TABLE 3.

Renal agenesis (unilateral or bilateral) and related syndromes

Syndrome (Gene or copy number variant)	Inheritance	Other Anomalies/Renal Agenesis or Other Renal Presentations
Kallman syndrome (KAL1)	X-linked	Anosmia; hypogonadotropic hypogonadism; renal agenesis
Lenz micro-opthalmia (BCOR)	X-linked	Micro-opthalmia; genital abnormalities; renal agenesis
Goltz-Gorlin syndrome (PORCN)	X-linked	Dermal hypoplasia; limb defects; cardiac abnormalities; renal agenesis
Fraser syndrome (FRAS1)	Autosomal recessive	Crypto-opthalmos; ambiguous genitalia; cutaneous syndactyly; malformed ears; dysplastic kidneys; unilateral or bilateral renal agenesis.
Smith-Lemli-Opitz syndrome (DHCR7)	Autosomal recessive	2–3 toe syndactyly; post-axial polydactyly; growth restriction; cardiac and brain abnormalities; ambiguous genitalia; urinary tract dilation, cystic or hypoplastic kidneys, hypospadias, unilateral or bilateral renal agenesis.
Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome [MFRG syndrome] (CTU2)	Autosomal recessive	Cardiac abnormalities; lissencephaly; skeletal anomalies; polydactyly; founder mutation in Saudi population in a synonymous variant T247 T thought to impair splicing causing a frameshift that causes premature truncation46; renal agenesis.
Cat eye syndrome [Inv dup (22)(q11)]	Autosomal dominant	Coloboma of the iris and anal atresia, cardiac abnormalities; renal agenesis.
Antley-Bixler syndrome (FGFR2)	Autosomal dominant	Craniosynostosis, joint contractures, choanal atresia, ambiguous genitalia, vertebral anomalies, thin ribs; renal agenesis.
Branchio-oto-renal syndrome	Autosomal dominant	Ear anomalies such as ear pits, microtia, anotia, branchial cysts; renal agenesis.
Ectrodactly-ectodermal dysplasia-cleft syndrome (P63)	Autosomal dominant	Ectrodactyly; ectrodermal dysplasia; cleft palate; megaureter, ureterocele, renal aplasia, genital anomalies.
Townes-Brock syndrome (SALL1)	Autosomal dominant	Imperforate anus; external ear anomalies; deafness; thumb anomalies; renal agenesis.
Renal coloboma syndrome (PAX2)	Autosomal dominant	Fetal renal hypodysplasia47–49; renal agenesis.
Renal hypoplasia/aplasia (GREB1L)	Autosomal dominant	Bilateral renal agenesis, anhydramnios, unilateral renal agenesis, vesicoureteral reflux
Miller Dieker syndrome (LIS1)	Autosomal dominant	Lissencephaly, midface hypoplasia, low set ears, thick upper lip, omphalocele, rare renal agenesis50
Fraser syndrome (FRAS13, FREM2, and GRIP1)	Autosomal recessive	Cryptopthalmos, syndactyly, umbilical hernia, cleft lip and palette, skeletal abnormalities, intellectual delays; renal dysplasia, renal agenesis.51
Goldenhar syndrome (SKI)	Autosomal dominant	Craniosynostosis, hypertelorism, exophthalmos, micrognathia, Marfanoid habitus, developmental delay; rare renal agenesis.50

Note. Adapted from Dias et al, 2014.¹