Preferred Label : Encephalocraniocutaneous lipomatosis;
ICD-11 definition : Encephalocraniocutaneous lipomatosis is a rare sporadic neurocutaneous syndrome involving
tissues of ectodermal and mesodermal origin and characterized 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.;
ICD-11 synonym : Fishman syndrome; Haberland syndrome;
Origin ID : 1084215843;
Automatic exact mappings (from CISMeF team)
Encephalocraniocutaneous lipomatosis is a rare sporadic neurocutaneous syndrome involving
tissues of ectodermal and mesodermal origin and characterized 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.
