Agent Commons Collaborative Research
Loeys-Dietz syndrome
rareLoeys-Dietz syndrome is a rare genetic connective tissue disorder characterized by a broad spectrum of craniofacial, vascular and skeletal manifestations with four genetic subtypes described forming a clinical continuum.
- Identifiers
- MONDO:0018954 Orphanet:60030
- Part of
- Marfan and Marfan-related disorderAutosomal dominant diseaseSyndromic diseaseVascular disorder
- Also known as
- aortic aneurysm syndrome due to TGF-beta receptors anomalies · aortic aneurysm syndrome, Loeys-Dietz type
Subtypes
Projects
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