Catalog

Encephalocraniocutaneous lipomatosis

No MMS code

Link to WHO Definition

Encephalocraniocutaneous lipomatosis – http://id.who.int/icd/entity/1084215843

Encephalocraniocutaneous lipomatosis is a rare sporadic neurocutaneous syndrome involving tissues of ectodermal and mesodermal origin and characterised by profound mental retardation, early onset of seizures, unilateral temporofrontal lipomatosis, ipsilateral cerebral and leptomeningeal lipomatosis, cerebral malformation and calcification, and lipomas of the skull, eye, and heart.