Table 1

Features of differential diagnosis

Differential diagnosisGeneDiscriminating features
Loeys–Dietz syndrome (LDS)TGFBR1/2Bifid uvula/cleft palate, arterial tortuosity, hypertelorism, diffuse aortic and arterial aneurysms, craniosynostosis, clubfoot, cervical spine instability, thin and velvety skin, easy bruising
Shprintzen–Goldberg syndrome (SGS)FBN1 and otherCraniosynostosis, mental retardation
Congenital contractural arachnodactyly (CCA)FBN2Crumpled ears, contractures
Weill–Marchesani syndrome (WMS)FBN1 and ADAMTS10Microspherophakia, brachydactyly, joint stiffness
Ectopia lentis syndrome (ELS)FBN1
Lack of aortic root dilatation
HomocystinuriaCBSThrombosis, mental retardation
Familial thoracic aortic aneurysm syndrome (FTAA)TGFBR1/2, ACTA2Lack of Marfanoid skeletal features, levido reticularis, iris flocculi
FTAA with bicupid aortic valve (BAV)
FTAA with patent ductus arteriosus (PDA)MYH11
Arterial tortuosity syndrome (ATS)SLC2A10Generalised arterial tortuosity, arterial stenosis, facial dysmorphism
Ehlers–Danlos syndromes (vascular, valvular, kyphoscoliotic type)COL3A1, COL1A2, PLOD1Middle sized artery aneurysm, severe valvular insufficiency, translucent skin, dystrophic scars, facial characteristics