Papillorenal syndrome

Renal coloboma syndrome


Type of disease: Rare conditions

Renal coloboma syndrome is a rare condition that affects kidney and eye development. It is characterized by small underdeveloped kidneys, malformation of the optic nerve, and sometimes a hole (coloboma) in the retina. People with renal coloboma syndrome may progress to end stage kidney disease and some people experience vision loss. Less common symptoms include vesicoureteral reflux, multiple kidney cysts, loose joints, and mild hearing loss.  The syndrome has an autosomal dominant pattern of inheritance and can be caused by mutations in the PAX2 gene. In about half of cases, the underlying cause can not be determined. Source: Genetic and Rare Diseases Information Center (GARD), supported by ORDR-NCATS and NHGRI.

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