Agnathia-otocephaly complex
Agnathia-otocephaly complex
Definition
Agnathia-holoprosencephaly-situs inversus syndrome is an extremely rare and fatal association syndrome, characterized by absence of the mandible, cerebral malformations with facial anomalies related to a defect in cleavage in the embryonic brain (e.g. synophthalmia, malformed and low-set ears fused in midline (otocephaly), agenesis of the olfactory bulbs, microstomia, hypoglossia/aglossia) and situs inversus partialis or totalis.
Also known as agnathia-holoprosencephaly-situs inversus syndrome, agnathia-otocephaly complex, dysgnathia complex agnathia-holoprosencephaly, holoprosencephaly-agnathia, otocephaly — per MONDO