Ivemark syndrome

Also known as: Asplenia syndrome

Asplenia with right isomerism and complex heart disease.

Medical specialty: Cardiology
Subspecialty: Cardiology / Congenital heart disease
Sex & age distribution: Male: affected, more common; Female: affected; Children: yes, neonatal
Gene(s) involved: ACVR2B, CFC1, NODAL, ZIC3

Etiology & mechanism

Laterality gene defects.

Gene(s) involved (4)

ACVR2BCFC1NODALZIC3

Symptoms & signs (6)

aspleniacomplex heart diseasecyanosishowell–jolly bodiesinfectionsintestinal malrotation

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