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ORPHA:2440

Isolated split hand-split foot malformation

medium confidenceDisorder

Also known as: Ectrodactyly · SHFM · Split hand foot malformation

Publications

4,100

90.7th percentile

Trials

0

Interventional, condition-specific

Researchers

1,339

Distinct authors in sample

Gene link

DYNC1I1, MAP3K20

Strong

Readiness

4/6

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.

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

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.”

4/6 stages with a signal

No matched interventional trial, but a gene association and an animal model are on record — often described as translation-ready / stalled at the clinical step.

  1. Gene identifiedPresent

    Strong — DYNC1I1, MAP3K20

  2. LiteraturePresent

    4,100 matched papers (2,175 in last 10 years) Source

  3. Phenotype characterisedPresent

    86 HPO annotations (e.g. Posteriorly rotated ears; Microretrognathia; Hypoplasia of the maxilla) Source

  4. Animal modelPresent

    7 genotype models (Mus musculus) Source

  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?

Yes — we know a specific gene responsible (DYNC1I1, MAP3K20).

GenCC classification: Strong.

Phenotypes (Monarch / HPO)

86

Associated phenotypes · MONDO:0016576

  • Posteriorly rotated ears
  • Microretrognathia
  • Hypoplasia of the maxilla
  • Abnormality of chromosome segregation
  • Oligodactyly

Showing 5 of 86 — open Monarch for the full list.

Animal models (Monarch / Alliance)

7

Model associations linked to this Mondo ID

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)

2 associated chemicals · 1 pathway. Therapeutic evidence is listed first when present — not a treatment recommendation.

  • Cadmium Chloride · marker/mechanism
  • Cyclophosphamide · marker/mechanism

Pathways: Signaling pathways regulating pluripotency of stem cells

MyDisease.info · MONDO:0016576

Literature

Is anyone studying this?

4,100

4,100 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=3967) is 59.

4,100 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).

2,175 in the last 10 years · medium confidence · 90.7th percentile (publications denominator)

Phrase hits: 3,269 · MeSH hits: 0

Open Europe PMC search

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.

  1. 01
    Spielmann M7 papers · 2025

    Institute for Medical Genetics and Human Genetics, Charité Universitätsmedizin Berlin, Augustenburger Platz 1, Berlin, 13353, Germany

    Papers in Europe PMC
  2. 02
    Zhang 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
  3. 03
    Mundlos S6 papers · 2023

    Institute for Medical Genetics and Human Genetics, Charité Universitätsmedizin Berlin, Augustenburger Platz 1, Berlin, 13353, Germany

    Papers in Europe PMC
  4. 04
    Ahmad W5 papers · 2024

    Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan.

    Papers in Europe PMC
  5. 05
    Jamsheer A5 papers · 2025

    Department of Medical Genetics, University of Medical Sciences, Poznan, Poland.

    Papers in Europe PMC
  6. 06
    Li 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
  7. 07
    Wang Y5 papers · 2026

    Department of Endocrinology, Diabetology, and Metabolism, Lausanne University Hospital, Lausanne, Switzerland.

    Papers in Europe PMC
  8. 08
    Artinger KB4 papers · 2024

    Department of Craniofacial Biology, University of Colorado Denver Anschutz Medical Campus, Aurora, CO 80045, USA.

    Papers in Europe PMC
  9. 09
    Escande F4 papers · 2020

    Institut de Biochimie et Génétique Moléculaire, CHU Lille, Lille, France.

    Papers in Europe PMC
  10. 10
    Lencer 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 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 2026-07-29

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 Isolated split hand-split foot malformation — 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.

("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 "DYNC1I1 syndrome" OR "DYNC1I1-related" OR "MAP3K20" OR "MAP3K20 syndrome" OR "MAP3K20-related")

Run this search on Europe PMC

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"

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

Query health: ok — strategies attempted: phrase; 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