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Related Experiment Videos

Hand and foot postaxial polydactyly: two different traits

E E Castilla1, M da Graca Dutra, R Lugarinho da Fonseca

  • 1ECLAMC (Latin-American Collaborative Study of Congenital Malformations, WHO Collaborating Centre for the Prevention of Birth Defects) at Instituto Oswaldo Cruz, Fundação Oswaldo Cruz, Rio de Janeiro, Brazil.

American Journal of Medical Genetics
|January 31, 1998
PubMed
Summary

Postaxial polydactyly (PP) of the hand (HPP) and foot (FPP) are distinct conditions. HPP is linked to genetic factors and African ancestry, while FPP is associated with Amerindian background and pregnancy complications.

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Area of Science:

  • Medical Genetics
  • Epidemiology
  • Congenital Malformations

Background:

  • Postaxial polydactyly (PP) is a common congenital anomaly.
  • Understanding variations in PP, such as hand (HPP) versus foot (FPP) involvement, is crucial for accurate diagnosis and genetic counseling.
  • Previous studies have not fully elucidated the distinct clinical and epidemiological characteristics of HPP and FPP.

Purpose of the Study:

  • To investigate whether postaxial hexadactyly presents different clinical and epidemiological features based on hand or foot involvement.
  • To differentiate between hand postaxial polydactyly (HPP) and foot postaxial polydactyly (FPP) as distinct entities.

Main Methods:

  • Analysis of data from the Latin-American Collaborative Study of Congenital Malformations (ECLAMC) from 1967 to 1993.

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  • Inclusion of 1,582,289 births and 2,271 cases of isolated postaxial polydactyly (5th-digit hexadactyly).
  • Statistical analysis, including logistic regression, to identify associated factors for HPP, FPP, and both (BPP).

    • Main Results:

    • Prevalence of isolated PP was 14.3/10,000 births, with HPP being most frequent (76.3%), followed by FPP (15.5%) and BPP (8.2%).
    • HPP showed higher rates of bilaterality, left-sided preference, African Black ethnicity, male sex, twinning, low maternal education, parental consanguinity, and familial recurrence.
    • FPP was associated with Amerindian background, parental subfertility, and first-trimester bleeding; BPP had the highest rate of associated defects.

    Conclusions:

    • Hand postaxial polydactyly (HPP) and foot postaxial polydactyly (FPP) represent distinct entities with differing epidemiological and clinical profiles.
    • HPP appears to have a stronger genetic component compared to FPP.
    • These findings support the need for individualized approaches in the diagnosis and management of different forms of postaxial polydactyly.