ORPHA:2440
Isolated split hand-split foot malformation
Also known as: Ectrodactyly · SHFM · Split hand foot malformation
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
3,269
94.5th percentile
Trials
0
Interventional, condition-specific
Researchers
1,339
Distinct authors in sample
Gene link
DYNC1I1, MAP3K20
Strong
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare, , bone development disorder characterized by a spectrum of terminal limb malformations including hypoplasia/absence of central rays of the hands and feet (that can occur in one to all four digits), variable degrees of median clefts of the hands and/or feet, aplasia and syndactyly, with a wide range of severity ranging from malformed central finger/toe to a lobster claw-like appearance of the hands and feet. It can occur as an isolated or it can be a feature in various syndromes.
How rare: 1-9 / 100 000 — about one to nine people per hundred thousand.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0016576
- UMLS:C0265554
- NCIT:C75000
Additional Mondo synonyms (5)
FEWER digits · Split Hand/Split Foot Malformation · ectrodactyly · split hand foot malformation · split-hand/foot malformation
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
Strong — DYNC1I1, MAP3K20
- LiteraturePresent
3,269 matched papers (1,500 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 (DYNC1I1, MAP3K20).
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?
3,269
3,269 papers have been published on this condition. That is a real research literature — still far smaller than common diseases (breast cancer: over 700,000 papers). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.
3,269 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).
1,500 in the last 10 years · medium confidence · 94.5th percentile (publications denominator)
Phrase hits: 3,269 · MeSH hits: 0
Who's working on it?
1,339
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.
- 01Spielmann M7 papers · 2025
Institute for Medical Genetics and Human Genetics, Charité Universitätsmedizin Berlin, Augustenburger Platz 1, Berlin, 13353, Germany
Papers in Europe PMC - 02Zhang X7 papers · 2026
Center for Reproduction and Genetics, Department of Obstetrics and Gynecology, The First Affiliated Hospital of USTC, MOE Key Laboratory for Cellular Dynamics, Hefei National Research Center for Interdisciplinary Sciences at the Microscale, Center for Advanced Interdisciplinary Science and Biomedicine of IHM, The USTC RNA Institute, Division of Life Sciences and Medicine, University of Science and Technology of China, Hefei, 230027, China. xiaofengzhang@ustc.edu.cn.
Papers in Europe PMC - 03Mundlos S6 papers · 2023
Institute for Medical Genetics and Human Genetics, Charité Universitätsmedizin Berlin, Augustenburger Platz 1, Berlin, 13353, Germany
Papers in Europe PMC - 04Ahmad W5 papers · 2024
Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan.
Papers in Europe PMC - 05Jamsheer A5 papers · 2025
Department of Medical Genetics, University of Medical Sciences, Poznan, Poland.
Papers in Europe PMC - 06Li C5 papers · 2026
Department of Gynecology and Obstetrics, Shengjing Hospital Affiliated to China Medical University, Key Laboratory of Maternal-Fetal Medicine of Liaoning Province, Shenyang, Liaoning 110004, China. 243583780@qq.com.
Papers in Europe PMC - 07Wang Y5 papers · 2026
Department of Endocrinology, Diabetology, and Metabolism, Lausanne University Hospital, Lausanne, Switzerland.
Papers in Europe PMC - 08Artinger KB4 papers · 2024
Department of Craniofacial Biology, University of Colorado Denver Anschutz Medical Campus, Aurora, CO 80045, USA.
Papers in Europe PMC - 09Escande F4 papers · 2020
Institut de Biochimie et Génétique Moléculaire, CHU Lille, Lille, France.
Papers in Europe PMC - 10Lencer E4 papers · 2024
Biology Department, Lafayette College, Easton, PA 18042, USA.
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.
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.
"Isolated split hand-split foot malformation" OR "Ectrodactyly" OR "Split hand foot malformation" OR "FEWER digits" OR "Split Hand/Split Foot Malformation" OR "split-hand/foot malformation"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Isolated split hand-split foot malformation" OR "Ectrodactyly" OR "Split hand foot malformation" OR "FEWER digits" OR "Split Hand/Split Foot Malformation" OR "split-hand/foot malformation" OR "DYNC1I1" OR "MAP3K20"
Recall-expansion terms: DYNC1I1, MAP3K20
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: suspect — strategies attempted: phrase, recall-expansion; with hits: phrase
Run this search on ClinicalTrials.gov
Synonyms dropped by stoplist: SHFM
Confidence reasoning
- Preferred label is multi-word and distinctive
- 1 synonym(s) dropped by stoplist (may under-count)
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-26T20:10:59.905Z