Heterotaxy syndrome

Also known as: isomerism; Ivemark syndrome (asplenia); polysplenia syndrome; Situs ambiguus

Abnormal left-right organ arrangement with complex congenital heart disease.

Medical specialty: Cardiology
Subspecialty: Cardiology / Congenital heart disease
Sex & age distribution: Male: affected, X-linked ZIC3 form male; Female: affected; Children: yes, neonates
Gene(s) involved: ACVR2B, CCDC11, CFC1, GDF1, LEFTY2, MMP21, NKX2-5, NODAL, PKD1L1, ZIC3

Etiology & mechanism

Disrupted left-right axis determination and ciliary function.

Gene(s) involved (10)

ACVR2BCCDC11CFC1GDF1LEFTY2MMP21NKX2-5NODALPKD1L1ZIC3

Symptoms & signs (8)

aspleniabiliary atresiacomplex congenital heart diseasecyanosishowell–jolly bodiesintestinal malrotationpoor feedingrecurrent infections

SyndromeScope — educational reference. Content is model-generated and not clinically verified; always confirm against OMIM, Orphanet and GeneReviews before clinical use.