Definiton: Total absence of renal structures after macroscopical AND microscopical examinations.

Synopsis

 absence of renal structures (after macroscopical AND microscopical examinations)
 absence of renal arteries and ureteres
 urinary bladder hypoplastic or agenetic (absent)
 frequent defective urethra
 fetal anuria with oligohydramnios sequence

Associations

 congenital cystic adenomatoid malformation type 2 (CCAM type 2)
 left heart hypoplasia
 urorectal septum malformation sequence
 anomalies of hindgut
 anomalies of lower urinary tract
 anomalies of internal genitalia

• uterine malfomations (bicornuate uterus)
• vaginal malformations
• epididymal malformations
• vas deferens malformations

 caudal regression syndrome

• sirenomelia

 lethal acrofacial dysostosis (#11822708#)

• mesomelic limb abnormalities
• pre- and post-axial hand defects

 single umbilical artery

Etiology

 sporadic
 RET germline mutations
 trisomy 22 (#7625758#)

See also:

 renal malformations
 oligohydramnios sequence (Potter sequence)