Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
Definition
A syndrome characterized by the association of hematuria (without proteinuria) with extrarenal manifestations: retinal arterial tortuosities responsible for retinal hemorrhages, cardiac arrhythmia, Raynaud phenomena and congenital muscular contractures.
Also known as angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps, HANAC, HANAC syndrome, hereditary angiopathy-nephropathy-aneurysms-muscle cramps syndrome — per MONDO