Agnathia-otocephaly complex

MONDO:0008740

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, AGOTC, Dysgnathia Complex agnathia-holoprosencephaly, agnathia-holoprosencephaly

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↑ Hereditary disease (18187) ↑ Multiple congenital anomalies/dysmorphic syndrome-intellectual disability (59)

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