Syndromic renal or urinary tract malformation


Disease information
Reference centers
Patient information
Patient organisations

Orphanet » Detailed Information
ERKNet workgroup » Renal malformations
Recommended guidelines » Kidney Malformations & Ciliopathies
Disease tree Renal or urinary tract malformations
Subdiagnoses » Acro-pectoro-renal dysplasia » Acroosteolysis dominant type » Acrorenal syndrome » Alagille syndrome » Aniridia-renal agenesis-psychomotor retardation syndrome » AREDYLD (acral-renal-ectodermal-dysplasia-lipoatrophic-diabetes) syndrome » Bardet-Biedl syndrome (renal / urinary tract malformation) » Beckwith-Wiedemann syndrome » BNAR (Bifid nose, anorectal and renal anomalies) syndrome » BOR (branchio-oto-renal) syndrome » Cat-eye syndrome » Caudal regression sequence » CHARGE syndrome » Cornelia de Lange syndrome » Di George syndrome (22q11.2 deletion) » EEC (Ectrodactyly-ectodermal dysplasia-cleft lip/palate) syndrome » Fraser syndrome » HDR (Hypoparathyroidism-deafness-renal disease) syndrome » Holoprosencephaly-radial heart renal anomalies syndrome » Infundibulopelvic stenosis-multicystic kidney syndrome » Jeune syndrome (renal / urinary tract malformation) » Kabuki Syndrome » Kallmann syndrome » Mayer-Rokitansky-Küster-Hauser syndrome » Meckel syndrome (renal / urinary tract malformation) » Megacystis-microcolon-intestinal hypoperistalsis syndrome » Multicentric carpo-tarsal osteolysis with or without nephropathy » Noonan syndrome » Ochoa syndrome » OFD (Orofaciodigital) syndrome type 1 » Pallister-Hall syndrome » RCAD (Renal cysts and diabetes) syndrome » Renal coloboma syndrome » Renal nutcracker syndrome » Rubinstein-Taybi syndrome » Schinzel-Giedion syndrome » SERKAL syndrome » Simpson-Golabi-Behmel syndrome » Smith-Lemli-Opitz syndrome » Thyrocerebrorenal syndrome » Townes-Brocks syndrome » Trisomy 13 » Trisomy 18 » Turner syndrome » VACTERL/VATER association » WAGR syndrome
Patient Information Material
« Back to disease list

European Reference Networks
ERKNet is one of the 24 European Reference Networks (ERNs) approved by the ERN Board of Member States. The ERNs are co-funded by the European Commission.
For more information about the ERNs and the EU health strategy, please visit http://ec.europa.eu/health/ern