agnathia-otocephaly complex

Summary
Synonym
  • agnathia-holoprosencephaly-situs inversus syndrome
  • dysgnathia complex agnathia-holoprosencephaly
  • holoprosencephaly-agnathia
  • otocephaly
Definition
A physical disorder characterized by mandibular hypoplasia or agnathia, ventromedial auricular malposition (melotia) and/or auricular fusion (synotia), and microstomia with oroglossal hypoplasia or aglossia. Holoprosencephaly is the most commonly identified association, but skeletal, genitourinary and cardiovascular anomalies and situs inversus have been reported.
Super Class
physical disorder
Disease Ontology
DOID:0060341
Mondo Disease Ontology
MeSH
ORDO
OMIM
MGI genotype (from TogoID)
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
8928 FOXH1 forkhead box H1
Displaying all 2 entries
Gene ID Gene Symbol Description Source
18933 Prrx1 paired related homeobox 1
216131 Trappc10 trafficking protein particle complex 10

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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