ORPHA:488232
Split-foot malformation-mesoaxial polydactyly syndrome
Also known as: SFMMP · Split-foot malformation-mesoaxial polydactyly-nail abnormalities-sensorineural hearing loss syndrome
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
19
34.8th percentile
Trials
0
Interventional, condition-specific
Researchers
197
Distinct authors in sample
Gene link
MAP3K20
Limited
Readiness
2/6
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.”
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
Limited — MAP3K20
- LiteraturePresent
19 matched papers (17 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?
Possibly — only limited evidence so far for MAP3K20.
GenCC classification: Limited.
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?
19
19 papers have ever been indexed 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.
19 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).
17 in the last 10 years · high confidence · 34.8th 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 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.
"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"
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" OR "MAP3K20"
Recall-expansion terms: 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
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 2026-07-27T17:22:42.714Z