Loeys-Dietz syndrome
MeSH: D055947ORPHA: 60030
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 Loeys-Dietz syndrome, sourced from HPO and Orphanet clinical annotations.
Joint hypermobilityPatent ductus arteriosusPes planusVascular dilatationAortic dissectionAortic aneurysmArterial tortuosityArterial dissectionUterine ruptureTall statureCleft palateBifid uvulaOrofacial cleftMalar flatteningHypertelorismMicrognathiaBlue scleraeEczematoid dermatitisAtypical scarring of skinStriae distensaeArachnodactylyCraniosynostosisTalipes equinovarusAsthmaScoliosisCamptodactyly of fingerMyopiaPectus excavatumPectus carinatumThin skinBruising susceptibilityJoint dislocationMitral regurgitationCardiac arrestAbnormal bleedingSpontaneous pneumothoraxEosinophilic infiltration of the esophagus
Classification & Codes
MeSH Code
D055947Orphanet Code
ORPHA:60030Loeys-Dietz syndrome
| MeSH | D055947 |
| Orphanet | ORPHA:60030 |
| Treatments | 0 drug(s) |
| Symptoms on record | 37 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO