ORPHA:974
Adams-Oliver syndrome
Also known as: AOS · Aplasia cutis congenita with distal limb anomalies · Aplasia cutis congenita with terminal transverse limb defects · Congenital scalp defects with distal limb anomalies · Congenital scalp defects with distal limb reduction anomalies
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
660
88.8th percentile
Trials
0
Interventional, condition-specific
Researchers
1,209
Distinct authors in sample
Gene link
DOCK6, NOTCH1
Definitive
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare multiple anomalies/ syndrome characterized by the combination of distal limb reduction and scalp defects, often accompanied by skull ossification defects.
How rare: 1-9 / 1 000 000 — roughly one to nine people per million. In a city the size of Kolkata, perhaps a few dozen.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0007034
- MeSH:C538225
- UMLS:C0265268
Additional Mondo synonyms (3)
congenital scalp defects with distal limb anomalies · congenital scalp defects with distal limb reduction anomalies · limb, scalp and skull defects
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 — DOCK6, NOTCH1
- LiteraturePresent
660 matched papers (426 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 (DOCK6, NOTCH1).
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?
660
660 papers have been published on this condition. That is a real research literature — still far smaller than common diseases (breast cancer: over 700,000 papers). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.
660 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).
426 in the last 10 years · medium confidence · 88.8th percentile (publications denominator)
Phrase hits: 660 · MeSH hits: 0
Who's working on it?
1,209
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.
- 01Okajima T6 papers · 2026
Department of Molecular Biochemistry, Nagoya University Graduate School of Medicine, 65 Tsurumai, Showa-ku, Nagoya 466-8550, Japan. Electronic address: tokajima@med.nagoya-u.ac.jp.
Papers in Europe PMC - 02Southgate L5 papers · 2025
Division of Genetics and Molecular Medicine, King's College London, London, UK; Barts and the London School of Medicine and Dentistry, Queen Mary University of London, London, UK.
Papers in Europe PMC - 03Wang J5 papers · 2026
Department of Medical Genetics and Prenatal Diagnosis, Sichuan Provincial Maternity and Child Health Care Hospital, Chengdu, China.
Papers in Europe PMC - 04Wuyts W5 papers · 2022
Department of Medical Genetics, University of Antwerp and University Hospital of Antwerp, Edegem, Belgium.
Papers in Europe PMC - 05Zenker M5 papers · 2022
Institute of Human Genetics, University Hospital Magdeburg, Magdeburg, Germany.
Papers in Europe PMC - 06Gagliani EK4 papers · 2025
Department of Molecular Genetics, Biochemistry and Microbiology, University of Cincinnati College of Medicine, Cincinnati, Ohio, United States of America.
Papers in Europe PMC - 07Gebelein B4 papers · 2025
Division of Developmental Biology, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, United States of America.
Papers in Europe PMC - 08Lehman A4 papers · 2026
Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada.
Papers in Europe PMC - 09Wang Y4 papers · 2025
The First School of Clinical Medicine, Southern Medical University, Guangzhou, Guangdong, China.
Papers in Europe PMC - 10Breckpot J3 papers · 2026
Center for Human Genetics, Catholic University Leuven, Belgium (S.B., J.B., K.D.).
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.
"Adams-Oliver syndrome" OR "Aplasia cutis congenita with distal limb anomalies" OR "Aplasia cutis congenita with terminal transverse limb defects" OR "Congenital scalp defects with distal limb anomalies" OR "Congenital scalp defects with distal limb reduction anomalies" OR "limb, scalp and skull defects"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Adams-Oliver syndrome" OR "Aplasia cutis congenita with distal limb anomalies" OR "Aplasia cutis congenita with terminal transverse limb defects" OR "Congenital scalp defects with distal limb anomalies" OR "Congenital scalp defects with distal limb reduction anomalies" OR "limb, scalp and skull defects" OR "DOCK6"
Recall-expansion terms: DOCK6
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
Synonyms dropped by stoplist: AOS
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 2026-07-26T16:04:37.460Z