Oral clefts with associated anomalies: findings in the Hungarian Congenital Abnormality Registry

Clinically recognized and notified syndromes and associations including cleft lip with or without cleft palate and other congenital anomalies were selected from the Hungarian Congenital Abnormality Registry (HCAR) between 1973 and 1982 and prevalence rates were calculated.Of 3,110 cases reported as having orofacial clefts, 653 had multiple congenital abnormalities. Of these, 60 (9.2%) had a known etiology (monogenic: 25 or 3.8%, chromosomal: 31 or 4.7%, teratogenic: 4 or 0.6%). Seventy-three subjects (11.2%) had schisis in addition to the oral cleft. Skeletal anomalies were the most common malformations among cases with cleft lip with/without cleft palate (CL/P) and cleft palate (CP). Disorders of the central nervous system and cardiovascular malformations were also frequently associated.Surveillance systems, such as the HCAR, provide useful information about prevalence rates of congenital anomalies in a population. However, in a field where new syndromes are being discovered and classifications regularly updated, these rates should only be accepted as provisional.It has been known for more than 80 years that cleft lip with or without cleft palate (CL/P) and isolated cleft palate (CP), collectively termed oral clefts (OCs), are frequently associated with congenital anomalies [1]. The prevalence of associated anomalies in subjects with OCs varies widely, ranging from 6% to 63%; however, when broken down by subtype, it is clear that they are much more frequent in patients with isolated CP (13–50%) than in patients with cleft lip (CL) (7%-13%) or patients with cleft lip and palate (CLP) (2%-26%) [1-7]. The sources of variation have been recently described by Wyszynski et al. [1] as 1) differences in case definition and inclusion/exclusion criteria, 2) how long after birth cases are examined, 3) variability of clinical expression of associated anomalies, 4) knowledge and technology available to produce syndrome delineation, 5) selection of patients, sources of ascertain