Synopsis
immature conjonctive tissue
Types
non-syndromic bilateral cystic renal dysplasia (non-syndromic BNORD)
- sporadic non-syndromic cystic renal dysplasia
- familial non-syndromic 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 (MKS) (MIM.249000)
- Bardet-Bield syndrome (BBS) (MIM.209900)
- VATER association (VACTERL association) (MIM.192350)
- DiGeorge syndrome (MIM.188400)
- Cumming syndrome (MIM.211890)
- Goldenhar syndrome (MIM.164210)
- situs inversus totalis with reno-pancreatic dysplasia (MIM.603643)
- branchiootorenal syndrome (MIM.113650) (EYAI mutations at 8q13.3)
- Feingold syndrome (NMYC haploinsufficiency) (15185158)
-
osteochondrodysplasias
- short-rib polydactyly syndromes (SRPSs)
- short-rib polydactyly syndrome type 1 (Saldino-Noonan syndrome) (SRPS1) (MIM.263530)
- short-rib polydactyly syndrome type 2 (Majewski syndrome) (SRPS2) (MIM.263520)
- short-rib polydactyly syndrome type 4 (Beemer-Langer syndrome) (SRPS4) (9610623)
- short-rib polydactyly syndromes (SRPSs)
- Jeune syndrome (MIM.208500)
- nail-patella syndrome (MIM.256020)
- Ellis-van Creveld disease (MIM.225500)
- ischiospinal dysostosis (12868471)
- Elejalde syndrome (acrocephalopolydactylous dysplasia) (MIM.200995)
- thanatophoric dysplasia type 1 (17375526)
- Roberts syndrome (MIM.268300)
-
genetic metabolic diseases
- Zellweger syndrome (MIM.214100)
- carnitine palmitoyltransferase deficiency type 2 (CPT2) (MIM.608836)
- glutaric aciduria type 2 (multiple acyl-CoA dehydrogenation deficiency - MADD) (MIM.231680)
- Smith-Lemli-Opitz syndrome (SLOS) (MIM.270400)
- chromosomal anomalies
- trisomy 9
- trisomy 13
- trisomy 18
- trisomy 21
- t(1;2)(q32;p25) (1q32 and 2p25) (12694239)
- 17q12 deletion including TCF2 (17924346)
- embryopathies/fetopathies
- miscellaneous
- TCF2-associated renal dysplasia
- hypoparathyroidism, deafness, and renal dysplasia syndrome (GATA3-associated renal dysplasia) (15705923)
- tuberous sclerosis complex
- Beckwith-Wiedemann syndrome (BWS)
Associations
other renal anomalies
-
renal malformations with BNORD
- hereditary renal adysplasia (association renal agenesis-renal dysplasia)
- nephroblastomatosis (2832837)
BNORD and polydactyly
- Meckel syndrome (MKS)
- Bardet-Bield syndrome (BBS)
- short rib-polydactyly syndromes
BNORD and heterotaxia (12605452)
- situs inversus totalis (10746410)
- 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)
- BNORD and asplenia or hyposplenia
associated malformations
- ductal plate malformation (DPM) (congenital hepatic fibrosis) (11155779)
- ventricular septal defects (VSDs) (17106555)
- Ebstein anomaly (8725780)
- aortic coarctation
- intestinal atresia
- anal atresia (17106555)
- myelomeningocele
- controlateral congenital ureteral stenosis and hydronephrosis in unilateral case
- situs anomalies (heterotaxia)
- penile agenesis (17106555)
- severe pancreatic hypoplasia (HNF1B/MODY5 mutations) (HP.10745) (16801329)
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)
Case records
Case 12763: Non-syndromic non-obstructive multicystic renal dysplasia
See also
reno-hepato-pancreatic dysplastic syndromes
bilateral obstructive renal dysplasia (BORD)
References
Dursun A, Ermis B, Numanoglu V, Bahadir B, Seckiner I. Bilateral multicystic renal dysplasia with potter sequence. A case with penile agenesis. Saudi Med J. 2006 Nov;27(11):1745-7. PMID: 17106555
Reviews
Bisceglia M, Galliani CA, Senger C, Stallone C, Sessa A. Renal cystic diseases: a review. Adv Anat Pathol. 2006 Jan;13(1):26-56. PMID: 16462154
Woolf AS, Price KL, Scambler PJ, Winyard PJ. Evolving concepts in human renal dysplasia. J Am Soc Nephrol. 2004 Apr;15(4):998-1007. PMID: 15034102