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Loeys-Dietz Syndrome
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| Loeys-Dietz Syndrome | |
|---|---|
| Inheritance | Autosomal dominant |
| Genetics | Heterozygous pathogenic variant in SMAD2, SMAD3, TGFB2, TGFB3, TGFBR1, or TGFBR2 |
This article is a stub.
Clinical Features
Loeys-Dietz is a Marfan-like disease that was only discovered in 2005.
- Vascular findings: cerebral, thoracic, and abdominal arterial aneurysms and/or dissections. Aortic root dilatation is the most common (95% of probands)
- Skeletal findings: pectus excavatum or pectus carinatum, scoliosis, joint laxity, arachnodactyly, talipes equinovarus, cervical spine malformation and/or instability
- Craniofacial findings: widely spaced eyes (hypertelorism), strabismus, bifid uvula / cleft palate, and craniosynostosis that can involve any sutures)
- Cutaneous findings: velvety and translucent skin, easy bruising, and dystrophic scars
- Other: strong predisposition to allergic and inflammatory disease including atopy, IBD, and eosinophilic gastrointestinal disorders.
It has locus heterogeneity. Multiple different genes can cause the condition. There are five types depending on the gene. There is variation in phenotype even amongst family members with the same pathogenic variant.
Diagnosis
Diagnosis is made by finding a pathogenic variant on molecular genetics PLUS either aortic root enlargement or other compatible systemic features with special emphasis on arterial tortuosity.
Resources
GeneReviews - Loeys-Dietz Syndrome
Literature Review
Literature Review
- Reviews from the last 7 years: review articles, free review articles, systematic reviews, meta-analyses, NCBI Bookshelf
- Articles from all years: PubMed search, Google Scholar search.
- TRIP Database: clinical publications about evidence-based medicine.
- Other Wikis: Radiopaedia, Wikipedia Search, Wikipedia I Feel Lucky, Orthobullets,
