Loeys-Dietz syndrome
Loeys-Dietz syndrome
Definition
Loeys-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.
Also known as aortic aneurysm syndrome due to TGF-beta receptors anomalies, Loeys-Dietz syndrome — per MONDO