Agnathia-holoprosencephaly-situs inversus syndrome
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.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version September 2023.
Newly diagnosed with
Agnathia-holoprosencephaly-situs inversus syndrome?
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