agnathia-otocephaly complex

Term ID

DOID:0060341

Synonyms

• 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. https://www.ncbi.nlm.nih.gov/pubmed/17438667

References

• ICD10CM:Q18.2
• MESH:C562503
• OMIM:202650
• ORDO:990

Ontology

Human Disease   ( DOID:0060341 )