ORPHA:2108
Hallermann-Streiff syndrome
Also known as: François dyscephalic syndrome · Oculomandibulofacial syndrome
Publications
396
68th percentile
Trials
0
Interventional, condition-specific
Researchers
877
Distinct authors in sample
Gene link
—
Readiness
1/6
Stages with a signal
Clinical definition (Orphanet)
Hallermann-Streiff syndrome is a rare genetic syndrome characterized mainly by head and facial abnormalities such as bird-like facies (with beak-shaped nose and retrognathia), hypoplastic mandible, brachycephaly with frontal bossing, dental abnormalities (e.g. absence of teeth, natal teeth, supernumerary teeth, severe agenesis of permanent teeth, enamel hypoplasia) hypotrichosis, various ophthalmic disorders (e.g. cataracts, bilateral microphthalmia, ptosis, nystagmus) and atrophy of skin (especially around the center of face and nose) as well as telangiectasia and proportionate short stature. is reported in some cases.
How rare: How common this is has not been clearly measured.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0009318
- MeSH:D006210
- OMIM:234100
- UMLS:C0018522
- NCIT:C84746
Additional Mondo synonyms (5)
FranC'ois dyscephalic syndrome · Francois dyscephalic syndrome · Hallermann syndrome · Hallermann's syndrome · oculomandibulofacial 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.”
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
396 matched papers (109 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?
396
396 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.
396 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).
109 in the last 10 years · high confidence · 68th percentile (publications denominator)
Phrase hits: 396 · MeSH hits: 0
Who's working on it?
877
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.
- 01François J3 papers · 1983Papers in Europe PMC
- 02Hoischen A3 papers · 2021
Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
Papers in Europe PMC - 03Innes AM3 papers · 2022
Department of Medical Genetics and Alberta Children's Hospital Research Institute, University of Calgary, Calgary, AB T2N 4N1, Canada.
Papers in Europe PMC - 04Kayserili H3 papers · 2021
Medical Genetics Department, Koç University School of Medicine, Istanbul, Turkey.
Papers in Europe PMC - 05Li Y3 papers · 2022
Prostate Cancer Program, Dana-Farber and Harvard Cancer Center, Harvard University, Boston, MA 02115, USA.
Papers in Europe PMC - 06Numabe H3 papers · 2021
Department of Medical Informatics/Department of Paediatrics, Tokyo Medical University.
Papers in Europe PMC - 07Veyssiere A3 papers · 2026
Department of Oral and Maxillofacial Surgery, Caen University Hospital, Caen, France; Laboratory EA 4652 Microenvironnement Cellulaire et Pathologies, University of Caen Basse-Normandie, Caen, France. Electronic address: alexis.veyssiere@hotmail.fr.
Papers in Europe PMC - 08Wollnik B3 papers · 2021
Institute of Human Genetics, University Medical Center Göttingen, Göttingen, Germany.
Papers in Europe PMC - 09Altmüller J2 papers · 2021
Cologne Center for Genomics, University of Cologne, Cologne, Germany.
Papers in Europe PMC - 10Ambroise B2 papers · 2026
Department of Oral and Maxillofacial Surgery, Caen University Hospital, Caen, France.
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 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.
"Hallermann-Streiff syndrome" OR "François dyscephalic syndrome" OR "Oculomandibulofacial syndrome" OR "FranC'ois dyscephalic syndrome" OR "Francois dyscephalic syndrome" OR "Hallermann syndrome" OR "Hallermann's syndrome"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Hallermann-Streiff syndrome" OR "François dyscephalic syndrome" OR "Oculomandibulofacial syndrome" OR "FranC'ois dyscephalic syndrome" OR "Francois dyscephalic syndrome" OR "Hallermann syndrome" OR "Hallermann's syndrome"
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 2026-07-26T19:07:39.706Z