Incidence and prevalence of congenital clubfoot in Apulia: a regional model for future prospective national studies

Incidence and prevalence of congenital clubfoot in Apulia: a regional model for future prospective national studies

Abstract Background Congenital clubfoot is a fairly common and severe congenital malformation, most often of idiopathic origin. A smaller percentage of cases is related to chromosomal abnormalities and genetic syndromes. It is estimated that 0.5/1000 newborns are affected worldwide, with a male to f...

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Bibliographic Details
Published in:Italian journal of pediatrics Vol. 49; no. 1; pp. 1 - 151
Main Authors: Panza, Raffaella, Albano, Federica, Casto, Alberto, Del Vecchio, Cosimo, Laforgia, Nicola, Dibello, Daniela
Format: Journal Article
Language:English
Published: Pisa BioMed Central 14-11-2023
BMC
Subjects:
Births
Chromosome aberrations
Clubfeet [MeSH]
Clubfoot
Clubfoot [MeSH]
Congenital defects
Congenital diseases
Congenital talipes equinovarus
Developing countries
Foot diseases
Genes
Genetic factors
Growth factors
Infant
LDCs
Mutation
Neonates
Newborn [MeSH]
Italy
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Summary:Abstract Background Congenital clubfoot is a fairly common and severe congenital malformation, most often of idiopathic origin. A smaller percentage of cases is related to chromosomal abnormalities and genetic syndromes. It is estimated that 0.5/1000 newborns are affected worldwide, with a male to female ratio of 2:1 and greater distribution in developing countries (80%). The “European Surveillance of Congenital Anomalies (EUROCAT)” reported clubfoot prevalence in European newborns, but data regarding Italy are missing or poor. We aim to provide detailed data on clubfoot incidence according to the Apulian Regional Registry on Congenital Malformations and to report current knowledge on clubfoot genetic factors. Methods We extrapolated data from the Regional Registry of Congenital Malformations to evaluate incidence and prevalence of congenital clubfoot in Apulia, Italy over a period of four years (2015–2018). We also performed a narrative review focusing on genetic mutations leading to congenital clubfoot. Results Over the period from 2015 to 2018 in Apulia, Italy, 124,017 births were recorded and 209 cases of clubfoot were found, accounting for an incidence rate of 1.7/1,000 and a prevalence rate of 1.6/1,000. Six families of genes have been reported to have an etiopathogenetic role on congenital clubfoot. Conclusions Incidence and prevalence of congenital clubfoot in Apulia, Italy, are comparable with those reported in the other Italian regions but higher than those reported in previous studies from Europe. Genetic studies to better classify congenital clubfoot in either syndromic or isolated forms are desirable.
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ISSN:1824-7288
1720-8424
1824-7288
DOI:10.1186/s13052-023-01559-9