Visceral Heterotaxy
Abnormal left-right arrangement of the internal organs, caused by changes in genes such as ZIC3 (X-linked), NODAL, CFC1, MMP21 and PKD1L1, often with complex heart defects and spleen abnormalities.
Co se diagnózou změní
Knowing about it supports heart and abdominal imaging, infection precautions if the spleen is absent, and reproductive counselling.
Známé také jako
heterotaxia; heterotaxia syndrome; heterotaxy syndrome; incomplete situs inversus; lateralization defect; partial situs inversus; situs ambiguous; situs ambiguus
Zahrnuje 20 příbuzných podtypů ↓Skrýt podtypy ↑
- dextrocardia
- heterotaxy, visceral, 1, X-linked
- heterotaxy, visceral, 10, autosomal, with male infertility
- heterotaxy, visceral, 11, autosomal, with male infertility
- heterotaxy, visceral, 12, autosomal
- heterotaxy, visceral, 13, autosomal
- heterotaxy, visceral, 14, autosomal
- heterotaxy, visceral, 2, autosomal
- heterotaxy, visceral, 3, autosomal
- heterotaxy, visceral, 4, autosomal
- heterotaxy, visceral, 5, autosomal
- heterotaxy, visceral, 6, autosomal
- heterotaxy, visceral, 7, autosomal
- heterotaxy, visceral, 8, autosomal
- heterotaxy, visceral, 9, autosomal, with male infertility
- laterality defects, autosomal dominant
- levocardia
- right atrial isomerism
- situs inversus
- situs inversus totalis with cystic dysplasia of kidneys and pancreas
