THE GENE FOR THE ELLIS-VANCREVELD-SYNDROME IS LOCATED ON CHROMOSOME-4P16

Ellis-van Creveld syndrome (EVC) is an autosomal recessive disorder ch aracterized by disproportionate dwarfism, polydactyly, and congenital heart disease. This rare disorder is found with increased frequency am ong the Old Order Amish community in Lancaster County, Pennsylvania. W e have used linkage analysis to localize the gene responsible for the EVC phenotype in nine interrelated Amish pedigrees and three unrelated families from Mexico, Ecuador, and Brazil, We now report the linkage for the Ellis-van Creveld syndrome gene to markers on the distal short arm of human chromosome 4, with Z(max) = 6.91 at theta = 0.02 for mar ker HOX7, in a region proximal to the FGFR3 gene responsible for the a chondroplasia phenotype. (C) 1996 Academic Press, Inc.