Range and Frequency of Congenital Malformations Among Children With Cleft Lip and/or Palate

K J Fitzsimons1, M J Hamilton2, J van der Meulen3

  • 1Clinical Effectiveness Unit, Royal College of Surgeons of England, London, UK.

Insights

Congenital malformations are frequent in children with cleft lip and palate (CL/P), impacting nearly 40% of cases. Specific cleft types, like cleft palate (CP), show higher rates, necessitating targeted screening and integrated care.

Area of Science:

  • Pediatric Health
  • Medical Genetics
  • Public Health

Background:

  • Cleft lip and/or palate (CL/P) are common birth defects.
  • Additional congenital malformations frequently co-occur with CL/P, impacting long-term health outcomes.
  • Understanding the spectrum and frequency of these co-occurring conditions is crucial for comprehensive patient care.

Purpose of the Study:

  • To determine the range and frequency of additional congenital malformations in live-born infants with CL/P.
  • To analyze the prevalence of these malformations based on specific cleft types.
  • To identify common co-occurring malformation types and affected systems.

Main Methods:

  • Analysis of patient-level data from a national cleft birth registry linked to hospital admission records in England.
  • Inclusion of children born between 2000 and 2012 who received cleft care within the NHS.
  • Assessment of ICD-10 codes for additional congenital malformations and their correlation with cleft type.

Main Results:

  • The study included 9403 children; 38.8% had documented additional congenital malformations.
  • Prevalence varied by cleft type: Cleft palate (CP) at 53.0%, bilateral cleft lip and palate (BCLP) at 33.5%, unilateral cleft lip and palate (UCLP) at 26.3%, and cleft lip with or without alveolus (CL±A) at 22.2%.
  • Skeletal and circulatory system malformations were most common (10.5% and 10.2% respectively); 16.8% had malformations affecting multiple systems.

Conclusions:

  • Congenital malformations are common in children with CL/P, particularly in certain subgroups.
  • Clinicians should consider standardized screening for specific structural malformations based on prevalence data.
  • Enhanced collaboration with pediatric and genetic services is recommended for optimal management.