Congenital malformation of the feet with low body height. A new syndrome, caused by an autosomal dominant gene.
Among 75 members of a Danish family, 12 were found with a syndrome not previously described. Clinically, the syndrome consists of low body height and rigid flat feet, with weight-bearing pain in the feet. Radiologically, the deformation of the feet is a medial synostosis between the talus and the calcaneus combined with ankle joint dysplasia. The cause of the syndrome is most probably an autosomal dominant gene with complete penetrance. No linkage was found of the gene to 18 marker genes.
D000328:Adult; D000843:Ankle Joint / Q000002:abnormalities; D001827:Body Height; D002111:Calcaneus / Q000002:abnormalities; D005260:Female; D005413:Flatfoot / Q000000981:diagnostic imaging / Q000235:genetics*; D005528:Foot / Q000000981:diagnostic imaging; D005532:Foot Deformities, Congenital; D005799:Genes, Dominant; D006801:Humans; D008297:Male; D010375:Pedigree; D011859:Radiography; D013577:Syndrome; D013580:Synostosis / Q000000981:diagnostic imaging / Q000235:genetics*; D013628:Talus / Q000002:abnormalities