Spondylothoracic dysplasia
Spondylothoracic Dysplasia[edit | edit source]
Spondylothoracic dysplasia (STD), also known as Jarcho-Levin syndrome, is a rare genetic disorder characterized by malformations of the vertebrae and ribs, leading to a distinctive "crab-like" appearance of the thorax. This condition is part of a group of disorders known as vertebral segmentation defects.
Clinical Features[edit | edit source]
Individuals with spondylothoracic dysplasia typically present with:
- Short stature
- Short neck
- Thoracic insufficiency syndrome due to rib and spine malformations
- Respiratory difficulties
- Scoliosis
Genetics[edit | edit source]
Spondylothoracic dysplasia is primarily inherited in an autosomal recessive manner. Mutations in the MESP2 gene have been implicated in the pathogenesis of this disorder. The MESP2 gene is crucial for the proper segmentation of the vertebrae during embryonic development.
Diagnosis[edit | edit source]
Diagnosis of spondylothoracic dysplasia is based on:
- Clinical examination
- Radiographic imaging showing the characteristic "crab-like" thorax
- Genetic testing to identify mutations in the MESP2 gene
Management[edit | edit source]
Management of spondylothoracic dysplasia is supportive and may include:
- Respiratory support, such as ventilation
- Surgical interventions to correct spinal deformities
- Physical therapy to improve mobility
Prognosis[edit | edit source]
The prognosis for individuals with spondylothoracic dysplasia varies. Respiratory complications are a significant concern and can impact life expectancy. Early intervention and supportive care can improve quality of life.
Research and Future Directions[edit | edit source]
Ongoing research aims to better understand the genetic mechanisms underlying spondylothoracic dysplasia and to develop targeted therapies. Advances in gene therapy and regenerative medicine hold promise for future treatment options.
See Also[edit | edit source]
NIH genetic and rare disease info[edit source]
Spondylothoracic dysplasia is a rare disease.
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