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Adam MP, Feldman J, Mirzaa GM, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2024.

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Table 3.

Comparison of Clinical Features of SGS, TGFBR1-/TGFBR2-LDS, and MFS

Clinical FeatureSGSTGFBR1-/TGFBR2-LDS 1MFS 2
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 tortuosityRare++−
Early dissection−++++
Bicuspid aortic valve−++−
Mitral valve insufficiency++++
Striae−+++
Dural ectasia+++
+

= feature is present; ++ = feature is more commonly present; +++ = feature is most commonly present; − = feature is absent; LDS = Loeys-Dietz syndrome; MFS = Marfan syndrome; SGS = Shprintzen-Goldberg syndrome

1.

Approximately 75%-85% of Loeys-Dietz syndrome is attributed to pathogenic variants in TGFBR2 or TGFBR1. LDS is also known to be associated with heterozygous pathogenic variants in SMAD2, SMAD3, TGFB2, and TGFB3. LDS is inherited in an autosomal dominant manner.

2.

Marfan syndrome is caused by pathogenic variants in FBN1 and inherited in an autosomal dominant manner.

From: Shprintzen-Goldberg Syndrome

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