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

Musculoskeletal System
- Skeleton
  - Bone and Bones
    - Bones of Lower Extremity
      - Foot Bones
        Tarsal Bones
        NOG-Related-Symphalangism Spectrum Disorder
    - Bones of Upper Extremity
      - Hand Bones
        Carpal Bones
        NOG-Related-Symphalangism Spectrum Disorder
Musculoskeletal Diseases: 751
- Bone Diseases: 5970
  - Developmental Bone Diseases: 156
    - Dysostoses: 94
      - Synostosis: 807
        NOG-Related-Symphalangism Spectrum Disorder
- Foot Deformities: 466
  - Congenital Foot Deformities: 7
    - NOG-Related-Symphalangism Spectrum Disorder
- Hand Deformities: 72
  - Congenital Hand Deformities: 2
    - NOG-Related-Symphalangism Spectrum Disorder
- Musculoskeletal Abnormalities: 46
  - Synostosis: 807
    - NOG-Related-Symphalangism Spectrum Disorder
  - Congenital Limb Deformities: 8
    - Congenital Lower Extremity Deformities
      - Congenital Foot Deformities: 7
        NOG-Related-Symphalangism Spectrum Disorder
    - Congenital Upper Extremity Deformities
      - Congenital Hand Deformities: 2
        NOG-Related-Symphalangism Spectrum Disorder
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 960
- Congenital Abnormalities: 26404
  - Musculoskeletal Abnormalities: 46
    - Synostosis: 807
      - NOG-Related-Symphalangism Spectrum Disorder
    - Congenital Limb Deformities: 8
      - Congenital Lower Extremity Deformities
        Congenital Foot Deformities: 7
        NOG-Related-Symphalangism Spectrum Disorder
      - Congenital Upper Extremity Deformities
        Congenital Hand Deformities: 2
        NOG-Related-Symphalangism Spectrum Disorder
Sense Organs
- Ear
  - Middle Ear
    - Ear Ossicles
      - Stapes
        NOG-Related-Symphalangism Spectrum Disorder

Stapes

Context: Research Results