Clusters of rare disorders and congenital anomalies in South America.

ABSTRACT:

Objective

To map geographic clusters of rare disorders and congenital anomalies reported in South America.

Methods

Qualitative systematic review conducted in Medline/PubMed, Lilacs, and Scielo electronic databases to identify studies meeting eligibility criteria. The strategy resulted in 1 672 unique articles, from which 164 were selected for full reading by a pair of reviewers.

Results

Fifty-five articles reported at least one cluster of genetic disorders or congenital anomalies in South American territory. From these papers, 122 clusters were identified, of which half (61) were related to autosomal recessive disorders. Sixty-five (53.3%) of the clusters were located in Brazil.

Conclusions

The results of the review reinforce that rare diseases and congenital a

SUBMITTER: Cardoso-Dos-Santos AC 

PROVIDER: S-EPMC10289474 | biostudies-literature | 2023

REPOSITORIES: biostudies-literature