epidermolysis bullosa simplex with anodontia/hypodontia
ORPHA: 2325
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 epidermolysis bullosa simplex with anodontia/hypodontia, sourced from HPO and Orphanet clinical annotations.
Abnormality of the faceMandibular prognathiaShort philtrumHearing impairmentMyopiaAbnormal dental enamel morphologyDelayed eruption of teethEctopia lentisAbnormal fingernail morphologyAlopeciaHypoplastic toenailsAnemiaSparse scalp hairFatigable weaknessAbnormal blistering of the skinTooth agenesisCognitive impairmentToenail dysplasiaFingernail dysplasia
Classification & Codes
Orphanet Code
ORPHA:2325epidermolysis bullosa simplex with anodontia/hypodontia
| Orphanet | ORPHA:2325 |
| Treatments | 0 drug(s) |
| Symptoms on record | 19 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO