Symphalangism with multiple anomalies of the hands and feet: a new genetic trait.
We report a new autosomal dominant condition involving hands and feet of an Arabic father and 5 of his 11 children. This trait is characterized by symphalangism, syndactyly, brachydactyly type D, clinodactyly, and hypoplasia of the thenar and hypothenar eminences. Affected persons had symphalangism and syndactyly plus some or all or part of the other anomalies. Symphalangism, the main defect in this syndrome, showed variable expressivity. A distinct dermatoglyphic pattern was observed in all affected relatives. Linkage studies were done; however, no linkage was demonstrated.
D000328:Adult; D002675:Child, Preschool; D002869:Chromosome Aberrations; D025063:Chromosome Disorders; D005260:Female; D005528:Foot / Q000000981:diagnostic imaging; D005532:Foot Deformities, Congenital; D008040:Genetic Linkage; D006225:Hand / Q000000981:diagnostic imaging; D006228:Hand Deformities, Congenital; D006801:Humans; D008297:Male; D010375:Pedigree; D011859:Radiography; D013576:Syndactyly / Q000235:genetics; D013577:Syndrome