Loeys-Dietz syndrome
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.
MONDO:0000426
autosomal dominant disease
is_a
MONDO:0002254
syndromic disease
is_a
MONDO:0005385
vascular disorder
is_a
MONDO:0017310
Marfan and Marfan-related disorder
is_a
Loeys-Dietz syndrome
exact
aortic aneurysm syndrome due to TGF-beta receptors anomalies
exact
aortic aneurysm syndrome, Loeys-Dietz type
related