visceral heterotaxy X-linked type 1

(redirected from familial situs ambiguus)

visceral heterotaxy X-linked type 1

A form (OMIM:306955) of visceral heterotaxy, a complex malformation syndrome caused by disruption of the normal left-right asymmetry of the thoracoabdominal 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 required in the earliest stages in axial midline development and left-right asymmetry specification, cause visceral heterotaxy X-linked type 1.
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