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Robinow syndrome

syndrome characterized by mild to moderate short stature due to growth delays after birth, distinctive craniofacial abnormalities, skeletal malformations and genital abnormalities
Class type of: syndrome, autosomal genetic disease Q1475743

Facts

11 properties
Instance of
rare disease, class of disease[6]
Subclass of
syndrome, autosomal genetic disease
Age of onset
infantile onset, neonatal onset[17][18]
Described by source
A Newly Recognized Dwarfing Syndrome[8]
Discoverer or inventor
Meinhard Robinow, Frederic N. Silverman[4][5]
Genetic association
ROR2, DVL1, DVL3, FZD2, WNT5A, NXN[11][12][13][14][15][16]
Health specialty
medical genetics[10]
NCI Thesaurus ID
C85048[9]
Named after
Meinhard Robinow[7]
On focus list of Wikimedia project
WikiProject Medicine[19]
P14914
D97360[20]
🏷️ Also known as
en Robinow syndrome en Robinow dwarfism en fetal face syndrome ar متلازمة روبينوف de Robinow-Zwergwuchs de Robinow-Syndrom de Robinow-Silverman-Smith-Syndrom de Fetal face syndrome es sindrome de robinow fr syndrome de Robinow pl Zespół Robinowa ru Синдром Робинова tr Robinow sendromu
🔖 Identifiers · 13
Image (Wikimedia Commons)
Robinow syndrome.jpg ↗
Disease Ontology ID
DOID:0060254
Exact match
purl.obolibrary.org, identifiers.org, www.orpha.net
Freebase ID
/m/0d877v
GARD rare disease ID
312
Genetics Home Reference Conditions ID
robinow-syndrome
ICD-9 ID
759.8
KEGG ID
H00485
MeSH descriptor ID
C562492
Microsoft Academic ID (discontinued)
2778451638
OMIM ID
180700
Orphanet ID
97360
Show all 13 identifiers +1
UMLS CUI
C0265205

Report an error or request removal Lineage (PROV-JSON)

🔗 Connections
Health specialty 1
medical genetics
Instance of 1
rare disease
On focus list of Wikimedia project 1
WikiProject Medicine
Subclass of 1
syndrome
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Summary

Robinow syndrome is a rare disease[1]. It is a type of syndrome[2] and autosomal genetic disease[3].

References

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

Direct Wikidata claims

  1. [6] ↑ . wikidata.org.
  2. [4] ↑ . wikidata.org.
  3. [5] ↑ . wikidata.org.
  4. [7] ↑ . wikidata.org.
  5. [2] ↑ . Disease Ontology. Retrieved . wikidata.org.
  6. [3] ↑ . Disease Ontology. Retrieved . wikidata.org.
  7. [8] ↑ . wikidata.org.
  8. [9] ↑ . Disease Ontology. Retrieved . wikidata.org.
  9. [10] ↑ . wikidata.org.
  10. [11] ↑ . Recessive Robinow syndrome, allelic to dominant brachydactyly type B, is caused by mutation of ROR2.. wikidata.org.
  11. [12] ↑ . 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] ↑ . wikidata.org.
  19. [20] ↑ . wikidata.org.

Class ancestry

  1. [1] ↑ . Wikidata. wikidata.org.

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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). Robinow syndrome. Retrieved November 2, 2026, from https://4ort.xyz/entity/robinow-syndrome
MLA “Robinow syndrome.” 4ort.xyz Knowledge Graph, 4ort.xyz, 2 Nov. 2026, https://4ort.xyz/entity/robinow-syndrome.
BibTeX @misc{4ortxyz_robinow-syndrome_2026, author = {{4ort.xyz Knowledge Graph}}, title = {{Robinow syndrome}}, year = {2026}, url = {https://4ort.xyz/entity/robinow-syndrome}, note = {Accessed: 2026-11-02}}
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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. 12d ago · ACorrêa (WMB) · 2026-10-24 view diff on Wikidata ↗
    Instance of → rare disease, class of disease
    Discoverer or inventor → Meinhard Robinow, Frederic N. Silverman
    Health specialty → medical genetics
    Named after → —
    + 11 other properties edited (see Wikidata diff for full list)
    "/* wbeditentity-update-languages-and-other-short:0||pt, pt-br */ QuickStatements 3.0 [[:toollabs:qs-dev/batch/61469|batch #61469]]: Raras.org data import"
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