Renal coloboma syndrome
Renal coloboma syndrome
Definition
Renal coloboma syndrome (RCS) is a genetic condition characterized by optic nerve dysplasia and renal hypodysplasia.
Also known as CAKUT with or without ocular abnormalities, coloboma of optic nerve with renal disease, congenital anomalies of the kidney and urinary tract with or without ocular abnormalities, Papillo-renal syndrome, papillorenal syndrome, renal-coloboma syndrome with macular abnormalities — per MONDO