Types

 nonsyndromal bilateral cystic renal dysplasia

• sporadic nonsyndromal cystic renal dysplasia
• familial nonsyndromal cystic renal dysplasia
• isolated renal Meckel syndrome
• partial trisomy resulting from parental unbalanced translocation

 syndromal bilateral cystic renal dysplasia (malformative syndromes - multisystem maldevelopment)

• malformative syndromes
  • Meckel syndrome
  • Bardet-Bield syndrome (BBS)
  • Jeune syndrome
  • short-rib polydactyly syndrome
  • nail-patella syndrome
  • DiGeorge syndrome
  • Cumming syndrome (MIM.211890)
  • Goldenhar syndrome
  • situs inversus totalis with reno-pancreatic dysplasia (MIM.603643)

• genetic metabolic diseases
  • Zellweger syndrome
  • carnitine palmitoyltransferase deficiency type 2 (CPT2) (MIM.608836)
  • glutaric aciduria type 2 (multiple acyl-CoA dehydrogenation deficiency - MADD) (MIM.231680)

• renal malformations
  • hereditary renal adysplasia (association renal agenesis-renal dysplasia)

• chromosomal diseases
  • trisomy 13
  • trisomy 18
  • trisomy 21

• embryopathies/fetopathies
  • fetal alcohol syndrome
  • diabetic embryopathy

• miscellaneous
  • tuberous sclerosis complex
  • von Hippel-Lindau syndrome
  • Beckwith-Wiedemann syndrome

Association

 BNOMRD and polydactyly

• Meckel syndrome
• Bardet-Bield syndrome
• short rib-polydactyly syndromes

 BNOMRD and heterotaxia (#12605452#)

• renal dysplasia, situs inversus totalis, and multisystem fibrosis (#1570238#)
• renal dysplasia, situs inversus totalis, pancreatic dysplasia (#9934983#)
• bilateral renal dysplasia with pancreatic fibrosis, meconium ileus and situs inversus totalis (#7304173#)
• bilateral renal dysplasia, pancreatic fibrosis, intrahepatic biliary dysgenesis, and situs inversus totalis (#3402978#)

 NOBMRD and asplenia or hyposplenia

• Crawfurd syndrome (MIM.208540)

Associations

 ventricular septal defects
 aortic coarctation
 intestinal atresia
 myelomeningocele
 controlateral congenital ureteral stenosis and hydronephrosis in unilateral case
 situs anomalies (heterotaxia)

Differential diagnosis

 oligocystic kidneys
 polycystic kidney diseases (PKDs)

• ADPKD (autosomal dominant polycystic kidney disease)
• ARPKD (autosomic recessive polycystic kidney disease or hepato-pancreato-renal dysplasia)

See also

 reno-hepato-pancreatic dysplastic syndromes