McKusick–Kaufman syndrome

McKusick-Kaufman syndrome is a very rare, genetic developmental disorder presenting in the neonatal period characterized by genitourinary malformations, polydactyly, and more rarely, congenital heart disease or gastrointestinal malformations
MedicalCondition developmental_defect_during_embryogenesis Q3508674
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McKusick–Kaufman syndrome

Summary

McKusick–Kaufman syndrome is a developmental defect during embryogenesis[1]. It draws 168 Wikipedia views per month (developmental_defect_during_embryogenesis category, ranking #102 of 308).[2]

Key Facts

  • McKusick–Kaufman syndrome's instance of is recorded as developmental defect during embryogenesis[3].
  • McKusick–Kaufman syndrome's instance of is recorded as rare disease[4].
  • McKusick–Kaufman syndrome's instance of is recorded as class of disease[5].
  • Victor A. McKusick is named after McKusick–Kaufman syndrome[6].
  • McKusick–Kaufman syndrome is a type of rare genetic developmental defect during embryogenesis[7].
  • McKusick–Kaufman syndrome is a type of multiple congenital anomalies/dysmorphic syndrome without intellectual disability[8].
  • McKusick–Kaufman syndrome is a type of autosomal recessive disease[9].
  • McKusick–Kaufman syndrome is a type of syndrome[10].
  • McKusick–Kaufman syndrome is a type of disease[11].
  • McKusick–Kaufman syndrome's ICD-9-CM is recorded as 758.89[12].
  • McKusick–Kaufman syndrome's genetic association is recorded as MKKS[13].
  • McKusick–Kaufman syndrome's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_2473[14].
  • McKusick–Kaufman syndrome's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0111255[15].
  • McKusick–Kaufman syndrome's exact match is recorded as http://identifiers.org/doid/DOID:0111255[16].
  • McKusick–Kaufman syndrome's on focus list of Wikimedia project is recorded as WikiProject Medicine[17].

Why It Matters

McKusick–Kaufman syndrome draws 168 Wikipedia views per month (developmental_defect_during_embryogenesis category, ranking #102 of 308).[2] It has Wikipedia articles in 9 language editions, a strong signal of global cultural recognition.[18] It is known by 17 alternative names across languages and contexts.[19]

References

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

Direct Wikidata claims

  1. [3] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  2. [4] ↑ . wikidata.org.
  3. [5] ↑ . wikidata.org.
  4. [6] ↑ . wikidata.org.
  5. [7] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  6. [8] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  7. [9] ↑ . Disease Ontology. Retrieved . wikidata.org.
  8. [10] ↑ . Disease Ontology. Retrieved . wikidata.org.
  9. [11] ↑ . wikidata.org.
  10. [12] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  11. [13] ↑ . Q905695. Retrieved . wikidata.org.
  12. [14] ↑ . wikidata.org.
  13. [15] ↑ . Disease Ontology. Retrieved . wikidata.org.
  14. [16] ↑ . Identifiers.org. registry.identifiers.org. Provenance: wikidata.org.
  15. [17] ↑ . wikidata.org.

Class ancestry

  1. [1] ↑ . Wikidata. wikidata.org.

Aggregate / graph-position facts

  1. [2] ↑ . Wikimedia Foundation. dumps.wikimedia.org.
  2. [18] ↑ . Wikidata sitelinks. wikidata.org.
  3. [19] ↑ . 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). McKusick–Kaufman syndrome. Retrieved October 7, 2026, from https://4ort.xyz/entity/mckusick-kaufman-syndrome
MLA “McKusick–Kaufman syndrome.” 4ort.xyz Knowledge Graph, 4ort.xyz, 7 Oct. 2026, https://4ort.xyz/entity/mckusick-kaufman-syndrome.
BibTeX @misc{4ortxyz_mckusick-kaufman-syndrome_2026, author = {{4ort.xyz Knowledge Graph}}, title = {{McKusick–Kaufman syndrome}}, year = {2026}, url = {https://4ort.xyz/entity/mckusick-kaufman-syndrome}, note = {Accessed: 2026-10-07}}
LLM prompt According to 4ort.xyz Knowledge Graph (aggregator of Wikidata, Wikipedia, and authoritative open-data sources): McKusick–Kaufman syndrome — https://4ort.xyz/entity/mckusick-kaufman-syndrome (retrieved 2026-10-07)

Canonical URL: https://4ort.xyz/entity/mckusick-kaufman-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. 13w ago · JhealdBatch bot · 2026-07-05 view diff on Wikidata ↗
    Subclass of → rare genetic developmental defect during embryogenesis, multiple congenital anomalies/dysmorphic syndrome without intellectual disability, autosomal recessive disease +2
    Instance of → developmental defect during embryogenesis, rare disease, class of disease
    "/* wbeditentity-update:0| */ QuickStatements 3.0 [[:toollabs:qs-dev/batch/39953|batch #39953]]: deprecate redundant disease superclasses (2)"
  2. 13w ago · JhealdBatch bot · 2026-07-03 view diff on Wikidata ↗
    Named after → —
    Genetic association → MKKS
    Subclass of → —
    Instance of → developmental defect during embryogenesis, rare disease, class of disease
    + 5 other properties edited (see Wikidata diff for full list)
    "/* wbeditentity-update:0| */ QuickStatements 3.0 [[:toollabs:qs-dev/batch/39732|batch #39732]]: rm redundant subclass"
Live feed via Wikidata EventStreams. New edits appear within minutes of being made on Wikidata.