ORPHA:221054
Acrocephalopolydactyly
Also known as: Acrocephalopolydactylous dysplasia · Elejalde acrocephalopolydactyly
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
96
49.1th percentile
Trials
0
Interventional, condition-specific
Researchers
499
Distinct authors in sample
Gene link
—
Readiness
1/6
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.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0008709
- MeSH:C573722
- OMIM:200995
- UMLS:C3495588
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.”
1/6 stages with a signal
Research-stage checklist from open sources (GenCC, literature, Monarch when enriched, ClinicalTrials.gov). Not a prognosis or care recommendation.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
96 matched papers (39 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?
Not yet — the cause hasn't been pinned down in GenCC.
No strong gene–disease assertion joined for this Orphanet entity.
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?
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=5449) is 41.
96 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).
39 in the last 10 years · medium confidence · 49.1th percentile (publications denominator)
Phrase hits: 96 · MeSH hits: 0
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.
- 01Gahl WA4 papers · 2023
National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA.
Papers in Europe PMC - 02de 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 - 03Benajiba N2 papers · 2024
Pediatric Hematology, Centre Hospitalier Universitaire (CHU) Mohammed VI Oujda, Oujda, MAR.
Papers in Europe PMC - 04Dionisi-Vici C2 papers · 2025
Division of Metabolism and Laboratory of Molecular Medicine, Bambino Gesu Children's Hospital IRCCS, Rome, Italy.
Papers in Europe PMC - 05Espreafico 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 - 06Gunay-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 - 07Huizing 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 - 08Jungbluth 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 - 09Lingappa L2 papers · 2022
Department of Pediatrics, Division of Pediatric Neurology, Rainbow Children's Tertiary Care Centre, Hyderabad, Telangana, India.
Papers in Europe PMC - 10Metin A2 papers · 2012Papers 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.
"Acrocephalopolydactyly" OR "Acrocephalopolydactylous dysplasia" OR "Elejalde acrocephalopolydactyly" OR "Elejalde syndrome"
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