The topic Costovertebral Dysplasia you are seeking is a synonym, or alternative name, or is closely related to the medical condition Jarcho-Levin Syndrome.

Quick Summary:

• Jarcho-Levin Syndrome (JLS) is a genetic disorder characterized by abnormalities in the development of bones in the vertebral column and ribs, such that these deformations in the torso, give a characteristic “crab-like” or “fan-like” appearance to the bones. This condition is more prevalent among the Puerto Rican population
• Jarcho-Levin Syndrome is manifested before or after birth, with malformations of the ribcage and spine, a short trunk, short neck, and distinctive facial features. Although the legs and arms are normal in size, the affected individuals have a short stature. The characteristic features of JLS aid in its diagnosis as well
• The skeletal abnormalities can cause improper development and crowding of internal organs, leading to complications such as breathing difficulties, pneumonia, and herni
• Mutations(s) in the DLL3, MESP2, and LFNG genes cause Jarcho-Levin Syndrome. These genes are involved in the regulation of the Notch signaling pathway (a cell signaling system), which regulates boundaries during embryonic development, including the separation of vertebrae from each other
• Treatment for the condition mostly involves providing relief from the symptoms and preventing any complications from developing. The treatment measures may include medications for infections and surgery for bone deformities
• Presently, there are no methods or guidelines to prevent Jarcho-Levin Syndrome from occurring. Genetic counseling may aid prospective parents with a family history of this syndrome, to make suitable informed decisions
• The outcome of Jarcho-Levin Syndrome is determined by the severity of symptoms. Individuals with the disorder may lead healthy lives, if the symptoms are mild. However, if lung abnormalities cause respiratory insufficiency, then the prognosis may be poor. In such cases, the affected children may succumb to the condition

Please find comprehensive information on Jarcho-Levin Syndrome regarding definition, distribution, risk factors, causes, signs & symptoms, diagnosis, complications, treatment, prevention, prognosis, and additional useful information HERE.