Autosomal dominant familial haematuria - retinal arteriolar tortuosity - contractures (Q106650)

Autosomal dominant familial haematuria - retinal arteriolar tortuosity - contractures syndrome is characterised by the association of haematuria (without proteinuria) with extrarenal manifestations: retinal arterial tortuosities responsible for retinal haemorrhages, cardiac arrhythmia, Raynaud phenomena and congenital muscular contractures.