![]() ![]() Pulmonary hypertension is a chronic and, if not treated, life-threatening complication. Some children may develop high blood pressure of the pulmonary artery, which is the main artery that delivers blood to the lungs (pulmonary hypertension). Breathing problems are usually mild or moderate, but sometimes can become life-threatening and be fatal. Consequently, they can have difficulties breathing and experience repeated respiratory infections. Affected infants and children cannot expand their chests sufficiently with causes reduced lung capacity, which means the lungs can hold less air than they normally would. This is known as thoracic insufficiency syndrome. Scoliosis usually does not get worse, but should be carefully followed with spine x-raysīecause of the malformation of the spine and ribs, the lungs of affected individuals may not be able to grow and develop properly. Scoliosis is usually mild, but, in rare instances, can be severe. Some individuals have abnormal sideways curvature of the spine, a condition called scoliosis. Affected individuals may have a short neck with limited mobility. In addition, affected individuals may be shorter than would otherwise be expected for their age and gender (short stature). The trunk, which is the part of the body that extends from the neck to the abdomen, may be disproportionately smaller in comparison to their height. Boys have an increased risk of developing inguinal hernia, a condition characterized by protrusion of parts of the large intestine through an opening in the abdominal wall near the groin. The ribs may be fused together, misaligned, broadened, split or forked (bifid), and sometimes some of the ribs are missing. Multiple vertebrae are always affected, usually at least 10 segments in a row (contiguously). Sometimes, they are underdeveloped and wedge-shaped (hemivertebrae). The bones of the spine (vertebrae) may be fused together or misshapen. Affected individuals have abnormalities in the development of the spine and ribs. The signs and symptoms of spondylocostal dysplasia can vary greatly from one person to another, even among members of the same family. Jarcho and Levin were two doctors who first described what is now known as spondylothoracic dysplasia in the medical literature in 1938. Other researchers believe the widespread, inconsistent use of Jarcho-Levin syndrome has rendered the term obsolete and that its use should be discontinued. Some researchers have advocated that Jarcho-Levin syndrome be reserved for people with spondylocostal dysplasia. This has led to confusion for individuals and families who receive a diagnosis of Jarcho-Levin syndrome. The term Jarcho-Levin syndrome is still used for both disorders, and sometimes it is used as an “umbrella” term to describe a broad range of conditions associated with spinal and rib defects. Researchers now know that these disorders are separate entities with different causes and associated malformations. For years, this disorder and a similar disorder, spondylothoracic dysplasia, were considered the same disorder and referred to as Jarcho-Levin syndrome. There is significant confusion in the medical literature regarding names for spondylocostal dysplasia. With treatment, most individuals survive well into adulthood. Many individuals do not have a mutation in any of these genes. One gene, TBX6, is known to cause autosomal dominant spondylocostal dysplasia. Rarely, spondylocostal dysplasia can be inherited in an autosomal dominant manner. Most times, spondylocostal dysplasia is inherited in an autosomal recessive manner and is caused by a change (mutation) in one of four genes, DL元, MESP2, LFNG, HES7. Sometimes, breathing difficulties can be severe and life-threatening. ![]() ![]() The thorax is the middle portion of the body extending from the neck to the abdomen and including the chest cavity. Some infants may have difficulty breathing because of a reduced size of the thorax. The severity and specific symptoms can vary among affected individuals, even among members of the same family. These malformations are present at birth (congenital). Ribs can be fused or missing in chaotic patterns. Spondylocostal dysplasia is a rare genetic disorder characterized by defects of the bones of the spine (vertebrae) and abnormalities of the ribs. 5 Myths About Orphan Drugs and the Orphan Drug Act.Information on Clinical Trials and Research Studies. ![]()
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