Spondylocostal dysostosis

Spondylocostal dysostosis (pronunciation: spon-dy-lo-cos-tal dis-os-to-sis) is a rare genetic disorder characterized by abnormal development of the spine and ribs.

Etymology

The term "Spondylocostal dysostosis" is derived from three Greek words: "spondylos" meaning vertebra, "kostos" meaning rib, and "dysostosis" meaning abnormal bone formation.

Definition

Spondylocostal dysostosis is a congenital disorder that affects the development of the spine and ribs. Individuals with this condition have numerous malformations of the vertebrae and ribs, including fused, misshapen, and missing vertebrae or ribs. This can lead to a short neck and trunk, as well as abnormalities in the chest area that can affect respiratory function.

Symptoms

The symptoms of Spondylocostal dysostosis can vary greatly from person to person. However, common symptoms include:

• Short neck and trunk
• Abnormalities in the chest area
• Difficulty breathing
• Scoliosis (abnormal curvature of the spine)

Causes

Spondylocostal dysostosis is a genetic disorder, meaning it is caused by mutations in certain genes. These mutations can be inherited from one or both parents. The genes involved in this condition play a role in the development of the spine and ribs during embryonic development.

Diagnosis

Diagnosis of Spondylocostal dysostosis is typically made through a combination of physical examination, medical history, and imaging studies such as X-rays or CT scans. Genetic testing may also be used to confirm the diagnosis and identify the specific gene mutation(s) causing the condition.

Treatment

There is currently no cure for Spondylocostal dysostosis. Treatment is focused on managing symptoms and improving quality of life. This may include physical therapy, surgery to correct spinal deformities, and respiratory support in severe cases.

Related Terms

• Vertebrae
• Ribs
• Genetic disorder
• Scoliosis
• Congenital disorder

External links

• Medical encyclopedia article on Spondylocostal dysostosis
• Wikipedia's article - Spondylocostal dysostosis

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