Data on polydactyly were obtained from two large samples: the Latin America
n Collaborative Study of Congenital Malformations (ECLAMC), and from a migr
ant Northeastern Brazilian population of rural origin (Hospedaria). ECLAMC
is a case-control clinical epidemiological program comprising 10,035 indivi
duals distributed among 2,030 segregating nuclear families, Hospedaria data
consisted of 6,586 examined individuals belonging to 1,040 nuclear familie
s. Using complex segregation analysis methodology we found no evidence of t
wo loci (a major gene and a modifier locus) acting on postaxial polydactyly
in the present study. Very high heritability values (in a classical multif
actorial model) of postaxial polydactyly were detected, for several sets of
analyses in ECLAMC and in Hospedaria, For the whole ECLAMC sample there is
a peculiar suggestion of a major recessive gene effect responsible for the
trait; however, no comparison with a model involving transmission probabil
ities (tau) was possible in this highly heterogeneous sample. If the whole
ECLAMC sample is divided in subsamples, according to Black admixture propor
tions, the same multifactorial picture emerges. Two different inheritance p
atterns were verified for hand (HP) and foot (FP) postaxial polydactyly: Fo
r HP there is evidence of a non-Mendelian transmission mechanism, while for
FP the parental/sib transmission appears to be due only to multifactorial
causes. Am. J, Med, Genet. 80:466-472, 1998, (C) 1998 Wiley-Liss, Inc.