Thoracolaryngopelvic dysplasia is a genetic disease. It is also referred to as Barnes Syndrome. Individuals with this disease have great difficulty breathing, and it may look like the individual’s backbone is bulging out. Children with this disease may also have abnormal ribs, pelvic bone, vertebrae, and thorax. Symptoms begin at birth or infancy. Thoracolaryngopelvic dysplasia is a very rare genetic disease. There are fewer than ten documented cases.
Thoracolaryngopelvic dysplasia is an autosomal dominant genetic disease. This means the condition is inherited (passed through families). We inherit our genes in pairs, one from each parent typically. Our genes are what control the growth, development and function of our bodies. If a mistake or error occurs in a gene, it can cause problems. Persons with this disease will need to stay in the hospital for long periods of time. If you have been diagnosed with this disease, speak with your doctor about the best personal plan of action.
Description Last Updated: May 30, 2018