Home » Classic Medicine » Syndromes » heterotaxy—visceral—1—X-linked



An X-linked form (OMIM:306955) of visceral heterotaxy–a complex malformation syndrome caused by disruption of the normal left-right asymmetry of the thoracic and abdominal organs, resulting in an abnormal arrangement of visceral organs, and an array of congenital defects.

Clinical findings Dextrocardia, corrected transposition of great arteries, ventricular septal defect, patent ductus arteriosus, pulmonary stenosis, situs inversus, and asplenia or polysplenia. 

Molecular pathology Defects of ZIC3, which encodes a zinc finger protein that acts as transcriptional activator and is required in the earliest stages in both axial midline development and left-right asymmetry specification, cause heterotaxy—visceral—1—X-linked.

Synonyms CHTD1 (included), congenital heart defects—multiple types (included), dextrocardia with other cardiac malformations, familial situs ambiguus, laterality—X-linked, situs inversus—complex cardiac defects—and splenic defects—X-linked, X-linked laterality sequence, X-linked visceral heterotaxy

References http://www.uniprot.org/uniprot/O60481


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