Acrorenal Syndrome

Dieker and Opitz (1969) described 3 patients with the association of major malformations of the kidneys and limbs, mainly absence deformities of digits. Curran and Curran (1972) described a case and pointed out that paternal age was sometimes increased (44 years in their case and 57 years in one of Dieker and Opitz). All cases have been male and sporadic, without parental consanguinity. Opitz (1982) pointed out that this is not, to use his terminology, a causal entity, but rather a nonspecific developmental field defect.

Scheuerman et al. (2003) stated that previously described anomalies in acrorenal syndrome included unilateral renal agenesis, duplication of the collecting system, renal hypoplasia leading to renal insufficiency, and vesicoureteral reflux with hydronephrosis. They described 2 patients with what they believed to be a new variant of acrorenal field defect. Both patients had horseshoe kidney, which the authors stated had not previously been described with acrorenal field defect. One of the patients had preaxial polydactyly of the right hand. The other had left hand ectrodactyly.

Kroes et al. (2004) reviewed 95 reported cases of limb deficiency and a renal or urinary tract anomaly with no diagnosis or recognized phenotype and found that the data suggested an association between limb deficiencies and renal anomalies, possibly explained by the concept of the acrorenal polytopic developmental field defect. Kroes et al. (2004) concluded, however, that the data did not yield evidence for the existence of a distinct syndrome, defined as a pattern of causally related multiple anomalies, and that use of the term 'acrorenal syndrome' should be avoided.