ORPHA:2763
Osteocraniostenosis
Also known as: Gracile bone dysplasia · Osteocraniosplenic syndrome
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
88
57.5th percentile
Trials
0
Interventional, condition-specific
Researchers
610
Distinct authors in sample
Gene link
FAM111A
Strong
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
Osteocraniostenosis is a lethal skeletal characterized by a cloverleaf skull anomaly, facial dysmorphism, limb shortness, splenic hypo/aplasia and radiological anomalies including thin tubular bones with flared metaphyses and deficient calvarial mineralization.
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:0011215
- MeSH:C537291
- OMIM:602361
- UMLS:C1865639
Additional Mondo synonyms (2)
gracile bone dysplasia · osteocraniostenosis
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.”
2/6 stages with a signal
No matched interventional trial; the gene is known and literature exists — preclinical or natural-history work may still be the practical next step.
- Gene identifiedPresent
Strong — FAM111A
- LiteraturePresent
88 matched papers (61 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?
Yes — we know a specific gene responsible (FAM111A).
GenCC classification: Strong.
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?
88
88 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.
88 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).
61 in the last 10 years · medium confidence · 57.5th percentile (publications denominator)
Phrase hits: 88 · MeSH hits: 0
Who's working on it?
610
Distinct author names in 88 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.
- 01Superti-Furga A5 papers · 2024
Division of Genetic Medicine, Lausanne University Hospital and University of Lausanne, Lausanne, Switzerland.
Papers in Europe PMC - 02Cormier-Daire V4 papers · 2023
Hôpital Necker-Enfants malades, AP-HP, U781, Fondation Imagine, Paris Descartes-Sorbonne Paris Cité, Service de Génétique, Paris, 75015, France. valerie.cormier-daire@inserm.fr.
Papers in Europe PMC - 03Krakow D4 papers · 2023
Department of Orthopaedic Surgery, David Geffen School of Medicine at UCLA, BSRB/OHRC 615 Charles E. Young Drive South, Room 410, Los Angeles, CA 90095, USA; Department of Human Genetics, David Geffen School of Medicine at UCLA, BSRB/OHRC 615 Charles E. Young Drive South, Room 410, Los Angeles, CA 90095, USA; Department of Obstetrics and Gynecology, David Geffen School of Medicine at UCLA, BSRB/OHRC 615 Charles E. Young Drive South, Room 410, Los Angeles, CA 90095, USA. Electronic address: dkrakow@mednet.ucla.edu.
Papers in Europe PMC - 04Li Y4 papers · 2026
Biotechnology Research Institute, Chinese Academy of Agricultural Sciences, Beijing 100081, China.
Papers in Europe PMC - 05Nishimura G4 papers · 2025
Department of Radiology, Musashino-Yowakai Hospital, Tokyo, Japan.
Papers in Europe PMC - 06Rimoin DL4 papers · 2011Papers in Europe PMC
- 07Unger S4 papers · 2023
Department of Pediatrics, Lausanne University Hospital, University of Lausanne, 1011 Lausanne, Switzerland; Medical Genetics Service, Lausanne University Hospital, University of Lausanne, 1011 Lausanne, Switzerland.
Papers in Europe PMC - 08Barbarot S3 papers · 2025
CHU Nantes, Clinique dermatologique, Hôtel Dieu, Place Alexis Ricordeau, 44000, Nantes, France. sebastien.barbarot@chu-nantes.fr.
Papers in Europe PMC - 09Bézieau S3 papers · 2025
CHU Nantes, Service de Génétique Médicale, Unité de Génétique Moléculaire, 9 quai Moncousu, 44093, Nantes CEDEX 1, France. stephane.bezieau@chu-nantes.fr.
Papers in Europe PMC - 10de Baaij JHF3 papers · 2023
Department of Physiology, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands.
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.
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.
"Osteocraniostenosis" OR "Gracile bone dysplasia" OR "Osteocraniosplenic syndrome"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Osteocraniostenosis" OR "Gracile bone dysplasia" OR "Osteocraniosplenic syndrome" OR "FAM111A"
Recall-expansion terms: FAM111A
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: suspect — strategies attempted: phrase, recall-expansion; with hits: phrase
Run this search on ClinicalTrials.gov
Confidence reasoning
- Preferred label is short or not clearly distinctive
- No synonyms dropped by stoplist
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-26T21:06:20.373Z