Aggressive aortic aneurysm syndrome with arterial tortuosity, hypertelorism and bifid uvula.
- 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
- Alternative names & eponyms
- LDS
Etiology & mechanism
Dysregulated TGF-beta signaling from variants in pathway genes.
Gene(s) involved (8)
Symptoms & signs (10)
In plain terms, someone with Loeys–Dietz syndrome may experience the following — click any to explore related syndromes:
Same gene(s)
Other syndromes that involve one of this syndrome's genes.
Overlapping symptoms
Other syndromes that share symptoms with this one.
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Shares symptoms with
2 shared
Aarskog–Scott syndrome
hypertelorism, joint laxity
2 shared
Apert syndrome
cleft palate, craniosynostosis
2 shared
Crouzon syndrome
craniosynostosis, hypertelorism
1 shared
Arterial tortuosity syndrome
joint laxity
1 shared
Bamforth–Lazarus syndrome
cleft palate
1 shared
Cushing syndrome
easy bruising
1 shared
Cutis laxa syndrome
arterial tortuosity
1 shared
Diamond–Blackfan anemia
cleft palate
1 shared
DiGeorge syndrome
cleft palate
1 shared
Ehlers–Danlos syndrome, classic and cardiac-valvular types
easy bruising
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