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
External Links
Disease Ontology
DOID:2907
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
ORDO
OMIM
GARD
MGI genotype (from TogoID)
Related Genes
Displaying entries 11 - 13 of 13 in total
Gene ID Gene Symbol Description Source
9993 DGCR2 DiGeorge syndrome critical region gene 2
113026 PLCD3 phospholipase C delta 3
158326 FREM1 FRAS1 related extracellular matrix 1

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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: August 19, 2024