Congenital stapes fixation, symphalangism and syndactylia.
An autosomal dominant hereditary syndrome is described consisting of congenital deafness, characteristic finger and toe deformities, with absence of the proximal interphalangeal joint together with syndactylia. The syndrome has been observed in 5 members of a Danish family, and the study confirms the autosomal dominant trait.
D000015:Abnormalities, Multiple / Q000235:genetics*; D000293:Adolescent; D000328:Adult; D000368:Aged; D001307:Auditory Perception; D001844:Bone Conduction; D002675:Child, Preschool; D002869:Chromosome Aberrations; D025063:Chromosome Disorders; D003638:Deafness / Q000151:congenital*; D004429:Ear Ossicles / Q000002:abnormalities*; D005260:Female; D005385:Fingers / Q000002:abnormalities*; D005799:Genes, Dominant; D006801:Humans; D008297:Male; D010375:Pedigree; D013199:Stapes / Q000002:abnormalities*; D013576:Syndactyly / Q000235:genetics*; D014034:Toes / Q000002:abnormalities*