MeSH Browser

MeSH Supplementary: NOG-Related-Symphalangism Spectrum Disorder
Unique ID: C536943
RDF Unique Identifier: http://id.nlm.nih.gov/mesh/C536943
Entry Term(s): 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
Registry Number: 0
Heading Mapped to: Carpal Bones / *abnormalities; *Foot Deformities, Congenital; *Hand Deformities, Congenital; Stapes / *abnormalities; *Synostosis; Tarsal Bones / *abnormalities
Frequency: 28
Note: 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.
Date of Entry: 2010/08/25
Revision Date: 2019/04/01

Multiple synostoses syndrome 1 Related

Deafness-symphalangism syndrome of Herrmann Related

Brachydactyly, Type B2 Related

Stapes Ankylosis With Broad Thumb And Toes Related

NOG-Related-Symphalangism Spectrum Disorder MeSH Supplementary Concept Data 2024