Robinow syndrome

Summary
Synonym
  • Robinow dwarfism
  • acral dysostosis with facial and genital abnormalities
  • fetal face syndrome
Definition
A syndrome characterized by mild to moderate short stature due to growth delays after birth, distinctive craniofacial abnormalities, skeletal malformations and genital abnormalities.
Super Class
autosomal genetic disease syndrome
Disease Ontology
DOID:0060254
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
ORDO
OMIM
GARD
MGI genotype (from TogoID)
WikiPathways (from TogoID)
Related Genes
Displaying all 2 entries
Gene ID Gene Symbol Description Source
7474 WNT5A Wnt family member 5A
161582 DNAAF4 dynein axonemal assembly factor 4
Displaying 1 entry
Gene ID Gene Symbol Description Source
22418 Wnt5a wingless-type MMTV integration site family, member 5A
Displaying 1 entry
Gene ID Gene Symbol Description Source
32838 Wnt5 Wnt oncogene analog 5
Displaying 1 entry
Gene ID Gene Symbol Description Source
177870 cwn-2 Protein Wnt-2

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: December 9, 2024