Conditions

VACTERL Association Congenital pattern of anomalies affecting vertebrae, kidneys, heart. Townes–Brocks Syndrome Congenital anomalies including ear, anal, and kidney malformations. Fraser Syndrome Autosomal recessive disorder with renal agenesis and cryptophthalmos. Polycystic Kidney Disease (PKD) Inherited disorder with fluid-filled cysts in kidneys. Joubert Syndrome Ciliopathy with cerebellar malformation and renal cysts. Bardet–Biedl Syndrome Ciliopathy causing obesity, polydactyly, and renal cysts. Lowe Syndrome (Oculocerebrorenal Syndrome) Defective phosphatidylinositol metabolism affects kidneys, eyes, brain. Dent’s Disease X-linked disorder causing proteinuria and kidney stones. Cystinuria Defective transport causes cystine stones. Primary Hyperoxaluria Overproduction of oxalate leads to stones and failure.