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

Hester Y. Kroes, Richard S. Olney, Aldo Rosano, Yecai Liu, Eduardo E. Castilla, Guido Cocchi, Catherine De Vigan, María L. Martínez-Frías, Pierpaolo Mastroiacovo, Paul Merlob, Osvaldo Mutchinick, Annukka Ritvanen, Claude Stoll, Anthonie J. Van Essen, Jan Maarten Cobben, Martina C. Cornel

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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.

Original languageEnglish
Pages (from-to)149-155
Number of pages7
JournalAmerican journal of medical genetics
Issue number2
Publication statusPublished - 30 Aug 2004


  • Acrorenal syndrome
  • Birth defects
  • Developmental field defect
  • Limb deficiency
  • Limb-body wall complex
  • Renal anomalies
  • VATER association

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