Schimmelpenning syndrome
ICD-10: Q85.8MeSH: D054000ORPHA: 3205
Overview
neurocutaneous syndrome with anomalies of the central nervous system, ocular system, skeletal system, cardiovascular system, and genitourinary system. A triad of sebaceous nevi, seizures, and mental retardation
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 Schimmelpenning syndrome, sourced from HPO and Orphanet clinical annotations.
HyperostosisOcular painFacial capillary hemangiomaSeizureCapillary hemangiomaStrabismusGlaucomaOptic atrophyAtypical behaviorDelayed speech and language developmentVisual field defectIntellectual disabilityStrokeHyperreflexiaHeadacheAttention deficit hyperactivity disorderLens luxationArachnoid hemangiomatosisInfantile spasmsNeurodevelopmental delayAbnormal cerebral vascular morphologyGingival overgrowthHydrocephalusMacrocephalyHearing abnormalityAbnormality of visionConjunctival telangiectasiaRetinal detachmentBuphthalmosVisual lossAbnormal choroid morphologyIris colobomaBlindnessDental malocclusionAutistic behaviorHeterochromia iridisCorneal dystrophyDysphagiaCerebral cortical atrophyPulmonary embolismChiari malformationSleep disturbanceCerebral calcificationVenous thrombosisChoroidal hemangiomaAbnormal retinal vascular morphologyEpiphoraCentral hypothyroidismHemianopiaReduced circulating growth hormone concentrationVisceral angiomatosis
Classification & Codes
ICD-10 Code
Q85.8MeSH Code
D054000Orphanet Code
ORPHA:3205Schimmelpenning syndrome
| ICD-10 | Q85.8 |
| MeSH | D054000 |
| Orphanet | ORPHA:3205 |
| Treatments | 0 drug(s) |
| Symptoms on record | 51 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO