Berk-Tabatznik syndrome

Short stature, congenital optic atrophy, and hypoplasia of the cervical vertebral bodies and distal phalanges

Also Known As:

Berk Tabatznik syndrome; Cleft nare, brachydactyly, short stature-dwarfism; Congenital optic atrophy and brachytelephalangy; Kyphosis brachyphalangy optic atrophy

Networked: 0 relevant articles (0 outcomes, 0 trials/studies)

Disease Context: Research Results

Signs and Symptoms Pathological Conditions
- Pathologic Processes: 10023
  - Growth Disorders: 2264
    - Berk-Tabatznik syndrome
Musculoskeletal System
- Skeleton
  - Bone and Bones
    - Spine
      - Berk-Tabatznik syndrome
Nervous System Diseases: 14178
- Neurodegenerative Diseases: 42472
  - Nervous System Heredodegenerative Disorders: 63
    - Hereditary Optic Atrophies: 7
      - Berk-Tabatznik syndrome
- Cranial Nerve Diseases: 554
  - Optic Nerve Diseases: 2663
    - Optic Atrophy: 819
      - Hereditary Optic Atrophies: 7
        Berk-Tabatznik syndrome
Eye Diseases: 3522
- Optic Nerve Diseases: 2663
  - Optic Atrophy: 819
    - Hereditary Optic Atrophies: 7
      - Berk-Tabatznik syndrome
- Hereditary Eye Diseases: 18
  - Hereditary Optic Atrophies: 7
    - Berk-Tabatznik syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Congenital Abnormalities: 25723
  - Musculoskeletal Abnormalities: 43
    - Congenital Limb Deformities: 8
      - Brachydactyly: 129
        Berk-Tabatznik syndrome
- Inborn Genetic Diseases: 11939
  - Nervous System Heredodegenerative Disorders: 63
    - Hereditary Optic Atrophies: 7
      - Berk-Tabatznik syndrome
  - Hereditary Eye Diseases: 18
    - Hereditary Optic Atrophies: 7
      - Berk-Tabatznik syndrome
Musculoskeletal Diseases: 719
- Musculoskeletal Abnormalities: 43
  - Congenital Limb Deformities: 8
    - Brachydactyly: 129
      - Berk-Tabatznik syndrome