Structural birth defects associated with oral clefts in Hawaii, 1986 to 2001

Mathias B Forrester1, Ruth D Merz

  • 1Hawaii Birth Defects Program, Honolulu, Hawaii 96817-5157, USA.

Insights

This study identified specific birth defects associated with oral clefts. Encephalocele, microcephaly, and syndactyly were linked to cleft palate, while limb and eye defects were associated with cleft lip.

Area of Science:

  • Medical Genetics
  • Developmental Biology
  • Pediatric Surgery

Background:

  • Oral clefts, including cleft palate and cleft lip, are common congenital anomalies.
  • Understanding associated structural birth defects is crucial for comprehensive patient care and genetic counseling.

Purpose of the Study:

  • To investigate the co-occurrence of specific structural birth defects with various types of oral clefts.
  • To determine if certain birth defects are disproportionately represented in infants with oral clefts.

Main Methods:

  • Analysis of data from a birth defects registry (1986-2001).
  • Comparison of rates for 47 structural birth defects in oral cleft cases versus non-oral cleft major birth defect cases.
  • Stratification of analysis by cleft palate only and cleft lip with or without cleft palate.

Main Results:

  • Cleft palate only cases showed significantly higher rates of encephalocele, microcephaly, and syndactyly.
  • Cleft lip with or without cleft palate cases had higher rates of anophthalmia/microphthalmia, single ventricle, and limb reduction deformities.
  • 81% of defects exhibited similar association patterns across both oral cleft categories.

Conclusions:

  • Specific structural birth defects are more common in infants with oral clefts than expected by chance.
  • The patterns of association for most defects were consistent between cleft palate alone and cleft lip with or without cleft palate.
Abstract