A dominant syndrome of metacarpal and metatarsal asymmetry with tarsal and carpal fusions, syndactyly, articular dysplasia and platyspondyly.
A mother and daughter with metacarpal and metatarsal asymmetry, tarsal and carpal fusions, long bone articular dysplasia and platyspondyly are reported as a possible autosomal dominant syndrome affecting skeletal development. The asymmetry of the second metacarpals is perhaps the most striking finding and resulted in a range of bone lengths in the two individuals from minus 6.3 to plus 3.7 standard deviations from the mean.
D000015:Abnormalities, Multiple / Q000235:genetics; D000328:Adult; D001848:Bone Diseases, Developmental / Q000235:genetics*; D002348:Carpal Bones / Q000002:abnormalities*; D005260:Female; D006801:Humans; D008663:Metacarpus / Q000002:abnormalities*; D008684:Metatarsus / Q000002:abnormalities*; D013131:Spine / Q000002:abnormalities*; D013576:Syndactyly / Q000235:genetics*; D013577:Syndrome; D013639:Tarsal Bones / Q000002:abnormalities*