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Potocki–Shaffer syndrome

human disease
Class type of: multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome, partial deletion of the short arm of chromosome 11, chromosomal deletion syndrome Q7234989

Facts

8 properties
Instance of
rare disease, class of disease[6]
Subclass of
multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome, partial deletion of the short arm of chromosome 11, chromosomal deletion syndrome, syndrome, developmental defect during embryogenesis[7]
Age of onset
infantile onset, neonatal onset[14][15]
Genetic association
ALX4, EXT2, PHF21A[11][12][13]
Has phenotype
micrognathism, global developmental delay, exostosis, micropenis, disability affecting intellectual abilities, strabismus, pathologic nystagmus, wormian bone, hypothyroidism, arterial hypertension, delayed puberty, anemia, nephroblastoma[16][17][18][19][20][21][22][23][24][25][26][27][28]
ICD-9-CM
758.39[9]
NCI Thesaurus ID
C75456[10]
Prevalence
+0.000001[8]
🏷️ Also known as
en Pss en 11p11.2 deletion en Chromosome 11P11.2 Deletion Syndrome en Defect11 Syndrome en Potocki–Shaffer syndrome en POTOCKI-SHAFFER SYNDROME en Proximal 11P Deletion Syndrome de Potocki-Shaffer-Syndrom fr syndrome de Potocki-Shaffer zh 波多斯基-謝菲爾綜合症
🔖 Identifiers · 16
Disease Ontology ID
DOID:0111687
DiseasesDB
33344
Exact match
www.orpha.net, purl.obolibrary.org, identifiers.org
GARD rare disease ID
9762
Genetics Home Reference Conditions ID
potocki-shaffer-syndrome
ICD-10-CM
Q93.5
MeSH descriptor ID
C538356
Microsoft Academic ID (discontinued)
2779582714
Mondo ID
MONDO_0011022
OMIM ID
601224
Orphanet ID
52022
Raras disease ID
D52022
Show all 16 identifiers +4
SNOMED CT ID
702346005
UMLS CUI
C1832588
UniProt disease ID
DI-02006
WikiProjectMed ID
Potocki–Shaffer syndrome

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Summary

Potocki–Shaffer syndrome is a rare disease[1]. It is a type of multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome[2], partial deletion of the short arm of chromosome 11[3], chromosomal deletion syndrome[4], and syndrome[5].

References

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

Direct Wikidata claims

  1. [6] ↑ . wikidata.org.
  2. [2] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  3. [3] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  4. [4] ↑ . Disease Ontology. Retrieved . wikidata.org.
  5. [5] ↑ . Disease Ontology. Retrieved . wikidata.org.
  6. [7] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  7. [8] ↑ . Retrieved . wikidata.org.
  8. [9] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  9. [10] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  10. [11] ↑ . UniProt. Retrieved . wikidata.org.
  11. [12] ↑ . UniProt. Retrieved . wikidata.org.
  12. [13] ↑ . Retrieved . wikidata.org.
  13. [14] ↑ . Retrieved . wikidata.org.
  14. [15] ↑ . Retrieved . wikidata.org.
  15. [16] ↑ . Retrieved . wikidata.org.
  16. [17] ↑ . Retrieved . wikidata.org.
  17. [18] ↑ . Retrieved . wikidata.org.
  18. [19] ↑ . Retrieved . wikidata.org.
  19. [20] ↑ . Retrieved . wikidata.org.
  20. [21] ↑ . Retrieved . wikidata.org.
  21. [22] ↑ . Retrieved . wikidata.org.
  22. [23] ↑ . Retrieved . wikidata.org.
  23. [24] ↑ . Retrieved . wikidata.org.
  24. [25] ↑ . Retrieved . wikidata.org.
  25. [26] ↑ . Retrieved . wikidata.org.
  26. [27] ↑ . Retrieved . wikidata.org.
  27. [28] ↑ . Retrieved . wikidata.org.

Class ancestry

  1. [1] ↑ . Wikidata. wikidata.org.

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APA 4ort.xyz Knowledge Graph. (2026). Potocki–Shaffer syndrome. Retrieved November 5, 2026, from https://4ort.xyz/entity/potocki-shaffer-syndrome
MLA “Potocki–Shaffer syndrome.” 4ort.xyz Knowledge Graph, 4ort.xyz, 5 Nov. 2026, https://4ort.xyz/entity/potocki-shaffer-syndrome.
BibTeX @misc{4ortxyz_potocki-shaffer-syndrome_2026, author = {{4ort.xyz Knowledge Graph}}, title = {{Potocki–Shaffer syndrome}}, year = {2026}, url = {https://4ort.xyz/entity/potocki-shaffer-syndrome}, note = {Accessed: 2026-11-05}}
LLM prompt According to 4ort.xyz Knowledge Graph (aggregator of Wikidata, Wikipedia, and authoritative open-data sources): Potocki–Shaffer syndrome — https://4ort.xyz/entity/potocki-shaffer-syndrome (retrieved 2026-11-05)

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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. 16d ago · ACorrêa (WMB) · 2026-10-24 view diff on Wikidata ↗
    Genetic association → ALX4, EXT2, PHF21A
    Prevalence → {'amount': '+0.000001'}
    Age of onset → infantile onset, neonatal onset
    Has phenotype → micrognathism, global developmental delay, exostosis +10
    + 1 other property edited (see Wikidata diff for full list)
    "Changed labels, descriptions, aliases and claims: QuickStatements 3.0 batch #61469: Raras.org data import"
  2. 18w ago · JhealdBatch bot · 2026-07-03 view diff on Wikidata ↗
    Mondo ID → MONDO_0011022
    Orphanet ID → 52022
    MeSH descriptor ID → C538356
    OMIM ID → 601224
    + 17 other properties edited (see Wikidata diff for full list)
    "Changed the item: QuickStatements 3.0 batch #39742: subclass of disease, not instance"
Live feed via Wikidata EventStreams. New edits appear within minutes of being made on Wikidata.