Table 5.

Cutis Laxa Subtypes to Consider in the Differential Diagnosis of Loeys-Dietz Syndrome

Disease NameGeneOMIMMOIClinical Findings
Cutis laxaEmphysemaAneurysmsIDGI & GU malformations
FBLN5-related cutis laxa FBLN5 219100 AR+++++++
EFEMP2-related cutis laxa EFEMP2 (FBLN4) 614437 AR+++++++
ADCLELN or FBLN5 123700

AD = autosomal dominant; ADCL = autosomal dominant cutis laxa; AR = autosomal recessive; GI = gastrointestinal; GU = genitourinary; ID = intellectual disability; MOI = mode of inheritance

From: Loeys-Dietz Syndrome

Cover of GeneReviews®
GeneReviews® [Internet].
Adam MP, Mirzaa GM, Pagon RA, et al., editors.
Seattle (WA): University of Washington, Seattle; 1993-2023.
Copyright © 1993-2023, University of Washington, Seattle. GeneReviews is a registered trademark of the University of Washington, Seattle. All rights reserved.

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 ( and copyright (© 1993-2023 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.