bullous dystrophy, macular type
MeSH: C563065ORPHA: 1867
Overview
class of 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 bullous dystrophy, macular type, sourced from HPO and Orphanet clinical annotations.
MicrocephalyHyperpigmentation of the skinAcrocyanosisTapered fingerMild intellectual disabilityAlopeciaPneumoniaShort statureSpotty hypopigmentationCorneal opacityAbnormal blistering of the skinNail dystrophyShort fingerCongenital abnormal hair patternCryptorchidismTurricephalyCataractGrowth delayAbnormal heart morphologyExternal genital hypoplasiaDecreased testicular sizeHeart murmurAtrichia
Classification & Codes
MeSH Code
C563065Orphanet Code
ORPHA:1867bullous dystrophy, macular type
| MeSH | C563065 |
| Orphanet | ORPHA:1867 |
| Treatments | 0 drug(s) |
| Symptoms on record | 23 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO