encephalocraniocutaneous lipomatosis
ICD-10: E88.2MeSH: C535736ORPHA: 2396
Overview
rare neoplastic syndrome characterized by the presence of unilateral lipomas of the cranium, face and neck, and ipsilateral cerebral malformations
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with encephalocraniocutaneous lipomatosis, sourced from HPO and Orphanet clinical annotations.
HypertoniaAbsent septum pellucidumTricuspid valve prolapseCerebral atrophyRigidityPulmonary arterial hypertensionVentriculomegalyCerebral cortical atrophyAbnormal speech patternMutismAphasiaCerebral calcificationOsteolysisMuscle stiffnessCraniofacial hyperostosisCapillary hemangiomaCorneal opacityEcholaliaNeoplasm of the skeletal systemBone cystSubcortical cerebral atrophyVisceral angiomatosisDysostosis multiplexHemiparesisAortic valve stenosisAbnormal aortic morphologyCoarctation of aortaHemiplegiaTetraplegiaSkeletal dysplasiaAbnormal cartilage morphologyRetinopathyXanthomatosisMultiple lipomasIntellectual disabilitySeizureGlobal developmental delaySubcutaneous noduleAlopeciaLipodystrophyNeurodevelopmental abnormalityMacrocephalyAbnormality of the faceAbnormal eyelid morphologyAbnormal eyelash morphologyIris colobomaAbnormal nasolacrimal system morphologyAtypical behaviorAbnormal skull morphologyNevus flammeusSpasticityAgenesis of corpus callosumParalysisInterrupted aortic archOsteochondrosisNevus psiloliparus
Classification & Codes
ICD-10 Code
E88.2MeSH Code
C535736Orphanet Code
ORPHA:2396encephalocraniocutaneous lipomatosis
| ICD-10 | E88.2 |
| MeSH | C535736 |
| Orphanet | ORPHA:2396 |
| Treatments | 0 drug(s) |
| Symptoms on record | 56 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO