Jarcho-Levin Syndrome is a rare genetic disorder characterized by abnormal development of the bones and cartilage in the spine and ribs. It is also known as spondylothoracic dysplasia. This condition affects the skeletal system, leading to various physical abnormalities.
Individuals with Jarcho-Levin Syndrome typically have a short, curved spine (scoliosis) and a narrow rib cage, which can cause breathing difficulties. The severity of symptoms can vary widely, ranging from mild to severe. Some individuals may also have additional skeletal abnormalities, such as fused ribs or missing vertebrae.
Due to the impact on the respiratory system, individuals with Jarcho-Levin Syndrome may experience respiratory complications and require medical intervention. Treatment options are focused on managing symptoms and may include bracing, surgery, and respiratory support.
As a rare genetic disorder, Jarcho-Levin Syndrome is inherited in an autosomal recessive manner, meaning that both parents must carry a mutated gene for their child to be affected. Genetic counseling can be beneficial for families affected by this condition.