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Isolated postaxial polydactyly: Epidemiologic characteristics from a multicenter birth defects study.

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Isolated postaxial polydactyly (I-PAP) is a common limb malformation. This study found males, left limbs, and incomplete extra digits (Type B) are more frequently affected, with prematurity and forceps use also noted.

Keywords:
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Area of Science:

  • Medical Genetics
  • Epidemiology
  • Developmental Biology

Background:

  • Isolated postaxial polydactyly (I-PAP) is a frequent limb malformation with variable global prevalence.
  • Genetic and ethnic factors influence I-PAP prevalence and type.
  • Understanding I-PAP epidemiology is crucial for public health and clinical management.

Purpose of the Study:

  • To describe the epidemiological characteristics of I-PAP in a Mexican population.
  • To analyze I-PAP prevalence stratified by type, sex, limb, laterality, and other factors.
  • To identify novel epidemiological findings and trends in I-PAP.

Main Methods:

  • A multicenter, hospital-based case-control study involving 1,178,993 live births.
  • Analysis of 697 newborns with I-PAP, examining sex, limb, laterality, prematurity, delivery type, and parental age.
  • Stratification of I-PAP into Type A (complete) and Type B (incomplete) extra-digit formation.

Main Results:

  • Males were more frequently affected than females (6.35/10,000 vs. 5.45/10,000).
  • Hands were more commonly affected than feet, and left limbs more than right limbs.
  • Type B (74.50%) was more prevalent than Type A (25.50%); prematurity and forceps use were higher in cases.
  • A decreasing time trend in I-PAP prevalence was observed, with unique ethnic variations in the Mayan population.

Conclusions:

  • I-PAP exhibits distinct epidemiological patterns regarding sex, limb, and type.
  • Prematurity and forceps use are associated risk factors for I-PAP.
  • The study highlights significant ethnic variations in I-PAP prevalence and type, particularly in the Mayan population, and a decreasing prevalence trend.