ORPHA:63446
Acrocapitofemoral dysplasia
Publications
76
51.6th percentile
Trials
0
Interventional, condition-specific
Researchers
554
Distinct authors in sample
Gene link
IHH
Definitive
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare skeletal , characterized clinically by short stature of variable degrees with short limbs, brachydactyly and narrow thorax.
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:0011907
- MeSH:C564334
- OMIM:607778
- UMLS:C1843096
Additional Mondo synonyms (1)
acrocapitofemoral 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
No matched interventional trial; the gene is known and literature exists — preclinical or natural-history work may still be the practical next step.
- Gene identifiedPresent
Definitive — IHH
- LiteraturePresent
76 matched papers (45 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?
Yes — we know a specific gene responsible (IHH).
GenCC classification: Definitive.
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?
76
76 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.
76 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).
45 in the last 10 years · high confidence · 51.6th percentile (publications denominator)
Phrase hits: 76 · MeSH hits: 5
Who's working on it?
554
Distinct author names in 76 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.
- 01Mundlos S6 papers · 2023
Institut für medizinische Genetik und Humangenetik, Charité - Universitätsmedizin Berlin, Berlin, Germany.
Papers in Europe PMC - 02Cormier-Daire V5 papers · 2023
Paris Cité University, Reference Center for Skeletal Dysplasia, INSERM UMR 1163, Imagine Institute, Necker Enfants Malades Hospital (AP-HP), Paris, France.
Papers in Europe PMC - 03Chan D4 papers · 2024
School of Biomedical Sciences, The University of Hong Kong, Pokfulam, Hong Kong, China. chand@hku.hk.
Papers in Europe PMC - 04Mortier GR4 papers · 2023
Center for Human Genetics, University Hospital Leuven and KU Leuven, Leuven, Belgium.
Papers in Europe PMC - 05Superti-Furga A4 papers · 2025
Division of Genetic Medicine, Lausanne University Hospital and University of Lausanne, Lausanne, Switzerland.
Papers in Europe PMC - 06Wang Y4 papers · 2025
National Engineering Laboratory for Animal Breeding and MOA Key Laboratory of Animal Genetics and Breeding, China Agricultural University, Beijing 100193, China.
Papers in Europe PMC - 07He L3 papers · 2021
Key Laboratory for the Genetics of Developmental and Neuropsychiatric Disorders (Ministry of Education), Bio-X Institutes, Shanghai Jiao Tong University, Shanghai 200240, China.
Papers in Europe PMC - 08Ma G3 papers · 2021
Bio-X Center, Key Laboratory for the Genetics of Developmental and Neuropsychiatric Disorders (Ministry of Education), Shanghai Jiao Tong University, Shanghai 200030, China.
Papers in Europe PMC - 09Nishimura G3 papers · 2023
Department of Radiology, Musashino-Yowakai Hospital, Tokyo, Japan.
Papers in Europe PMC - 10Savarirayan R3 papers · 2023
Murdoch Children's Research Institute and University of Melbourne, Parkville, Victoria, Australia.
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 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.
high 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.
"Acrocapitofemoral dysplasia"
MeSH descriptor terms unioned into the query: Acrocapitofemoral Dysplasia
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Acrocapitofemoral dysplasia" OR "IHH"
Recall-expansion terms: IHH
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
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
Ingested 2026-07-27T01:07:39.484Z