Agnathia-holoprosencephaly-situs inversus syndrome

Definition

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.

Disease data

Classification

Malformation syndrome

ORPHA code

990

OMIM code

202650

ICD10 code

Q87.8

ICD11 code

*Soruce