Goldenhar syndrome

Summary
Synonym
  • Facio-auriculo-vertebral spectrum
  • First AND second branchial arch syndrome
  • First arch syndrome
  • HEMIFACIAL MICROSOMIA
  • OAV (oculoauriculovertebral) dysplasia
  • Otomandibular dysostosis
Definition
A syndrome that is characterized by incomplete development of the ear, nose, soft palate, lip, and mandible. It is associated with anomalous development of the first branchial arch and second branchial arch.
Super Class
syndrome
Disease Ontology
DOID:2907
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
ORDO
GARD
MGI genotype (from TogoID)
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
10992 SF3B2 splicing factor 3b subunit 2
Displaying 1 entry
Gene ID Gene Symbol Description Source
22773 Zic3 zinc finger protein of the cerebellum 3
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
Q13435 Splicing factor 3B subunit 2
Displaying 1 entry
UniProt ID Protein Name Source
Q62521 Zinc finger protein ZIC 3

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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: April 7, 2025