2025
Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, The University of Manchester, Manchester, United Kingdom.
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. 3 trials are registered for dysostosis, 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.
3 interventional trials matched dysostosis, the broader category — listed below. Those studies are not counted in the condition-specific total.
Broader category: dysostosis
3
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.
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
- NCT06092346·RECRUITING·A Natural History Study Seeks to Understand the Clinical, Genomic, Pharmacological, Laboratory, and Dietary Determinates of Pyrimidine and Purine Metabolism Disorders
Conditions: AMPD3, OMIM*102772, AMP Deaminase Deficiency · AK1, OMIM *103000, Adenylate Kinase Deficiency · AMPD1, OMIM *102770, Myopathy Due to Myoadenylate Deaminase Deficiency · TPMT, OMIM *187680, Thoipurines, Poor Metabolism of·Matched via recall expansion
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.
"Mandibulofacial dysostosis-microcephaly syndrome" OR "MFDM syndrome" OR "Mandibulofacial dysostosis, Guion-Almeida type" OR "mandibulofacial dysostosis with microcephaly"
MeSH descriptor terms unioned into the query: Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Mandibulofacial dysostosis-microcephaly syndrome" OR "MFDM syndrome" OR "Mandibulofacial dysostosis, Guion-Almeida type" OR "mandibulofacial dysostosis with microcephaly" OR "Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate" OR "EFTUD2" OR "acrofacial dysostosis"
Recall-expansion terms: EFTUD2, acrofacial dysostosis
Study-type breakdown: 0 interventional · 1 observational · 0 expanded access. Only interventional studies enter the trial headline.
Parent-category trials query:
"dysostosis"
Query health: ok — strategies attempted: phrase, mesh, recall-expansion; with hits: phrase, recall-expansion
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 2026-07-27T01:57:58.600Z