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ORPHA:955

Hajdu-Cheney syndrome

low confidenceDisorder

Also known as: Acroosteolysis dominant type · Acroosteolysis with osteoporosis and changes in skull and mandible · Arthrodentoosteodysplasia · Cheney syndrome

Publications

16,474

Trials

0

Interventional, condition-specific

Researchers

1,065

Distinct authors in sample

Gene link

NOTCH2

Definitive

Readiness

4/6

Stages with a signal

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.

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

Additional Mondo synonyms (7)

Hajdu Cheney Syndrome · Hajdu-Cheney syndrome-NOTCH2 · acrodentoosteodysplasia · acroosteolysis with osteoporosis and changes in skull and mandible · serpentine fibula polycystic kidney syndrome · serpentine fibula-polycystic kidney syndrome · serpentine fibula-polycystic kidneys syndrome

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.”

4/6 stages with a signal

No matched interventional trial, but a gene association and an animal model are on record — often described as translation-ready / stalled at the clinical step.

  1. Gene identifiedPresent

    Definitive — NOTCH2

  2. LiteraturePresent

    16,474 matched papers (11,586 in last 10 years) Source

  3. Phenotype characterisedPresent

    144 HPO annotations (e.g. Long philtrum; Micrognathia; Partial absence of toe) Source

  4. Animal modelPresent

    4 genotype models (Mus musculus) Source

  5. Orphan designationNot found

    No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source

  6. 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 (NOTCH2).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

144

Associated phenotypes · MONDO:0007057

  • Long philtrum
  • Micrognathia
  • Partial absence of toe
  • Narrow mouth
  • Hearing impairment

Showing 5 of 144 — open Monarch for the full list.

Animal models (Monarch / Alliance)

4

Model associations linked to this Mondo ID

Monarch fetch 2026-07-27

Therapies

Designations, candidates, and chemicals

FDA OOPD and EMA orphan designations, Open Targets clinical candidates, and CTD chemical associations via MyDisease.info. These never change the interventional-trial headline.

Orphan designation (FDA · EMA)

No designation matched this disease via UMLS or preferred name on the FDA OOPD mirror or EMA orphan register. Absence here is not proof that none exists under another wording.

Open Targets candidates

No drugs or clinical candidates returned for this Mondo ID on Open Targets.

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

16,474

16,474 papers — among the better-studied rare conditions, though still a fraction of common-disease literature (breast cancer: over 700,000). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

16,474 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 59 (publications denominator n=3967).

11,586 in the last 10 years · low confidence

Phrase hits: 551 · MeSH hits: 3

Open Europe PMC search

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.

  1. 01
    Canalis E20 papers · 2026

    Departments of Orthopaedic Surgery, UConn Musculoskeletal Institute, UConn Health, Farmington, CT, USA.

    Papers in Europe PMC
  2. 02
    Yu J12 papers · 2026

    Departments of Orthopaedic Surgery, UConn Musculoskeletal Institute, UConn Health, Farmington, CT, USA.

    Papers in Europe PMC
  3. 03
    Schilling L11 papers · 2026

    From the Departments of Orthopaedic Surgery.

    Papers in Europe PMC
  4. 04
    Zanotti S8 papers · 2018

    Departments of Orthopaedic Surgery, UConn Musculoskeletal Institute, UConn Health, Farmington, CT, USA.

    Papers in Europe PMC
  5. 05
    Denker E5 papers · 2026

    UConn Musculoskeletal Institute, UConn Health, Farmington, CT 06030, United States of America.

    Papers in Europe PMC
  6. 06
    Bertola 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
  7. 07
    Cortés-Martín J4 papers · 2022

    Research Group CTS1068, Andalusia Research Plan, Junta de Andalucía, 18014 Granada, Spain.

    Papers in Europe PMC
  8. 08
    Díaz-Rodríguez L4 papers · 2022

    Research Group CTS1068, Andalusia Research Plan, Junta de Andalucía, 18014 Granada, Spain.

    Papers in Europe PMC
  9. 09
    Irving 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
  10. 10
    Li 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

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 9 September 2026 · last trial check 9 September 2026

No matched interventional trials. This is true for 77.2% of diseases in the trials denominator (5501 of 7126). Here are the researchers publishing on it.

low confidence · 38.6th 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.

Other registries (secondary)

Broader net from EU CTIS, ISRCTN, and ICTRP when available — deduped against ClinicalTrials.gov IDs already counted above. Dual-model LLM relevance gates what we keep. These rows are not added to the interventional headline.

raw 0 · after dedupe 0 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 0 · dropped 0 · fetched 2026-07-27

Source notes: ictrp: Error: ICTRP public search unavailable (WHO portal is SPA-only; SOAP needs partnership). Tried: https://apps.who.int/tri

No secondary-registry studies passed dual-model relevance for this condition name (after dedupe).

Where to find support

Condition-specific patient organisations, when Orphanet lists them, are on the disease’s Orphanet page. We also link umbrella groups that support undiagnosed and ultra-rare families.

Orphanet entry for Hajdu-Cheney syndrome — check Associations / patient organisations on that page.

India — NPRD

Last verified 2026-07-26

This 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.

("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 (MESH:"Acroosteolysis dominant type" OR MESH:"Serpentine fibula polycystic kidney syndrome") OR ("NOTCH2" OR "NOTCH2 syndrome" OR "NOTCH2-related")

Run this search on Europe PMC

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"

Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.

Query health: ok — strategies attempted: phrase, mesh; with hits: phrase, mesh

Run this search on ClinicalTrials.gov

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • No synonyms dropped by stoplist
  • "serpentine fibula-polycystic kidneys syndrome" also appears on ORPHA:2853
  • Publication count (16474) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-26T02:29:04.480Z