Table 1.

Extracellular matrix syndromes with VUR as a urinary tract phenotype

Syndrome	Inheritance	Gene	Characteristic features	Renal and urinary tract phenotypes
Cutis laxa	Autosomal dominant, Autosomal recessive	ELN FBLN4, FBLN5 ATP6V0A2, ATP7A, EFEMP2	Lax and inelastic skin, vascular anomalies, gastrointestinal diverticula, abdominal hernia, genital prolapse	VUR, bladder diverticula
Ehlers–Danlos	Autosomal dominant, Autosomal recessive	ADAMTS2, COL-I-A1, COL-I-A2, COL-III-A1, COL-V-A1, COL-V-A2, PLOD1, TNXB	Hyperextensible skin, joint hypermobility, poor wound healing, easy bruising and scarring, molluscoid pseudotumors, subcutaneous spheroids, muscle hypotonia	VUR, bladder diverticula
Marfan	Autosomal dominant	FBN1	Increased height, disproportionately long limbs and digits, anterior chest deformity, joint laxity, vertebral column deformity, highly arched palate	VUR, bladder diverticula
Williams	Autosomal dominant	ELN	Cardiovascular defects, mental retardation, joint, skin, and facial abnormalities	VUR, bladder diverticula, Renal artery stenosis, agenesis, ectopia

VUR vesicoureteral reflux