Nonsyndromic cleft lip with or without cleft palate (NSCLP) is one of the m
ost common human malformations with an average prevalence of 1 in 1,000 liv
e births, The cause(s) of NSCLP remain unclear as the relative roles of gen
es, of the environment, and/or of chance alone are unknown. The purpose of
this study was to evaluate the potential role of environmental factors in t
he cause of NSCLP, to determine if other birth defects aggregate in familie
s with at least one individual affected with NSCLP, and to investigate the
frequency of cancer in the first- and second-degree relatives of NSCLP inde
x-cases. Included in this study were 196 index-cases and their families, In
formation pertaining to environmental factors and pedigree information was
obtained on each family, Analysis showed that no single environmental facto
r could explain the occurrence of NSCLP in this population The frequency of
other birth defects in these families was 1.2%, which is not increased ove
r that in the general population. One hundred seven cancers were reported i
n 72 of the 196 families included in the study. The frequency of cancer was
not significantly increased in the first- or second-degree relatives of th
e NSCLP index cases or in those families with a positive family history of
NSCLP, No childhood or adult cancers were reported in any of the 196 NSCLP
index cases, Am. J. Med. Genet. 90:17-24, 2000, (C) 2000 Wiley-Liss, Inc.