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ORPHA:1517

Cantú syndrome

low confidenceDisorder

Also known as: Congenital hypertrichosis-acromegaloid facial features spectrum · Congenital hypertrichosis-coarse facial features spectrum · Hypertrichotic osteochondrodysplasia

Publications

8,587

Trials

0

Interventional, condition-specific

Researchers

1,101

Distinct authors in sample

Gene link

ABCC9, KCNJ8

Definitive

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

Cantu syndrome is a rare disorder characterized by hypertrichosis, osteochondrodysplasia, cardiomegaly, and dysmorphism.

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 (2)

Cantu syndrome · hypertrichotic osteochondrodysplasia (Cantu 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 — ABCC9, KCNJ8

  2. LiteraturePresent

    8,587 matched papers (5,410 in last 10 years) Source

  3. Phenotype characterisedPresent

    78 HPO annotations (e.g. Epicanthus; Gingival overgrowth; Macrocephaly) Source

  4. Animal modelPresent

    8 genotype models (Danio rerio, 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 (ABCC9, KCNJ8).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

78

Associated phenotypes · MONDO:0009406

  • Epicanthus
  • Gingival overgrowth
  • Macrocephaly
  • Large for gestational age
  • Enlarged posterior fossa

Showing 5 of 78 — open Monarch for the full list.

Animal models (Monarch / Alliance)

8

Model associations linked to this Mondo ID

Monarch fetch 2026-07-29

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?

8,587

8,587 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.

8,587 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).

5,410 in the last 10 years · low confidence

Phrase hits: 678 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,101

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
    Nichols CG45 papers · 2026

    Department of Cell Biology and Physiology, and Center for the Investigation of Membrane Excitability Diseases (CIMED), Washington University, St Louis, MO, 63110, USA.

    Papers in Europe PMC
  2. 02
    McClenaghan C24 papers · 2026

    Department of Cell Biology and Physiology, and Center for the Investigation of Membrane Excitability Diseases (CIMED), Washington University, St Louis, MO, 63110, USA.

    Papers in Europe PMC
  3. 03
    Grange DK19 papers · 2026

    Department of Pediatrics, Division of Genetics and Genomic Medicine, Washington University School of Medicine, St. Louis, Missouri 63110, USA. grange_d@kids.wustl.edu

    Papers in Europe PMC
  4. 04
    van Haaften G13 papers · 2026

    Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, 3584 CX, Utrecht, the Netherlands. G.vanHaaften@umcutrecht.nl.

    Papers in Europe PMC
  5. 05
    Roessler HI10 papers · 2025

    Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, 3584 CX, Utrecht, the Netherlands.

    Papers in Europe PMC
  6. 06
    van Haelst MM10 papers · 2026

    Department of Clinical Genetics, Amsterdam Medical Center, University of Amsterdam.

    Papers in Europe PMC
  7. 07
    Remedi MS9 papers · 2022

    Department of Medicine, Division of Endocrinology, Metabolism and Lipid Research, Washington University, St Louis, MO, 63110, USA.

    Papers in Europe PMC
  8. 08
    Singh GK8 papers · 2022

    Center for the Investigation of Membrane Excitability Diseases, Washington University School of Medicine, St. Louis, MO 63110; Department of Pediatrics, Washington University School of Medicine, St. Louis, MO 63110;

    Papers in Europe PMC
  9. 09
    Maqoud F7 papers · 2025

    Functional Gastrointestinal Disorders Research Group, National Institute of Gastroenterology Saverio de Bellis, I.R.C.C.S. Research Hospital, Milan, Italy.

    Papers in Europe PMC
  10. 10
    Tricarico D7 papers · 2025

    Section of Pharmacology, Department of Pharmacy-Pharmaceutical Sciences, University of Bari "Aldo Moro", Bari, Italy.

    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 11 September 2026 · last trial check 11 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 2026-07-29

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 Cantú 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.

("Cantú syndrome" OR "Congenital hypertrichosis-acromegaloid facial features spectrum" OR "Congenital hypertrichosis-coarse facial features spectrum" OR "Hypertrichotic osteochondrodysplasia" OR "Cantu syndrome" OR "hypertrichotic osteochondrodysplasia (Cantu syndrome)") OR ("ABCC9" OR "ABCC9 syndrome" OR "ABCC9-related" OR "KCNJ8" OR "KCNJ8 syndrome" OR "KCNJ8-related")

Run this search on Europe PMC

ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):

"Cantú syndrome" OR "Congenital hypertrichosis-acromegaloid facial features spectrum" OR "Congenital hypertrichosis-coarse facial features spectrum" OR "Hypertrichotic osteochondrodysplasia" OR "Cantu syndrome" OR "hypertrichotic osteochondrodysplasia (Cantu syndrome)"

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

Query health: ok — strategies attempted: phrase; 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
  • Publication count (8587) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-26T17:37:13.537Z