Table 3. [Clinical Features of Loeys-Dietz Syndrome...]. - GeneReviews®

Clinical Feature	Marfan Syndrome	Loeys-Dietz Syndrome	Shprintzen -Goldberg Syndrome
Developmental delay	−	−	−	−	−	−	++
Ectopia lentis	+++	−	−	−	−	−	−
Cleft palate / bifid uvula	−	++	+	+	+	+	+
Widely spaced eyes	−	++	+	+	+	+	++
Craniosynostosis	−	++	+	−	−	−	+++
Tall stature	+++	+	+	++	+	+	+
Arachnodactyly	+++	++	+	+	+	+	++
Pectus deformity	++	++	++	++	+	+	++
Clubfoot	−	++	+	++	+	−	+
Osteoarthritis	+	+	+++	+	+	+	−
Aortic root aneurysm	+++	++	++	++	+	+	+
Arterial aneurysm	−	++	+	+	+	+	+
Arterial tortuosity	−	++	++	+	+	+	+
Early dissection	+	+++	++	+	+	+	−
Bicuspid aortic valve	−	++	+	+	+	+	+
Mitral valve insufficiency	++	+	+	++	+	+	+
Striae	++	+	+	+	+	+	+
Dural ectasia	+	+	+	+	−	−	+

GeneReviews^® [Internet].

Adam MP, Feldman J, Mirzaa GM, et al., editors.

Seattle (WA): University of Washington, Seattle; 1993-2024.

GeneReviews® chapters are owned by the University of Washington. Permission is hereby granted to reproduce, distribute, and translate copies of content materials for noncommercial research purposes only, provided that (i) credit for source (http://www.genereviews.org/) and copyright (© 1993-2024 University of Washington) are included with each copy; (ii) a link to the original material is provided whenever the material is published elsewhere on the Web; and (iii) reproducers, distributors, and/or translators comply with the GeneReviews® Copyright Notice and Usage Disclaimer. No further modifications are allowed. For clarity, excerpts of GeneReviews chapters for use in lab reports and clinic notes are a permitted use.

For more information, see the GeneReviews® Copyright Notice and Usage Disclaimer.

For questions regarding permissions or whether a specified use is allowed, contact: ude.wu@tssamda.

NCBI Bookshelf. A service of the National Library of Medicine, National Institutes of Health.

Clinical Feature	Marfan Syndrome	Loeys-Dietz Syndrome					Shprintzen -Goldberg Syndrome
Clinical Feature	FBN1	TGFBR1/ TGFBR2	SMAD3	TGFB2	TGFB3	SMAD2	SKI
Developmental delay	−	−	−	−	−	−	++
Ectopia lentis	+++	−	−	−	−	−	−
Cleft palate / bifid uvula	−	++	+	+	+	+	+
Widely spaced eyes	−	++	+	+	+	+	++
Craniosynostosis	−	++	+	−	−	−	+++
Tall stature	+++	+	+	++	+	+	+
Arachnodactyly	+++	++	+	+	+	+	++
Pectus deformity	++	++	++	++	+	+	++
Clubfoot	−	++	+	++	+	−	+
Osteoarthritis	+	+	+++	+	+	+	−
Aortic root aneurysm	+++	++	++	++	+	+	+
Arterial aneurysm	−	++	+	+	+	+	+
Arterial tortuosity	−	++	++	+	+	+	+
Early dissection	+	+++	++	+	+	+	−
Bicuspid aortic valve	−	++	+	+	+	+	+
Mitral valve insufficiency	++	+	+	++	+	+	+
Striae	++	+	+	+	+	+	+
Dural ectasia	+	+	+	+	−	−	+