Table 1.

Some syndromes encountered in the Genetic RTM Clinic

Gene (syndrome)	Genetic mechanism	Type of RTM	Manifestations other than RTMs
PAX2 (renal coloboma syndrome)	Autosomal dominant	Renal hypoplasia (also renal dysplasia and VUR)	Visual acuity defects with optic disc coloboma (also sensorineural hearing loss, Arnold Chiari malformation, seizures and joint laxity)
HNF1B (Renal cysts and diabetes syndrome)	Autosomal dominant	Renal dysplasia, usually with cysts (also glomerulocystic disease, renal hypoplasia and hydonephrosis)	Diabetes mellitus, hyperuricemia and gout, hypomagnesemia and uterus malformations (and possibly chromophobe renal tumor)
KAL1 (X-linked Kallmann syndrome)	X-linked recessive	Renal agenesis (also renal dysplasia)	Anosmia and hypogonadotrophic gonadism (also high arched palate, pes cavus, and synkinesia)
EYA1/SIX1 (branchio-oto-renal syndrome)	Autosomal dominant	No typical manifestation but can include: renal agenesis, renal dysplasia, and calyceal cysts/diverticula	Pre-auricular pits, branchial fistulae, and deafness
FRAS/FREM2 (Fraser syndrome)	Autosomal recessive	Renal agenesis	Cryptophthalmos, syndactyly, abnormal genitalia, laryngeal malformations, and anal stenosis