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Interdisciplinary CompetenceMolecular Diagnostics
Know how in the analysis of genetic material.
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IllnessLoeys-Dietz-/ Marfan-/ vaskuläres Ehlers-Danlos-Syndrom, Differentialdiagnose


Short information

Comprehensive differential diagnostic panel for Loeys-Dietz-/ Marfan-/ vaskuläres Ehlers-Danlos syndrome comprising 6 "guideline"-curated and altogether 11 curated genes

Number of genes
10 Accredited laboratory test
Examined sequence length
25,8 kb (Core-/Core-canditate-Genes)
34,6 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications




Gene panel

Selected genes

NameExon Length (bp)OMIM-GHeredity

Informations about the disease

Clinical Comment

Group of diseasesMP6544 Loeys-Dietz / Marfan / vascular Ehlers-Danlos syndrome, differential diagnosis

The clinical differential diagnosis between patients with Marfan (MFS), Loeys-Dietz syndrome (LDS) and those with the Ehlers-Danlos (EDS) vascular type is sometimes quite difficult, especially in the early stages and when the condition is mild. MFS patients have ectopia lentis and remarkably long limbs. Patients with LDS tend to have more translucent skin, and the veins are clearly visible. Severe scarring and slight bruising are more common in LDS patients. Clubfoot, heart defects and cleft palate are more frequently associated with LDS. LDS is similar to the vascular EDS type in terms of skin findings. In both LDS and vascular type EDS, arterial aneurysms are relatively common, spontaneous organ ruptures are less common. Clubfoot is observed in both diseases. Hypertelorism and bifidal uvulas are more common in LDS.

The "classic" MFS is caused by mutations in the FBN1 gene (approx. 95% mutation detection probability in patients meeting the clinical criteria). LDS can be caused by mutations in six genes (SMAD2, SMAD3, TGBF2, TGBF3, TGFBR1, TGFBR2). COL3A1 mutations cause vascular EDS.

Reference: https://www.ncbi.nlm.nih.gov/books/NBK1133/https://www.ncbi.nlm.nih.gov/books/NBK1335/https://www.ncbi.nlm.nih.gov/books/NBK1494/



  • Allelic: Acromicric dysplasia (FBN1)
  • Allelic: Caffey disease (COL1A1)-IV
  • Allelic: Colorectal cancer, hereditary nonpolyposis, type 6 (TGFBR2)
  • Allelic: Ectopia lentis, familial (FBN1)
  • Allelic: Esophageal cancer, somatic (TGFBR2)
  • Allelic: Geleophysic dysplasia 2 (FBN1)
  • Allelic: MASS syndrome (FBN1)
  • Allelic: Macular degeneration, early-onset (FBN2)
  • Allelic: Marfan lipodystrophy syndrome (FBN1)
  • Allelic: Multiple self-healing squamous epithelioma, susceptibility to (TGFBR1)
  • Allelic: Neural tube defects, folate-sensitive, susceptibility to (MTRR)
  • Allelic: Osteogenesis imperfecta, type I (COL1A1)
  • Allelic: Polymicrogyria with/-out vascular-type EDS (COL3A1)
  • Allelic: Stiff skin syndrome (FBN1)
  • Allelic: Weill-Marchesani syndrome 2, AD (FBN1)
  • Contractural arachnodactyly, congenital (FBN2)
  • DD: Dunbar-/ Ligamentum-arcuatum syndrome stomach pain: compressed A. coeliaca (Truncus coeliacus)
  • Ehlers-Danlos syndrome, arthrochalasia type, 1 (COL1A1)
  • Ehlers-Danlos syndrome, vascular type (COL3A1)
  • Loeys-Dietz syndrome 1 (TGFBR1)
  • Loeys-Dietz syndrome 2 (TGFBR1)
  • Loeys-Dietz syndrome 3 (SMAD3)
  • Loeys-Dietz syndrome 4 (TGFB2)
  • Marfan syndrome (FBN1)
Heredity, heredity patterns etc.
  • AD
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined