ORPHA:85172
Microcephalic osteodysplastic dysplasia, Saul-Wilson type
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
78
56.2th percentile
Trials
0
Interventional, condition-specific
Researchers
465
Distinct authors in sample
Gene link
COG4
Definitive
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
Microcephalic osteodysplastic , Saul-Wilson type is a skeletal characterized by a distinct facial , short stature, brachydactyly, clubfoot deformities, cataracts, and microcephaly. It has been described in four patients. Facial features include frontal bossing with a depression over the metopic suture, a narrow nasal root with a beaked nose, and midfacial hypoplasia with prominent eyes. Characteristic radiographic findings are observed (irregularities of the vertebral bodies, hypoplasia of the odontoid process, short phalanges, coning several epiphyses etc.).
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:0019407
- OMIM:618150
- UMLS:C4509877
Additional Mondo synonyms (4)
SWILS · Saul-Wilson syndrome · microcephalic osteodysplastic dysplasia · microcephalic osteodysplastic dysplasia, Saul-Wilson 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.”
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
Definitive — COG4
- LiteraturePresent
78 matched papers (58 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 (COG4).
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?
78
78 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.
78 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).
58 in the last 10 years · high confidence · 56.2th percentile (publications denominator)
Phrase hits: 78 · MeSH hits: 0
Who's working on it?
465
Distinct author names in 78 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.
- 01Freeze HH10 papers · 2026
Human Genetics Program, Sanford Burnham Prebys Medical Discovery Institute, La Jolla, CA 92037, USA.
Papers in Europe PMC - 02Ng BG8 papers · 2024
Human Genetics Program, Sanford Burnham Prebys Medical Discovery Institute, La Jolla, CA 92037, USA.
Papers in Europe PMC - 03Ferreira CR6 papers · 2026
Skeletal Genomics Unit, Metabolic Medicine Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.
Papers in Europe PMC - 04Xia ZJ5 papers · 2023
Human Genetics Program, Sanford Burnham Prebys Medical Discovery Institute, La Jolla, CA, United States.
Papers in Europe PMC - 05Jaeken J4 papers · 2023
Department of Development and Regeneration, Center for Metabolic Diseases, University Hospital Gasthuisberg, KU Leuven, Leuven, Belgium.
Papers in Europe PMC - 06Nishimura G4 papers · 2023
Department of Radiology, Musashino-Yowakai Hospital, Tokyo, Japan.
Papers in Europe PMC - 07Wegiel J4 papers · 2014
Department of Developmental Neurobiology, NYS Institute for Basic Research in Developmental Disabilities, 1050 Forest Hill Road, Staten Island, NY 10314, USA. jerzy.wegiel@opwdd.ny.gov.
Papers in Europe PMC - 08Bober MB3 papers · 2020
Division of Orthogenetics, A.I. duPont Hospital for Children, Wilmington, DE, 19803, USA.
Papers in Europe PMC - 09Duker AL3 papers · 2020
Division of Orthogenetics, A.I. duPont Hospital for Children, Wilmington, DE, 19803, USA.
Papers in Europe PMC - 10Gahl WA3 papers · 2022
Office of the Clinical Director, National Human Genome Research Institute (NHGRI), NIH, Bethesda, Maryland, USA.
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.
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.
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
- NCT04569149·RECRUITING·Primordial Dwarfism Registry
Conditions: MOPDII · Meier-Gorlin Syndrome · Saul-Wilson Syndrome · Microcephalic Primordial Dwarfism·Matched via name phrase
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.
"Microcephalic osteodysplastic dysplasia, Saul-Wilson type" OR "SWILS" OR "Saul-Wilson syndrome" OR "microcephalic osteodysplastic dysplasia"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Microcephalic osteodysplastic dysplasia, Saul-Wilson type" OR "SWILS" OR "Saul-Wilson syndrome" OR "microcephalic osteodysplastic dysplasia" OR "COG4"
Recall-expansion terms: COG4
Study-type breakdown: 0 interventional · 1 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 multi-word and distinctive
- No synonyms dropped by stoplist
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-27T02:46:49.749Z