Jarcho Levin Syndrome Pictures, Symptoms, Causes, Treatment, Life Expectancy
Jarcho and Levin are the names of two different scientists i.e. Saul Jarcho and Paul m. Levin. They described this syndrome and named if after their names. This syndrome is basically the birth defect of skeleton. It mainly involves the deformity of ribs and spine. Due to abnormal formation of ribs, patient may face problem during breathing. Usually babies who are born with Jarcho Levin syndrome, have limited movement of neck because of short length of neck. The stature is short and baby face difficulty in breathing. Due to shorter chest, it looks like crab sitting on body.
Jarcho Levin syndrome is the bone deformity and it mainly involves ribs and vertebrae. The ribs are shorter in size and more looks like crab. Other symptoms include malformation of vertebral column like fused bones. Due to malformation of spinal bones, the spine may be curved outward i.e. kyphosis and if curved inward i.e. lordosis and in side ways i.e. scoliosis. These abnormal spinal bones makes the torso small. The length of neck is small and patient can move his neck in a limited direction. These defects may also affect central nervous system, reproductive system and genitals.
Jarcho Levin syndrome is a genetic disease which occurs due to problem in the genetic makeup of infant. The vertebral bones are deformed by birth. The Jarcho Levin syndrome appears in two main types i.e. spondylocostal dysostosis type 1 and spondylocostal dysostosis type 2. In type 2, not all the vertebral bones are involved. The genes involved in the Jarcho Levin syndrome are MESP2, GDF6, LFNG and DLL3. The specific points on these genes where mutation occurs is also defined i.e. 15q26.1, 8q22.1, 7p22 and 19q13 respectively. Gene mutation is the only cause behind Jarcho Levin syndrome.
Jarcho Levin syndrome is the genetic deformity of bones. Babies born with smaller and malformed chest face problems in breathing. And due this problem may develop respiratory infections like pneumonia. When baby grows, it becomes difficult for him to breathe properly with small sized chest. And baby may not survive more than 2 years. So the treatment involves surgical correction and management to avoid respiratory problems. It is a fatal condition because the bones does not grow with age and does not support the physiology of body. The survival rate is low even after surgical correction.
It is a fatal condition because as the baby grows, the deformed bones does not grow and cause problems in breathing. Usually babies with Jarcho Levin syndrome does not survive more than 2 years (upper limit). There are various cases reported regarding Jarcho Levin syndrome. But patients reported with Jarcho Levin syndrome also explained about the complications they are facing side by side. The survival rate is very low. Even after surgical correction of malformed bones, babies does not usually survive. Mostly deformity in ribs and spinal bones are proved fatal for babies.
Jarcho Levin Syndrome Pictures
Jarcho Levin Syndrome Symptoms
Jarcho Levin syndrome is the bone deformity and it mainly involves ribs and vertebrae. The ribs are shorter in size and more looks like crab. Other symptoms include malformation of vertebral column like fused bones. Due to malformation of spinal bones, the spine may be curved outward i.e. kyphosis and if curved inward i.e. lordosis and in side ways i.e. scoliosis. These abnormal spinal bones makes the torso small. The length of neck is small and patient can move his neck in a limited direction. These defects may also affect central nervous system, reproductive system and genitals.
Jarcho Levin Syndrome Causes
Jarcho Levin syndrome is a genetic disease which occurs due to problem in the genetic makeup of infant. The vertebral bones are deformed by birth. The Jarcho Levin syndrome appears in two main types i.e. spondylocostal dysostosis type 1 and spondylocostal dysostosis type 2. In type 2, not all the vertebral bones are involved. The genes involved in the Jarcho Levin syndrome are MESP2, GDF6, LFNG and DLL3. The specific points on these genes where mutation occurs is also defined i.e. 15q26.1, 8q22.1, 7p22 and 19q13 respectively. Gene mutation is the only cause behind Jarcho Levin syndrome.
Jarcho Levin Syndrome Treatment
Jarcho Levin syndrome is the genetic deformity of bones. Babies born with smaller and malformed chest face problems in breathing. And due this problem may develop respiratory infections like pneumonia. When baby grows, it becomes difficult for him to breathe properly with small sized chest. And baby may not survive more than 2 years. So the treatment involves surgical correction and management to avoid respiratory problems. It is a fatal condition because the bones does not grow with age and does not support the physiology of body. The survival rate is low even after surgical correction.
Jarcho Levin Syndrome Life Expectancy
It is a fatal condition because as the baby grows, the deformed bones does not grow and cause problems in breathing. Usually babies with Jarcho Levin syndrome does not survive more than 2 years (upper limit). There are various cases reported regarding Jarcho Levin syndrome. But patients reported with Jarcho Levin syndrome also explained about the complications they are facing side by side. The survival rate is very low. Even after surgical correction of malformed bones, babies does not usually survive. Mostly deformity in ribs and spinal bones are proved fatal for babies.
Jarcho Levin Syndrome Pictures, Symptoms, Causes, Treatment, Life Expectancy
Reviewed by Simon Albert
on
February 07, 2019
Rating:
Reviewed by Simon Albert
on
February 07, 2019
Rating:
