Abstract
BackgroundOver the years, great efforts have been made to record the frequency of orofacial clefts in different populations. However, very few studies were able to account for the etiological and phenotypic heterogeneity of these conditions. Thus, data of cases with syndromic orofacial clefts from large population-based studies are infrequent.MethodsClinically 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.ResultsOf 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.ConclusionSurveillance 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.
Highlights
Over the years, great efforts have been made to record the frequency of orofacial clefts in different populations
The objective of this paper is to describe the cases with OCs and associated anomalies identified in a large population-based birth defects registry in Hungary
Most cases were notified by obstetricians, since in Hungary virtually all deliveries occur in inpatient obstetric clinics, or from pediatricians who were working in the neonatal units of inpatient obstetric clinics and various inpatient and outpatient pediatric clinics
Summary
Great efforts have been made to record the frequency of orofacial clefts in different populations. Data of cases with syndromic orofacial clefts from large population-based studies are infrequent. 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]. 2. The delineation of an MCA-entity facilitates a better understanding of the phenotypic spectrum, prognosis, and origin of the condition. The delineation of an MCA-entity facilitates a better understanding of the phenotypic spectrum, prognosis, and origin of the condition The latter may be of great importance in genetic counseling or to detect new teratogenic agents
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