Renal defects and limb deficiencies in 197 infants: Is it possible to define the “acrorenal syndrome”?

Abstract

Dieker and Opitz in 1969 described the simultaneous occurrence of limb deficiencies (LDs) and renal anomalies (RAs) in three patients. Curran and Curran introduced in 1972 the term "acrorenal syndrome." Since then, the term "acrorenal syndrome" is used occasionally, but a well-circumscribed definition has never been established. On the other hand, the concept of an acrorenal polytopic developmental field defect was postulated by Opitz and others to explain the association between RAs and LDs. We undertook this study to investigate whether this acrorenal "syndrome" could be identified in a large group of cases with congenital RAs and a limb deficiency. Eleven birth defect registries that are part of the International Clearinghouse for Birth Defects Monitoring (i.e., registries of ICBDMS in Finland, France [Paris and Strasbourg], Israel, Italy [IPIMC and Emilia Romagna], Mexico, Northern Netherlands, South America, Spain, and the United States [Atlanta]) provided data on 815 infants who had a LD and at least one other major congenital anomaly. These 815 cases were ascertained among 5,163,958 births. We selected the 197 cases who had both a limb deficiency and a renal or urinary tract anomaly. In about 50% of these cases a diagnosis or a recognized phenotype was reported, with chromosomal aberrations and VACTERL being most frequent. In the group with no diagnosis or recognized phenotype (95 cases), we looked for (a) clustering of specific types of LDs and RAs, and (b) for clustering of associated anomalies, in order to find evidence for and be able to define better the term "acrorenal syndrome." Our data suggest that an association exists between LDs and RAs, possibly explained by the concept of the acrorenal polytopic developmental field defect. However, our dataset does not yield evidence for the existence of one distinct "syndrome," defined as a pattern of causally related multiple anomalies. Therefore, use of the term "acrorenal syndrome" should be avoided.

Blastogenetic associations: General considerations

“…Galis and Metz [] noted that “induced anomalies appear to be mainly influenced by the timing rather than by the nature of the teratological treatment” so, like developmental fields, teratogenetic fields seem to be causally nonspecific. teratogenetic commonalities may be a more accurate explanation for certain multiple anomalies, such as acrorenal findings, than a polytopic developmental field [Kroes et al, ].…”

Acrorenal Mandibular Syndrome: A Case Report

“…Although the most typical limb deficiencies (LD) for the acrorenal syndrome is split hand/ split foot 8 ; Kroes et al 6 did not support this suggestion as several digital malformation like polydactyly, syndactyly, ectrodactyly other than split hand/foot are also observed in cases of acrorenal syndrome indicating clinical/ phenotypic variability in their reports.…”

“…This case is born to consanguineous parents. So the mechanism of inheritance is thought most likely to be autosomal recessive as is seen in the reports by Kroes 6 . …”

“…This association is seen in a very heterogeneous group of acrorenal syndrome 6 .The ARM syndrome is also known as acrorenal-uterine-mandibular syndrome or split hand and split foot syndrome with mandibular hypoplasia.…”

Polycystic kidney disease in neonate with acrorenal mandibular syndrome

“…There are case reports showing a strong association between limb and renal anomalies. This association is seen in a very heterogenous group of acrorenal syndrome with OMIM 102520 and 201310 (Kroes et al , 2004). Discussion of acrorenal syndrome is beyond the scope of this case report.…”