Loeys–Dietz syndrome

Also known as: LDS

Aggressive aortic aneurysm syndrome with arterial tortuosity, hypertelorism and bifid uvula.

Medical specialty: Cardiology
Subspecialty: Cardiology / Heritable aortic disease
Sex & age distribution: Male: affected; Female: affected equally; Children: yes, severe early forms
Gene(s) involved: SMAD2, SMAD3, SMAD4, TGFB2, TGFB3, TGFBR1, TGFBR2, TGFBR3

Etiology & mechanism

Dysregulated TGF-beta signaling from variants in pathway genes.

Gene(s) involved (8)

SMAD2SMAD3SMAD4TGFB2TGFB3TGFBR1TGFBR2TGFBR3

Symptoms & signs (10)

aortic dissection at small diametersaortic root aneurysmarterial tortuositybifid uvulacleft palateclub footcraniosynostosiseasy bruisinghypertelorismjoint laxity

SyndromeScope — educational reference. Content is model-generated and not clinically verified; always confirm against OMIM, Orphanet and GeneReviews before clinical use.