ORPHA:168796
Heart-hand syndrome, Slovenian type
Also known as: Atriodigital dysplasia, Slovenian type · Cardiac conduction disease-dilated cardiomyopathy-brachydactyly syndrome
Publications
44
40.6th percentile
Trials
5
Interventional, condition-specific
Researchers
356
Distinct authors in sample
Gene link
LMNA
Strong
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
A rare form of heart-hand syndrome that is characterized by adult onset, cardiac conduction disease, tachyarrhythmias that can lead to sudden death, dilated and brachydactyly, with the hands less severely affected than the feet. Muscle weakness and/or myopathic electromyographic findings have been observed in some cases.
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:0012417
- MeSH:C535852
- OMIM:610140
- UMLS:C1857829
Additional Mondo synonyms (2)
atriodigital dysplasia, Slovenian type · heart-hand syndrome, Slovenian type
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.”
3/6 stages with a signal
An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.
- Gene identifiedPresent
Strong — LMNA
- LiteraturePresent
44 matched papers (25 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 trialPresent
5 matched on ClinicalTrials.gov (3 recruiting in sample)
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 (LMNA).
GenCC classification: Strong.
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?
44
44 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.
44 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).
25 in the last 10 years · high confidence · 40.6th percentile (publications denominator)
Phrase hits: 44 · MeSH hits: 2
Who's working on it?
356
Distinct author names in 44 sampled papers — named people below.
Who's working on it?
People publishing on this condition (sampled Europe PMC records). Affiliation is the most recent found in that sample.
- 01Bundgaard H2 papers · 2020
Copenhagen University Hospital Rigshospitalet, Denmark (A.A.R., H.B.).
Papers in Europe PMC - 02
- 03Rzepecki R2 papers · 2019
Laboratory of Nuclear Proteins, Faculty of Biotechnology, University of Wroclaw, Fryderyka Joliot-Curie 14a, 50-383 Wroclaw, Poland. ryszard.rzepecki@uwr.edu.pl.
Papers in Europe PMC - 04Abhyankar A1 paper · 2026
Molecular Diagnostics, New York Genome Center, New York, NY 10013, USA.
Papers in Europe PMC - 05
- 06Afaneh C1 paper · 2026
Department of Surgery, Weill Cornell Medicine, New York, NY 10065, USA.
Papers in Europe PMC - 07Ahmad S1 paper · 2024
Department of Internal Medicine East Carolina University Greenville North Carolina USA.
Papers in Europe PMC - 08Al-Shahi Salman R1 paper · 2023
Centre for Clinical Brain Sciences, University of Edinburgh, Edinburgh, United Kingdom.
Papers in Europe PMC - 09
- 10Alonso LC1 paper · 2026
Division of Endocrinology, Department of Medicine, Weill Cornell Medicine, New York, NY 10021, USA.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
5
interventional trials for this specific condition
5 interventional trials matched this specific condition name; 3 currently recruiting in our sample.
Data as of 27 July 2026
5 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 87.9th percentile).
high confidence · 87.9th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
5 interventional trials matched after quoted-phrase search and title/condition post-filter.
- NCT05394506·RECRUITING·Modifying Factors in Striated Muscle Laminopathies
Conditions: Laminopathies · Emery Dreifuss Muscular Dystrophy 2 · LMNA-Related Congenital Muscular Dystrophy · Dilated Cardiomyopathy-1A·Matched via recall expansion
- NCT07606274·RECRUITING·A Study With NVC-001 in Patients With LMNA-related Dilated Cardiomyopathy (SUNBEAM-LMNA)
Conditions: LMNA-Related Dilated Cardiomyopathy·Matched via recall expansion
- NCT07412028·NOT YET RECRUITING·Identification of Women With Severe Insulin Resistant Syndromes of Genetic Origin Among Patients With "Classic" Polycystic Ovary Syndrome (PCOS)
Conditions: Polycystic Ovary Syndrome · Familial Partial Lipodystrophy · LMNA (LaMin Nuclear A) Related Disorders·Matched via recall expansion
Observational and natural-history studies
1 observational study matches this condition. These do not test a treatment and are not counted in the interventional-trial headline, but they are genuine research: natural-history work often defines the endpoints needed for a future rare-disease trial, and families may be able to enroll.
Recruiting or not-yet-recruiting
- NCT01403402·RECRUITING·Congenital Muscle Disease Study of Patient and Family Reported Medical Information
Conditions: Congenital Muscular Dystrophy With ITGA7 (Integrin Alpha-7) Deficiency · Alpha-Dystroglycanopathy (Congenital Muscular Dystrophy and Abnormal Glycosylation of Dystroglycan With Severe Epilepsy) · Alpha-Dystroglycanopathy (Congenital Muscular Dystrophy With Fatty Liver and Infantile-onset Cataract Caused by TRAPPC11 Mutations) · Alpha-Dystroglycanopathy (Congenital Muscular Dystrophy With Hypoglycosylation of Dystroglycan)·Matched via recall expansion
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.
"Heart-hand syndrome, Slovenian type" OR "Atriodigital dysplasia, Slovenian type" OR "Cardiac conduction disease-dilated cardiomyopathy-brachydactyly syndrome"
MeSH descriptor terms unioned into the query: Heart-hand syndrome, Slovenian type
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Heart-hand syndrome, Slovenian type" OR "Atriodigital dysplasia, Slovenian type" OR "Cardiac conduction disease-dilated cardiomyopathy-brachydactyly syndrome" OR "LMNA"
Recall-expansion terms: LMNA
Interventional trials matched via: recall-expansion (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).
Study-type breakdown: 5 interventional · 1 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: ok — strategies attempted: phrase, mesh, recall-expansion; with hits: phrase, mesh, recall-expansion
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 2026-07-27T08:30:27.442Z