NOG-Related-Symphalangism Spectrum Disorder
A hereditary condition characterized by fusion of the carpal bones, tarsal bones, and finger and toe bones (phalanges). Stiffness of the interphalangeal joint of the fifth digit is evident at birth even without synostosis; the joints then progressively fuse over time on digit 5, and proceeds sequentially to digits 4,3, and 2. NOG-related-symphalangism spectrum disorder (OMIM: 186570); Brachydactyly, Type B2 (OMIM: 611377); Multiple synostoses syndrome 1 (OMIM: 186500); and Stapes Ankylosis with broad thumb and toes (OMIM: 184460) are caused by mutations in the noggin (NOG) gene.
Also Known As:
Ankylosis Of Stapes, Hyperopia, Broad Thumbs, Broad First Toes, And Syndactyly; Brachydactyly, Type B2; Deafness-symphalangism syndrome of Herrmann; Facioaudiosymphalangism syndrome; Multiple synostoses syndrome 1; Stapes Ankylosis Syndrome Without Symphalangism; Stapes Ankylosis With Broad Thumb And Toes; Symphalangism-brachydactyly syndrome; Synostoses, multiple, with brachydactyly; Tarsal carpal coalition syndrome; Tarsal-Carpal Coalition Syndrome; Teunissen-Cremers Syndrome
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