Marfan syndrome

genetic disorder of the connective tissue
MedicalCondition designated_intractable_rare_disease Q208562
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Summary

Marfan syndrome is a designated intractable/rare disease[1]. It ranks in the top 5% of designated intractable rare disease entities by monthly Wikipedia readership (22,692 views/month).[2]

Key Facts

  • Instance of: rare disease[3], class of disease[4], symptom or sign[5]
  • Named after: Antoine Marfan[6]
  • Subclass of: marfanoid[7], connective tissue disease[8], eye disease[9]
  • Commons category: Marfan syndrome[10]
  • ICPC 2 ID: A90[11]
  • Afflicts: connective tissue[12]
  • Symptoms and signs: dolichostenomelia[13], flat feet[14], mitral valve prolapse[15], scoliosis[16], pectus excavatum[17], pectus carinatum[18], aortic aneurysm[19], aortic dissection[20], ectopia lentis[21]
  • External data available at URL: http://www.nanbyou.or.jp/entry/4792[22]
  • ICD-9-CM: 759.82[23]
  • NCI Thesaurus ID: C34807[24]
  • Health specialty: medical genetics[25]
  • Genetic association: FBN1[26]
  • Exact match: http://purl.obolibrary.org/obo/DOID_14323[27], http://identifiers.org/doid/DOID:14323[28], http://www.orpha.net/ORDO/Orphanet_558[29]
  • On focus list of Wikimedia project: WikiProject Medicine[30]
  • P14541: 2NbKKl[31]

Why It Matters

Marfan syndrome has Wikipedia articles in 29 language editions, a strong signal of global cultural recognition.[32] It is known by 52 alternative names across languages and contexts.[33]

References

Programmatic citations — every numbered marker resolves to a verifiable graph row below.

Direct Wikidata claims

  1. [3] ↑ . wikidata.org.
  2. [4] ↑ . wikidata.org.
  3. [5] ↑ . wikidata.org.
  4. [6] ↑ . wikidata.org.
  5. [7] ↑ . wikidata.org.
  6. [8] ↑ . Disease Ontology. Retrieved . wikidata.org.
  7. [9] ↑ . Disease Ontology. Retrieved . wikidata.org.
  8. [10] ↑ . wikidata.org.
  9. [11] ↑ . wikidata.org.
  10. [12] ↑ . wikidata.org.
  11. [13] ↑ . marfan.org. Retrieved . marfan.org. Provenance: wikidata.org.
  12. [14] ↑ . marfan.org. Retrieved . marfan.org. Provenance: wikidata.org.
  13. [15] ↑ . my.clevelandclinic.org. Retrieved . my.clevelandclinic.org. Provenance: wikidata.org.
  14. [16] ↑ . nhlbi.nih.gov. Retrieved . nhlbi.nih.gov. Provenance: wikidata.org.
  15. [17] ↑ . nhlbi.nih.gov. Retrieved . nhlbi.nih.gov. Provenance: wikidata.org.
  16. [18] ↑ . nhlbi.nih.gov. Retrieved . nhlbi.nih.gov. Provenance: wikidata.org.
  17. [19] ↑ . nhlbi.nih.gov. Retrieved . nhlbi.nih.gov. Provenance: wikidata.org.
  18. [20] ↑ . nhlbi.nih.gov. Retrieved . nhlbi.nih.gov. Provenance: wikidata.org.
  19. [21] ↑ . omim.org. Retrieved . omim.org. Provenance: wikidata.org.
  20. [22] ↑ . ddrare.nibiohn.go.jp. Retrieved . ddrare.nibiohn.go.jp. Provenance: wikidata.org.
  21. [23] ↑ . Disease Ontology. Retrieved . wikidata.org.
  22. [24] ↑ . Disease Ontology. Retrieved . wikidata.org.
  23. [25] ↑ . wikidata.org.
  24. [26] ↑ . Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene. wikidata.org.
  25. [27] ↑ . Disease Ontology. Retrieved . wikidata.org.
  26. [28] ↑ . Identifiers.org. ebi.ac.uk. Provenance: wikidata.org.
  27. [29] ↑ . wikidata.org.
  28. [30] ↑ . wikidata.org.
  29. [31] ↑ . wikidata.org.

Class ancestry

  1. [1] ↑ . Wikidata. wikidata.org.

Aggregate / graph-position facts

  1. [2] ↑ . Wikimedia Foundation. dumps.wikimedia.org.
  2. [32] ↑ . Wikidata sitelinks. wikidata.org.
  3. [33] ↑ . Wikidata aliases. wikidata.org.

📑 Cite this page

Use these citations when quoting this entity in research, articles, AI prompts, or wherever provenance matters. We aggregate Wikidata + Wikipedia + authoritative open-data sources; the stitched, scored, cross-referenced view is what 4ort.xyz contributes.

APA 4ort.xyz Knowledge Graph. (2026). Marfan syndrome. Retrieved October 12, 2026, from https://4ort.xyz/entity/marfan-syndrome
MLA “Marfan syndrome.” 4ort.xyz Knowledge Graph, 4ort.xyz, 12 Oct. 2026, https://4ort.xyz/entity/marfan-syndrome.
BibTeX @misc{4ortxyz_marfan-syndrome_2026, author = {{4ort.xyz Knowledge Graph}}, title = {{Marfan syndrome}}, year = {2026}, url = {https://4ort.xyz/entity/marfan-syndrome}, note = {Accessed: 2026-10-12}}
LLM prompt According to 4ort.xyz Knowledge Graph (aggregator of Wikidata, Wikipedia, and authoritative open-data sources): Marfan syndrome — https://4ort.xyz/entity/marfan-syndrome (retrieved 2026-10-12)

Canonical URL: https://4ort.xyz/entity/marfan-syndrome · Last refreshed:

Edit History

Rolling log of changes to this entity's Wikidata record. Values shown reflect the current state of each edited property — follow the history link to see the precise diff for any edit.

  1. 12d ago · Diana.Zapf-Deniz · 2026-10-02 view diff on Wikidata ↗
    Sitelink count → 60
    Wikipedia languages → ['ar', 'az', 'azb', 'bg', 'bn', 'bs', 'ca', 'ckb', 'commons', 'cs', 'da', 'de',
    Image → —
    Claims rich → —
    "/* wbremoveclaims-remove:1| */ Image: Marfan Patient.jpeg"
  2. 13w ago · Nyuhn · 2026-07-10 view diff on Wikidata ↗
    P14541 → 2NbKKl
    "/* wbeditentity-update:0| */ QuickStatements 3.0 [[:toollabs:qs-dev/batch/40849|batch #40849]]: ZGBK ID"
  3. 14w ago · JhealdBatch bot · 2026-07-03 view diff on Wikidata ↗
    Subclass of → marfanoid, connective tissue disease, eye disease
    "/* wbeditentity-update:0| */ QuickStatements 3.0 [[:toollabs:qs-dev/batch/39732|batch #39732]]: rm redundant subclass"
  4. 21w ago · Twofivesixbot bot · 2026-05-18 view diff on Wikidata ↗
    Instance of → —
    Named after → Antoine Marfan
    Health specialty → medical genetics
    Subclass of → —
    + 8 other properties edited (see Wikidata diff for full list)
    "/* wbsetclaim-update-qualifiers:1||1|9 */ Yso id: 15804, mv to monolingual text names on YSO statements"
Live feed via Wikidata EventStreams. New edits appear within minutes of being made on Wikidata.