Walker–Warburg syndrome
MeSH: D058494ORPHA: 8991 Treatment Available
Overview
rare form of autosomal recessive congenital muscular dystrophy
Available Treatments (1)
| Drug | Form | Status | Countries | Lead Time |
|---|---|---|---|---|
| idebenone Orphan | oral tablet, 150 mg | EMA Approved | 9 | 21d |
Clinical Presentation
Signs and symptoms associated with Walker–Warburg syndrome, sourced from HPO and Orphanet clinical annotations.
AreflexiaPachygyriaCerebellar hypoplasiaMuscle weaknessSpecific learning disabilityLissencephalyAplasia/Hypoplasia involving the skeletal musculatureVentriculomegalyPolymicrogyriaAbnormality of neuronal migrationAbnormal cerebellar vermis morphologyAbnormal cortical gyrationSkeletal muscle atrophyMuscular dystrophyChorioretinal dysplasiaRetinal dysplasiaMetatarsus valgusAbnormal circulating aldolase concentrationAbnormal circulating creatine kinase concentrationAbnormal circulating lactate dehydrogenase concentrationCryptorchidismMacrocephalyGlaucomaAnophthalmiaMicrophthalmiaAgenesis of corpus callosumDandy-Walker malformationAbsent septum pellucidumCorneal opacityHypoplasia of penisCleft palateSubmucous cleft hard palateBifid uvulaMicrocephalyPosteriorly rotated earsLow-set earsProtruding earMicrocorneaCataractIris colobomaSeizureHydrocephalusRetinal detachmentRetinal dystrophyAbnormal optic nerve morphologyOptic atrophyIntellectual disabilityHypotoniaGlobal developmental delayHyporeflexia
Classification & Codes
MeSH Code
D058494Orphanet Code
ORPHA:899Walker–Warburg syndrome
| MeSH | D058494 |
| Orphanet | ORPHA:899 |
| Treatments | 1 drug(s) |
| Symptoms on record | 50 signs |
| Status | published |
Treatment Summary
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO