Hereditary brachydactyly with nail dysplasia.
A family is described in which sometimes asymmetrical brachydactyly, with nail dysplasia of the involved fingers, has been transmitted through 6 generations affecting 6 males and 15 females. The thumbs and feet have been normal. This previously unreported condition is inherited as an autosomal disorder with full penetrance and variable expressivity, and causes only minor inconvenience.
D000328:Adult; D000368:Aged; D002675:Child, Preschool; D005260:Female; D005385:Fingers / Q000002:abnormalities* / Q000000981:diagnostic imaging; D005799:Genes, Dominant; D006801:Humans; D008297:Male; D008875:Middle Aged; D009264:Nails, Malformed; D010375:Pedigree; D010641:Phenotype; D011859:Radiography; D013577:Syndrome