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Associated anomalies in individuals with polydactyly

E E Castilla1, R Lugarinho, M da Graça Dutra

  • 1ECLAMC at Instituto Oswaldo Cruz, FIOCRUZ, Rio de Janeiro, Brazil. castilla@centroin.com.br

American Journal of Medical Genetics
|January 8, 1999
PubMed
Summary

Polydactyly, a common congenital anomaly, is often isolated but can be associated with other birth defects, particularly in rare cases or specific syndromes like Trisomy 13, Meckel, and Down syndrome.

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Area of Science:

  • Medical Genetics
  • Epidemiology
  • Developmental Biology

Background:

  • Polydactyly is a frequent congenital anomaly characterized by the presence of extra digits.
  • Understanding its association with other congenital anomalies is crucial for diagnosis and genetic counseling.
  • Previous studies have explored polydactyly's associations, but comprehensive epidemiological analysis across different types is needed.

Purpose of the Study:

  • To conduct an epidemiological analysis of polydactyly's association with other congenital anomalies.
  • To categorize polydactyly cases and their associated defects to identify patterns.
  • To investigate the specific associations of different polydactyly types with syndromic and non-syndromic anomalies.

Main Methods:

  • Analysis of 5,927 consecutively born polydactyly cases.

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  • Classification of polydactyly into duplicated fifth digit, duplicated first digit, and rare types.
  • Categorization of associated anomalies into isolated, combined limb defects, syndromic, and multiple congenital anomaly (MCA) groups.

    • Main Results:

    • 14.6% of polydactyly cases had other congenital anomalies.
    • Association rates varied by polydactyly type: postaxial (11.8%), preaxial-I (20.0%), and rare types (54.9%).
    • Trisomy 13, Meckel syndrome, and Down syndrome accounted for most syndromic cases; Down syndrome showed specific associations with first-digit duplication and negative association with postaxial polydactyly.

    Conclusions:

    • Polydactyly is frequently isolated, but associations increase with rare types and specific syndromes.
    • Recognizable syndromes, particularly Trisomy 13, Meckel, and Down syndrome, are key drivers of polydactyly association.
    • Excluding syndromes significantly reduces the observed associations, highlighting the importance of syndromic diagnosis.