Legius syndrome
ICD-10: Q85MeSH: C548032ORPHA: 137605
Overview
rare genetic skin pigmentation disorder characterized by multiple cafe-au-lait macules
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 Legius syndrome, sourced from HPO and Orphanet clinical annotations.
Multiple cafe-au-lait spotsAtypical behaviorAxillary frecklingSpecific learning disabilityInguinal frecklingMacrocephalyShort attention spanHyperactivityAbnormal sternum morphologyMultiple lipomasShort statureHearing impairmentCataractDelayed speech and language developmentNephrolithiasisXanthelasmaSeizureHypotoniaMotor delayDystoniaMitral valve prolapsePulmonic stenosisScoliosisNephroblastomaClinodactyly of the 5th fingerAcute monocytic leukemiaParoxysmal atrial tachycardiaAttention deficit hyperactivity disorderChiari type I malformationVestibular schwannomaPolydactylyNon-small cell lung carcinomaMale urethral meatus stenosisGastrointestinal desmoid tumorCognitive impairmentOvarian neoplasmBrain imaging abnormality
Classification & Codes
ICD-10 Code
Q85MeSH Code
C548032Orphanet Code
ORPHA:137605Legius syndrome
| ICD-10 | Q85 |
| MeSH | C548032 |
| Orphanet | ORPHA:137605 |
| Treatments | 0 drug(s) |
| Symptoms on record | 37 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO