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
614434 		AD+++−−

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

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