Jarcho-Levin syndrome

A heterogeneous group of autosomal recessive axial skeletal disorders characterized by multiple segmentation defects of the VERTEBRAE (SDV), malalignment of the ribs with variable points of intercostal fusion, and often a reduction in rib number. Rib abnormalities may cause increased pressure in the THORAX, leading to diaphragmatic hernia. Mutations in the DLL3 gene have been identified. OMIM: 277300

Also Known As:

Costovertebral dysplasia; SCDO1 Spondylocostal dysostosis 1; Spondylocostal Dysostosis 1, Autosomal Recessive; Spondylocostal dysostosis; Spondylothoracic Dysostosis; Spondylothoracic Dysplasia

Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 960
- Congenital Abnormalities: 26404
  - Multiple Abnormalities: 213
    - Jarcho-Levin syndrome: 27
Signs and Symptoms Pathological Conditions
- Anatomical Pathological Conditions
  - Hernia: 7811
    - Internal Hernia: 515
      - Diaphragmatic Hernia: 749
        Jarcho-Levin syndrome: 27

Christine Yao Selected Research

Christine Yao Research Topics

Disease

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Therapy/Procedure