Loeys-Dietz syndrome
Findings
No curated finding names Loeys-Dietz syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
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.
Definition from the Mondo Disease Ontology (MONDO:0018954), read 2026-09-29. CC BY 4.0.
Features
37 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Aortic aneurysmHPOHP:0004942
- Very frequent (80% to 99% of cases)
- Aortic dissectionHPOHP:0002647
- Very frequent (80% to 99% of cases)
- Arterial dissectionHPOHP:0005294
- Very frequent (80% to 99% of cases)
- Arterial tortuosityHPOHP:0005116
- Very frequent (80% to 99% of cases)
- Patent ductus arteriosusHPOHP:0001643
- Very frequent (80% to 99% of cases)
- Pes planusHPOHP:0001763
- Very frequent (80% to 99% of cases)
- Uterine ruptureHPOHP:0100718
- Very frequent (80% to 99% of cases)
- Vascular dilatationHPOHP:0002617
- Very frequent (80% to 99% of cases)
- ArachnodactylyHPOHP:0001166
- Frequent (30% to 79% of cases)
- AsthmaHPOHP:0002099
- Frequent (30% to 79% of cases)
- Atypical scarring of skinHPOHP:0000987
- Frequent (30% to 79% of cases)
- Bifid uvulaHPOHP:0000193
- Frequent (30% to 79% of cases)
Show the remaining 25
- Blue scleraeHPOHP:0000592
- Frequent (30% to 79% of cases)
- Camptodactyly of fingerHPOHP:0100490
- Frequent (30% to 79% of cases)
- Cleft palateHPOHP:0000175
- Frequent (30% to 79% of cases)
- CraniosynostosisHPOHP:0001363
- Frequent (30% to 79% of cases)
- Eczematoid dermatitisHPOHP:0000964
- Frequent (30% to 79% of cases)
- HypertelorismHPOHP:0000316
- Frequent (30% to 79% of cases)
Genes
4 genes
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- TGFBR1HGNC:11772
- Definitive · ClinGen · Autosomal dominant · 2019
- Supportive · Orphanet · Autosomal dominant · 2021
- SMAD2HGNC:6768
- Strong · Genomics England PanelApp · Autosomal dominant · 2020
- TGFBR2HGNC:11773
- Supportive · Orphanet · Autosomal dominant · 2021
- TGFB3HGNC:11769
- Limited · Ambry Genetics · Autosomal recessive · 2020
Where it sits
Other names
1 name
Resolves to: Loeys-Dietz syndrome
- Also called
- aortic aneurysm syndrome due to TGF-beta receptors anomalies