Cataract-nephropathy-encephalopathy syndrome

Orpha code: 1380OMIM code: 218900

Definition

A rare lethal combination of manifestations including short stature, congenital cataracts, encephalopathy with epileptic fits, and postmortem confirmation of nephropathy (renal tubular necrosis). There have been no further descriptions in the literature since 1963.

Disease data
Classification

Malformation syndrome

Synonyms
Crome syndrome
Zespół Crome'a
ORPHA code
1380
OMIM code
218900
ICD10 code
Q87.8
ICD11 code
-

No additional description.

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