junctional epidermolysis bullosa with pyloric atresia
ORPHA: 79403
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 junctional epidermolysis bullosa with pyloric atresia, sourced from HPO and Orphanet clinical annotations.
Nausea and vomitingAbdominal distentionCongenital pyloric atresiaAbnormal blistering of the skinIntestinal atresiaOral mucosal blistersUreteroceleRenal duplicationRenal dysplasiaHydronephrosisHematuriaPolyhydramniosRecurrent skin infectionsEnamel hypoplasiaAplasia of the bladderUrethral strictureUrinary bladder inflammationEctropionAplasia cutis congenitaPterygiumNail dystrophy
Classification & Codes
Orphanet Code
ORPHA:79403junctional epidermolysis bullosa with pyloric atresia
| Orphanet | ORPHA:79403 |
| Treatments | 0 drug(s) |
| Symptoms on record | 21 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO