Table 1.

Genetic Syndromes, underlying defective gene, and IA Incidence

Syndrome	Major Gene(s)	IA incidence	References
Autosomal Dominant Polycystic Kidney Disease (ADPKD)	PKD1, PKD2	11%	(Cagnazzo et al. 2017)
Type IV Ehlers-Danlos Syndrome (Vascular Subtype)	Col3a1	17.5%	(S. T. Kim et al. 2016)
Microcephalic/Majewski’s Osteodysplastic Primordial Dwarfism, Type II (MOPD2)	PCNT	up to 50%	(Teo et al. 2016; Bober et al. 2010; Brancati et al. 2005; Li et al. 2015)
Loeys-Dietz Syndrome (LDS)	TGFBR1, TGFBR2, SMAD3, TGFB2	10-28%	(Loeys et al. 2006; Rodrigues et al. 2009; Vanakker et al. 2011; S. T. Kim et al. 2016)
Marfan Syndrome	FBN1	0-14%	(van den Berg et al. 1996; Conway et al. 1999; S. T. Kim et al. 2016)
Neurofibromatosis Type I	NF1	9%	(Conway et al. 2001; Schievink et al. 2005)