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ORPHA:221054

Acrocephalopolydactyly

medium confidenceDisorder

Also known as: Acrocephalopolydactylous dysplasia · Elejalde acrocephalopolydactyly

Query health: suspect — Only one of 2 strategies returned hits (phrase).

Publications

96

44.7th percentile

Trials

0

Interventional, condition-specific

Researchers

499

Distinct authors in sample

Gene link

—

Readiness

2/6

Stages with a signal

Clinical definition (Orphanet)

An extremely rare lethal disorder characterized by massive birth weight, swollen globular body, generalized edema, short limbs, postaxial polydactyly, thick skin, facial dysmorphism (slanted palpebral fissures, hypertelorism, epicanthic folds, dysplastic ears), excessive connective tissue, renal , and in some patients, organomegaly, craniosynostosis with acrocephaly, omphalocele, cleft palate, and cryptorchidism. Fewer than 10 cases have been reported to date.

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)

Elejalde syndrome · acrocephalopolydactylous dysplasia

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

Research-stage checklist from open sources (GenCC, literature, Monarch when enriched, ClinicalTrials.gov). Not a prognosis or care recommendation.

  1. Gene identifiedNot found

    No GenCC disease–gene assertion in this build

  2. LiteraturePresent

    96 matched papers (39 in last 10 years) Source

  3. Phenotype characterisedPresent

    43 HPO annotations (e.g. Epicanthus; Hypertelorism; Short neck) Source

  4. Animal modelNot found

    No Alliance genotype “model of” associations via Monarch for these Mondo IDs

  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?

Not yet — the cause hasn't been pinned down in GenCC.

No strong gene–disease assertion joined for this Orphanet entity.

Phenotypes (Monarch / HPO)

43

Associated phenotypes · MONDO:0008709

  • Epicanthus
  • Hypertelorism
  • Short neck
  • Brachydactyly
  • Protuberant abdomen

Showing 5 of 43 — open Monarch for the full list.

Animal models (Monarch / Alliance)

None returned for this Mondo ID. Empty here is not proof that no model organism work exists under another name or gene.

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?

96

96 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=3967) is 59.

96 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).

39 in the last 10 years · medium confidence · 44.7th percentile (publications denominator)

Phrase hits: 96 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

499

Distinct author names in 96 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
    Gahl WA4 papers · 2023

    National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA.

    Papers in Europe PMC
  2. 02
    de Saint Basile G3 papers · 2012

    Unité de Recherche sur le Développement Normal et Pathologique du Système Immunitaire INSERM U429 and Unité dImmuno-Hématologie et Rhumatologie Pédiatriques, Hôpital Necker-Enfants Malades, Paris, France

    Papers in Europe PMC
  3. 03
    Benajiba N2 papers · 2024

    Pediatric Hematology, Centre Hospitalier Universitaire (CHU) Mohammed VI Oujda, Oujda, MAR.

    Papers in Europe PMC
  4. 04
    Dionisi-Vici C2 papers · 2025

    Division of Metabolism and Laboratory of Molecular Medicine, Bambino Gesu Children's Hospital IRCCS, Rome, Italy.

    Papers in Europe PMC
  5. 05
    Espreafico EM2 papers · 2024

    Department of Cell and Molecular Biology, Faculty of Medicine of Ribeirão Preto, University of São Paulo, Ribeirão Preto, São Paulo, Brazil mario.murakami@ctbe.cnpem.br priscila.giuseppe@ctbe.cnpem.br emespre@fmrp.usp.br.

    Papers in Europe PMC
  6. 06
    Gunay-Aygun M2 papers · 2023

    Human Biochemical Genetics Section, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, United States.

    Papers in Europe PMC
  7. 07
    Huizing M2 papers · 2008

    Cell Biology of Metabolic Disorders Unit, National Institutes of Health, Bethesda, Maryland 20892, USA. mhuizing@mail.nih.gov

    Papers in Europe PMC
  8. 08
    Jungbluth H2 papers · 2025

    Department of Paediatric Neurology, Neuromuscular Service, Evelina's Children Hospital, Guy's & St. Thomas' Hospital NHS Foundation Trust, London, UK. Heinz.Jungbluth@gstt.nhs.uk.

    Papers in Europe PMC
  9. 09
    Lingappa L2 papers · 2022

    Department of Pediatrics, Division of Pediatric Neurology, Rainbow Children's Tertiary Care Centre, Hyderabad, Telangana, India.

    Papers in Europe PMC
  10. 10
    Metin A2 papers · 2012
    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.

medium 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 2026-07-30

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 Acrocephalopolydactyly — 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.

"Acrocephalopolydactyly" OR "Acrocephalopolydactylous dysplasia" OR "Elejalde acrocephalopolydactyly" OR "Elejalde syndrome"

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Acrocephalopolydactylous Dysplasia

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

"Acrocephalopolydactyly" OR "Acrocephalopolydactylous dysplasia" OR "Elejalde acrocephalopolydactyly" OR "Elejalde syndrome"

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

Query health: suspect — strategies attempted: phrase, mesh; 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

Ingested 2026-07-27T09:55:27.079Z