ORPHA:488232
Split-foot malformation-mesoaxial polydactyly syndrome
Also known as: SFMMP · Split-foot malformation-mesoaxial polydactyly-nail abnormalities-sensorineural hearing loss syndrome
Publications
366
77.8th percentile
Trials
0
Interventional, condition-specific
Researchers
197
Distinct authors in sample
Gene link
MAP3K20
Limited
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
A rare genetic syndrome with limb malformations as a major feature characterized by unilateral or bilateral split-foot , nail abnormalities of the hand, and bilateral sensorineural hearing impairment. Mesoaxial polydactyly of the foot has also been described.
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:0014816
- OMIM:616890
- UMLS:C5567487
Additional Mondo synonyms (2)
split-foot malformation with mesoaxial polydactyly · split-foot malformation-mesoaxial polydactyly-nail abnormalities-sensorineural hearing loss syndrome
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
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
Limited — MAP3K20
- LiteraturePresent
366 matched papers (333 in last 10 years) Source
- Phenotype characterisedPresent
19 HPO annotations (e.g. Split foot; Bilateral sensorineural hearing impairment; Abnormal nail morphology) Source
- Animal modelNot found
No Alliance genotype “model of” associations via Monarch for these Mondo IDs
- Orphan designationNot found
No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source
- 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?
Possibly — only limited evidence so far for MAP3K20.
GenCC classification: Limited.
Phenotypes (Monarch / HPO)
19
Associated phenotypes · MONDO:0014816
- Split foot
- Bilateral sensorineural hearing impairment
- Abnormal nail morphology
- Aplasia/Hypoplasia of the distal phalanx of the 2nd toe
- 1-2 toe syndactyly
Showing 5 of 19 — open Monarch for the full list.
Animal models (Monarch / Alliance)
None returned for this Mondo ID. Empty here is not proof that no model organism work exists under another name or gene.
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)
No CTD chemical associations returned for this Mondo ID.
Literature
Is anyone studying this?
366
366 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=3967) is 59.
366 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).
333 in the last 10 years · medium confidence · 77.8th percentile (publications denominator)
Phrase hits: 19 · MeSH hits: 0
Who's working on it?
197
Distinct author names in 19 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.
- 01Altmüller J2 papers · 2023
Cologne Center for Genomics, University of Cologne, 50931 Cologne, Germany;
Papers in Europe PMC - 02Mundlos S2 papers · 2023
Institut für medizinische Genetik und Humangenetik, Charité - Universitätsmedizin Berlin, Berlin, Germany.
Papers in Europe PMC - 03Nürnberg G2 papers · 2023
Cologne Center for Genomics, University of Cologne, 50931 Cologne, Germany;
Papers in Europe PMC - 04Nürnberg P2 papers · 2023
Cologne Center for Genomics, University of Cologne, 50931 Cologne, Germany; Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD), University of Cologne, 50931 Cologne, Germany; Center for Molecular Medicine Cologne, University of Cologne, 50931 Cologne, Germany;
Papers in Europe PMC - 05Park J2 papers · 2021
Department of Biological Sciences, Ulsan National Institute of Science and Technology, Ulsan 44919, Korea.
Papers in Europe PMC - 06Spielmann M2 papers · 2023
Max Planck Institute for Molecular Genetics, 14195 Berlin, Germany; Institute for Medical Genetics and Human Genetics, Charité Universitätsmedizin Berlin, 13353 Berlin, Germany; Berlin-Brandenburg School for Regenerative Therapies (BSRT), 13353 Berlin, Germany;
Papers in Europe PMC - 07Thiele H2 papers · 2023
Cologne Center for Genomics, University of Cologne, 50931 Cologne, Germany;
Papers in Europe PMC - 08van Bokhoven H2 papers · 2023
Department of Human Genetics, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands;
Papers in Europe PMC - 09Abdelmoneim Elnagheeb M1 paper · 2025
Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.
Papers in Europe PMC - 10Aberdam D1 paper · 2023
INSERM U1138, Centre des Cordeliers, 75270 Paris, France.
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 2026-07-30
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 Split-foot malformation-mesoaxial polydactyly syndrome — check Associations / patient organisations on that page.
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.
("Split-foot malformation-mesoaxial polydactyly syndrome" OR "SFMMP" OR "Split-foot malformation-mesoaxial polydactyly-nail abnormalities-sensorineural hearing loss syndrome" OR "split-foot malformation with mesoaxial polydactyly") OR ("MAP3K20" OR "MAP3K20 syndrome" OR "MAP3K20-related")ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Split-foot malformation-mesoaxial polydactyly syndrome" OR "SFMMP" OR "Split-foot malformation-mesoaxial polydactyly-nail abnormalities-sensorineural hearing loss syndrome" OR "split-foot malformation with mesoaxial polydactyly"
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
Confidence reasoning
- Preferred label is multi-word and distinctive
- No synonyms dropped by stoplist
- No label/synonym collisions with other diseases in this corpus
- Publication count (366) is high for prevalence class "<1 / 1 000 000" — confidence capped at medium
Ingested 2026-07-27T17:22:42.714Z