Cataract-nephropathy-encephalopathy syndrome

Cataract - nephropathy - encephalopathy syndrome describes a lethal combination of manifestations including short stature, congenital cataracts, encephalopathy with epileptic fits, and postmortem confirmation of nephropathy (renal tubular necrosis). The combination of cataract - nephropathy - encephalopathy has been described in 2 female infant children of first cousin parents. The infants did not survive beyond 4 and 8 months respectively. There have been no further descriptions in the literature since 1963.

Also known as: crome syndrome, congenital cataracts, renal tubular necrosis and encephalopathy in two sisters

0 clinical trials for this condition and its sub-types, 0 tagged with Cataract-nephropathy-encephalopathy syndrome itself.