ORPHA:1307
Distal limb deficiencies-micrognathia syndrome
Also known as: 10q24 microduplication syndrome · Buttiens-Fryns syndrome
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
307
77.2th percentile
Trials
0
Interventional, condition-specific
Researchers
1,434
Distinct authors in sample
Gene link
FBXW4
Limited
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
The distal limb deficiencies-micrognathia syndrome is characterized by the combination of symmetric severe distal limb reduction deficiencies affecting all four limbs (oligodactyly), microretrognathia, and microstomia with or without cleft palate.
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:0009525
- MeSH:C565437
- OMIM:246560
- UMLS:C1838652
- NCIT:C75121
Additional Mondo synonyms (6)
SHFM3 · chromosome 10q24 duplication syndrome · split hand-foot malformation 3 · split hand-foot malformation type 3 · split-hand/foot malformation 3, gene duplication syndrome · split-hand/foot malformation type 3
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 — FBXW4
- LiteraturePresent
307 matched papers (182 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 FBXW4.
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?
307
307 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.
307 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).
182 in the last 10 years · medium confidence · 77.2th percentile (publications denominator)
Phrase hits: 307 · MeSH hits: 0
Who's working on it?
1,434
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.
- 01Zhang X10 papers · 2025
Department of Colorectal Surgery, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan, China (mainland).
Papers in Europe PMC - 02Wang Y9 papers · 2025
Department of Surgery of Spine and Spinal Cord, Henan Provincial People's Hospital, Henan International Joint Laboratory of Intelligentized Orthopedics Innovation and Transformation, Henan Key Laboratory for Intelligent Precision Orthopedics, People's Hospital of Zhengzhou University, People's Hospital of Henan University, Zhengzhou, China.
Papers in Europe PMC - 03Jamsheer A7 papers · 2025
Department of Medical Genetics, Poznan University of Medical Sciences, Poznan, Poland. jamsheer@wp.pl.
Papers in Europe PMC - 04Liu J7 papers · 2026
Department of Radiology, The Second Xiangya Hospital, Central South University, Changsha, 410011, Hunan, China. junliu123@csu.edu.cn.
Papers in Europe PMC - 05Liu Z6 papers · 2022
Department of Surgery of Spine and Spinal Cord, Henan Provincial People's Hospital, Henan International Joint Laboratory of Intelligentized Orthopedics Innovation and Transformation, Henan Key Laboratory for Intelligent Precision Orthopedics, People's Hospital of Zhengzhou University, People's Hospital of Henan University, Zhengzhou, China.
Papers in Europe PMC - 06Li Y5 papers · 2024
Farm Animal Genetic Resources Exploration and Innovation Key Laboratory of Sichuan Province, Sichuan Agricultural University, Chengdu 611130, China.
Papers in Europe PMC - 07Mundlos S5 papers · 2023
Institute of Medical Genetics and Human Genetics, Charité-Universitätsmedizin Berlin, Corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Berlin, Germany. stefan.mundlos@charite.de.
Papers in Europe PMC - 08Schwartz CE5 papers · 2011Papers in Europe PMC
- 09Sowińska-Seidler A5 papers · 2025
Department of Medical Genetics, Poznan University of Medical Sciences, Poznan, Poland.
Papers in Europe PMC - 10Spielmann M5 papers · 2023
Max Planck Institute for Molecular Genetics, RG Development and Disease, Berlin, Germany. malte.spielmann@uksh.de.
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.
"Distal limb deficiencies-micrognathia syndrome" OR "10q24 microduplication syndrome" OR "Buttiens-Fryns syndrome" OR "SHFM3" OR "chromosome 10q24 duplication syndrome" OR "split hand-foot malformation 3" OR "split hand-foot malformation type 3" OR "split-hand/foot malformation 3, gene duplication syndrome" OR "split-hand/foot malformation type 3"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Distal limb deficiencies-micrognathia syndrome" OR "10q24 microduplication syndrome" OR "Buttiens-Fryns syndrome" OR "SHFM3" OR "chromosome 10q24 duplication syndrome" OR "split hand-foot malformation 3" OR "split hand-foot malformation type 3" OR "split-hand/foot malformation 3, gene duplication syndrome" OR "split-hand/foot malformation type 3" OR "FBXW4"
Recall-expansion terms: FBXW4
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
- Publication count (307) is high for prevalence class "<1 / 1 000 000" — confidence capped at medium
Ingested 2026-07-26T16:59:23.504Z