Cleft Lip and Palate: Association with Other Congenital Malformations

Orofacial clefts are frequently associated with other congenital malformations. Studies vary in incidence and types of anomalies. Objective: To evaluate associated malformations in orofacial cleft patients at a major research hospital. Study Design: Medical records of 1127 patients, in the Cleft Palate / Craniofacial Clinic, Boys Town National Research Hospital, from January 1980 through February 2000 were reviewed. Patients were divided into two categories: 1) cleft palate only (CP), and 2) cleft lip, with or without cleft palate (CL P). Further categorization included location and type, if any, of other congenital malformations. Results: 47.2% of patients had CP and 52.8% had CL+/-P 32.2% of all cleft patients had associated congenital malformations. The orofacial region was the most common site, followed by cardiovascular; central nervous, and skeletal systems. Congenital malformations were more common in CP (38.7%), than CL+/-P (26.4%). Of malformations diagnosed, 63.1% were chromosomal/syndromic anomalies while 36.9% were non-chromosomal/syndromic. Conclusions: Recognition of the spectrum of congenital malformations, associated with orofacial clefting, is essential for further diagnostic testing and in some cases genetic counseling.