Loeys-Dietz Syndrome

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Loeys-Dietz syndrome manifestations.jpg
Loeys-Dietz Syndrome
Inheritance Autosomal dominant
Genetics Heterozygous pathogenic variant in SMAD2, SMAD3, TGFB2, TGFB3, TGFBR1, or TGFBR2

Loeys-Dietz Syndrome (LDS) is a Marfan-like disease that was only discovered in 2005.

Clinical Features

LDS can affect the following areas:

  • Vascular findings: cerebral, thoracic, and abdominal arterial aneurysms and/or dissections. Aortic root dilatation is the most common (95% of probands)
  • Neuromusculoskeletal findings: pectus excavatum or pectus carinatum, scoliosis, joint laxity, arachnodactyly, talipes equinovarus, cervical spine malformation and/or instability, dural ectasia
  • 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 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.


GeneReviews - Loeys-Dietz Syndrome

Literature Review