Distal symphalangism with involvement of the thumbs and great toes.
A family is presented in which five individuals in four generations have shown variable expression of distal symphalangism in hands and feet. The mode of inheritance is autosomal dominant. Two individuals show involvement of the thumbs and halluces; this has not been noted previously in true distal symphalangism.
Matthews
S
S
Department of Child Health, Leicester Royal Infirmary, UK.
Farnish
S
S
Young
I D
ID
D000844:Ankylosis / Q000235:genetics*; D005260:Female; D006801:Humans; D007223:Infant; D010375:Pedigree; D011859:Radiography; D013933:Thumb / Q000002:abnormalities* / Q000000981:diagnostic imaging; D014034:Toes / Q000002:abnormalities* / Q000000981:diagnostic imaging; D014427:Twins