Co-occurring anomalies in congenital oral clefts

Am J Med Genet A. 2022 Jun;188(6):1700-1715. doi: 10.1002/ajmg.a.62689. Epub 2022 Feb 18.


Oral clefts (OCs) are frequently co-occurring with other non-OC congenital anomalies. The types and the prevalence of anomalies co-occurring with OCs vary in the reported studies. The aims of this report were to study the types and the prevalence of the anomalies co-occurring with OCs in a well-defined population. The types and the prevalence of anomalies co-occurring in cases with OCs were ascertained in all terminations of pregnancy, stillbirths, and live births in 387,067 births occurring consecutively during the period 1979-2007 in the area covered by our registry of congenital anomalies which is population based, 789 cases of OCs were registered during the study period with a prevalence of 20.4 per 10,000 births, 39.5% of the cases had associated non-OC anomalies. Associated anomalies were more common in cases with cleft palate (52.4%) than in cases with cleft lip and palate (37.3%) and in cases with cleft lip only (16.8%). Chromosomal abnormalities were present in 94 (11.9%) cases including 27 trisomies 13, 15 trisomies 18, 12 22 q11.2 deletion, and 40 other chromosomal abnormalities. Nonchromosomal recognizable conditions were diagnosed in 38 cases (4.8%) including syndromes, associations, spectrums and sequences. Multiple congenital anomalies (MCAs) were present in 180 cases (22.8%). The most frequent MCA were in the musculoskeletal system (16.7%), the central nervous system (15.0%), the urogenital system (13.7%), the cardiovascular system (8.6%), and the digestive system (6.6%). The high prevalence of associated anomalies justifies a thorough screening for other congenital anomalies in cases with OCs.

Keywords: associated anomalies; cleft lip; cleft lip and palate; cleft palate; congenital anomalies; oral clefts.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Abnormalities, Multiple* / epidemiology
  • Abnormalities, Multiple* / genetics
  • Chromosome Aberrations
  • Cleft Lip* / complications
  • Cleft Lip* / epidemiology
  • Cleft Lip* / genetics
  • Cleft Palate* / complications
  • Cleft Palate* / epidemiology
  • Cleft Palate* / genetics
  • Female
  • Heart Defects, Congenital* / complications
  • Heart Defects, Congenital* / epidemiology
  • Heart Defects, Congenital* / genetics
  • Humans
  • Musculoskeletal Diseases*
  • Pregnancy
  • Prevalence
  • Trisomy