Coats plus syndrome
Coats plus syndrome
Definition
Coats plus syndrome is a pleiotropic multisystem disorder characterized by retinal telangiectasia and exudates, intracranial calcification with leukoencephalopathy and brain cysts, osteopenia with predisposition to fractures, bone marrow suppression, gastrointestinal bleeding and portal hypertension. It is transmitted as an autosomal recessive disease.
Also known as cerebroretinal microangiopathy with calcfications and cysts, cerebroretinal microangiopathy with calcifications and cysts, CRMCC — per MONDO