Van den Ende-Gupta syndrome
MeSH: C535909ORPHA: 2460
Overview
Van den Ende-Gupta syndrome is a very rare syndrome characterized by blepharophimosis, arachnodactyly, joint contractures, and characteristic dysmorphic features
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 Van den Ende-Gupta syndrome, sourced from HPO and Orphanet clinical annotations.
Long footDislocated radial head2-3 toe syndactylyDepressed nasal bridgeSlender metacarpalsBowing of the long bonesElbow contractureJoint contractureHydronephrosisNarrow mouthMicrognathiaHearing impairmentUnderdeveloped nasal alaeSclerocorneaDental crowdingDelayed speech and language developmentCraniosynostosisTalipes equinovarusDeviated nasal septumGlenoid fossa hypoplasiaAbnormal aryepiglottic fold morphologyAbnormal columella morphologyClinodactylyKnee contractureEverted lower lip vermilionMalar flatteningBlepharophimosisArachnodactylyCamptodactylyHigh palateFacial asymmetryTriangular faceProtruding earNarrow noseDownslanted palpebral fissuresThin ribsLateral clavicle hookHallux valgus
Classification & Codes
MeSH Code
C535909Orphanet Code
ORPHA:2460Van den Ende-Gupta syndrome
| MeSH | C535909 |
| Orphanet | ORPHA:2460 |
| Treatments | 0 drug(s) |
| Symptoms on record | 38 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO