Table 2

Examples of human renal malformations associated with genetic defects

Associated with syndromes
 Apert’s syndrome2-150
 Bardet-Biedl syndrome2-151
 Branchio-oto-renal syndrome2-150
 Campomelic dysplasia2-150
 DiGeorge syndrome2-151
 Kallmann’s syndrome (X linked type)2-150
 Meckel’s syndrome2-151
 Renal-coloboma syndrome2-150
 Simpson-Golabi-Behmel syndrome2-150
 Smith-Lemli-Opitz syndrome2-151
 Zellweger syndrome2-150
 Renal aplasia and dysplasia
 Primary vesicoureteric reflux
  • 2-150 Defined mutation.

  • 2-151 Locus known, but gene not yet known.

  • For the exact types of renal malformation in each disorder, please refer to references 2, 7, and 42.