MEND syndrome
ORPHA: 401973
Overview
human disease
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 MEND syndrome, sourced from HPO and Orphanet clinical annotations.
Elevated 8-dehydrocholesterolElevated 8(9)-cholestenolCryptorchidismHigh palateHydrocephalusWide anterior fontanelHypertelorismMicrognathiaLow-set earsAbnormal nasal bridge morphologyProminent nasal bridgeLong neckThickened nuchal skin foldTelecanthusCataractMicrophthalmiaUpslanted palpebral fissureSacral dimpleHand polydactylyIntellectual disabilitySeizureGlobal developmental delayGeneralized hypotoniaDandy-Walker malformationFailure to thriveAortic valve stenosisOverlapping toeHypoplasia of the corpus callosumLimb hypertoniaKyphosisShort stature2-3 toe syndactylySpotty hypopigmentationAbnormal auditory evoked potentialsIchthyosisAsymmetry of the mouthBroad halluxOverlapping fingersMidface retrusionAbnormal social behaviorLong fingersCleft palateAggressive behaviorHyperactivityAbnormal heart morphology
Classification & Codes
Orphanet Code
ORPHA:401973MEND syndrome
| Orphanet | ORPHA:401973 |
| Treatments | 0 drug(s) |
| Symptoms on record | 45 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO