ORPHA:2755
Orofaciodigital syndrome type 8
Also known as: OFD8 · Oral-facial-digital syndrome type 8 · Oral-facial-digital syndrome, Edwards type · Orofaciodigital syndrome, Edwards type
Publications
3
15.2th percentile
Trials
0
Interventional, condition-specific
Researchers
29
Distinct authors in sample
Gene link
—
Readiness
1/6
Stages with a signal
Clinical definition (Orphanet)
A rare orofaciodigital syndrome characterized by hypertelorism, telecanthus, broad and bifid nasal tip, median cleft of the upper lip, tongue lobulation and/or hamartomas, oral frenula, high-arched or cleft palate, hypoplasia of the epiglottis, arytenoid cartilages, bilateral preaxial and postaxial polydactyly, abnormal tibiae and/or radii, bifid halluces, short stature, and mild intellectual deficiency. Absent corpus callosum, hydrocephalus, atrioventricular septal defect and recurrent aspiration pneumonia, have also been reported. There have been no further descriptions in the literature since 1993.
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:0010336
- MeSH:C557820
- OMIM:300484
- UMLS:C0796101
Additional Mondo synonyms (6)
oral-facial-digital syndrome type 8 · oral-facial-digital syndrome, Edwards type · orofaciodigital syndrome VIII · orofaciodigital syndrome VIII, X-linked recessive · orofaciodigital syndrome type VIII · orofaciodigital syndrome, Edwards type
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
3 matched papers (3 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?
3
3 papers have ever been indexed 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.
3 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).
3 in the last 10 years · medium confidence · 15.2th percentile (publications denominator)
Phrase hits: 3 · MeSH hits: 0
Who's working on it?
29
Distinct author names in 3 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.
- 01Ae Ibrahim R1 paper · 2023
Phoniatrics Department, Faculty of Medicine, Assiut University, Assiut, Egypt.
Papers in Europe PMC - 02Alsobky MEI1 paper · 2023
Otorhinolaryngology Department, Faculty of Medicine-Damietta, Alazhar University, Damietta, Egypt.
Papers in Europe PMC - 03Ashraf B1 paper · 2023
Otorhinolaryngology Department, Faculty of Medicine, Mansoura University, Mansoura, Egypt.
Papers in Europe PMC - 04Buonaiuto M1 paper · 2022
CEINGE, Biotecnologie Avanzate, Via Gaetano Salvatore, 80145 Naples, Italy.
Papers in Europe PMC - 05Capoluongo E1 paper · 2022
Department of Molecular Medicine and Medical Biotechnologies, University Federico II, 80131 Naples, Italy.
Papers in Europe PMC - 06Chen HX1 paper · 2020
Center for Basic Medical Research & Department of Cardiovascular Surgery, TEDA International Cardiovascular Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Tianjin, China.
Papers in Europe PMC - 07Chiariotti L1 paper · 2022
CEINGE, Biotecnologie Avanzate, Via Gaetano Salvatore, 80145 Naples, Italy.
Papers in Europe PMC - 08Costabile D1 paper · 2022
CEINGE, Biotecnologie Avanzate, Via Gaetano Salvatore, 80145 Naples, Italy.
Papers in Europe PMC - 09Cuomo M1 paper · 2022
CEINGE, Biotecnologie Avanzate, Via Gaetano Salvatore, 80145 Naples, Italy.
Papers in Europe PMC - 10Della Monica R1 paper · 2022
CEINGE, Biotecnologie Avanzate, Via Gaetano Salvatore, 80145 Naples, Italy.
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.
medium 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 orofaciodigital syndrome 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: orofaciodigital syndrome
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.
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.
"Orofaciodigital syndrome type 8" OR "Oral-facial-digital syndrome type 8" OR "Oral-facial-digital syndrome, Edwards type" OR "Orofaciodigital syndrome, Edwards type" OR "orofaciodigital syndrome VIII" OR "orofaciodigital syndrome VIII, X-linked recessive" OR "orofaciodigital syndrome type VIII"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Orofaciodigital syndrome type 8" OR "Oral-facial-digital syndrome type 8" OR "Oral-facial-digital syndrome, Edwards type" OR "Orofaciodigital syndrome, Edwards type" OR "orofaciodigital syndrome VIII" OR "orofaciodigital syndrome VIII, X-linked recessive" OR "orofaciodigital syndrome type VIII"
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Parent-category trials query:
"orofaciodigital syndrome"
Query health: ok — strategies attempted: phrase; with hits: phrase
Run this search on ClinicalTrials.gov
Synonyms dropped by stoplist: OFD8
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 2026-07-26T21:05:07.358Z