ORPHA:955
Hajdu-Cheney syndrome
Also known as: Acroosteolysis dominant type · Acroosteolysis with osteoporosis and changes in skull and mandible · Arthrodentoosteodysplasia · Cheney syndrome
Clinical definition (Orphanet)
A rare skeletal disorder, characterized by bone resorption in the distal phalanges (acro-osteolysis), osteoporosis, distinct craniofacial changes, dental anomalies, and occasional association with renal abnormalities.
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.
Is anyone studying this?
551
551 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=183) is 38.
551 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 38 (publications denominator n=183).
309 in the last 10 years · low confidence
Is a treatment being tested?
0
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 26 July 2026
No matched interventional trials. This is true for 59.2% of diseases in the trials denominator (151 of 255). Here are the researchers publishing on it.
low confidence · 29.6th percentile (trials denominator)
Do we know what causes it?
Yes — we know a specific gene responsible (NOTCH2).
GenCC classification: Definitive.
Who's working on it?
1,065
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.
- 01Canalis E20 papers · 2026
Departments of Orthopaedic Surgery, UConn Musculoskeletal Institute, UConn Health, Farmington, CT, USA.
Papers in Europe PMC - 02Yu J12 papers · 2026
Departments of Orthopaedic Surgery, UConn Musculoskeletal Institute, UConn Health, Farmington, CT, USA.
Papers in Europe PMC - 03
- 04Zanotti S8 papers · 2018
Departments of Orthopaedic Surgery, UConn Musculoskeletal Institute, UConn Health, Farmington, CT, USA.
Papers in Europe PMC - 05Denker E5 papers · 2026
UConn Musculoskeletal Institute, UConn Health, Farmington, CT 06030, United States of America.
Papers in Europe PMC - 06Bertola DR4 papers · 2025
Unidade de Genética, Instituto da Criança, Hospital das Clínicas da Faculdade de Medicina, Universidade de São Paulo, São Paulo, Brazil.
Papers in Europe PMC - 07Cortés-Martín J4 papers · 2022
Research Group CTS1068, Andalusia Research Plan, Junta de Andalucía, 18014 Granada, Spain.
Papers in Europe PMC - 08Díaz-Rodríguez L4 papers · 2022
Research Group CTS1068, Andalusia Research Plan, Junta de Andalucía, 18014 Granada, Spain.
Papers in Europe PMC - 09Irving MD4 papers · 2019
Department of Clinical Genetics, Guy's and St Thomas' NHS Foundation Trust, Great Maze Pond, London, SE1 9RT, UK.
Papers in Europe PMC - 10Li Y4 papers · 2025
Department of Pharmacology, Tianjin Key Laboratory of Inflammatory Biology, Center for Cardiovascular Diseases, Haihe Laboratory of Cell Ecosystem, Key Laboratory of Immune Microenvironment and Disease (Ministry of Education), The Province and Ministry Co-sponsored Collaborative Innovation Center for Medical Epigenetics, Key Laboratory of Experimental Hematology, School of Basic Medical Sciences, Tianjin Medical University, Tianjin, China.
Papers in Europe PMC
Recruiting interventional trials
Trials testing a treatment 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 above — 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 below but are not added to the query string.
"Hajdu-Cheney syndrome" OR "Acroosteolysis dominant type" OR "Acroosteolysis with osteoporosis and changes in skull and mandible" OR "Arthrodentoosteodysplasia" OR "Cheney syndrome" OR "Hajdu Cheney Syndrome" OR "Hajdu-Cheney syndrome-NOTCH2" OR "acrodentoosteodysplasia" OR "serpentine fibula polycystic kidney syndrome" OR "serpentine fibula-polycystic kidney syndrome" OR "serpentine fibula-polycystic kidneys syndrome"
MeSH descriptor terms unioned into the query: Acroosteolysis dominant type; Serpentine fibula polycystic kidney syndrome
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Hajdu-Cheney syndrome" OR "Acroosteolysis dominant type" OR "Acroosteolysis with osteoporosis and changes in skull and mandible" OR "Arthrodentoosteodysplasia" OR "Cheney syndrome" OR "Hajdu Cheney Syndrome" OR "Hajdu-Cheney syndrome-NOTCH2" OR "acrodentoosteodysplasia" OR "serpentine fibula polycystic kidney syndrome" OR "serpentine fibula-polycystic kidney syndrome" OR "serpentine fibula-polycystic kidneys syndrome" OR "NOTCH2"
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Cross-references (from Mondo): MESH:C531695 MESH:C535663 MESH:C537586 OMIM:102500 UMLS:C0917715 NCIT:C84745
Query health: ok — strategies attempted: phrase, mesh, recall-expansion; with hits: phrase, mesh
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
- Publication count (551) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity