What is Jarcho-Levin Syndrome?
Jarcho-Levin Syndrome is an autosomal recessive genetic disorder and is hence, a condition present by birth. It causes the malformation of vertebral bones and ribs. Children suffering from Jarcho-Levin Syndrome cannot move their necks properly. They might have small, crab-like chest which leads to difficulty in breathing. There are two forms of Jarcho-Levin Syndrome:
- Spondylocostal Dysostosis type 1
- Spondylocostal Dysostosis type 2
Spondylocostal Dysostosis type 2 is milder than Spondylocostal Dysostosis type 1 as not all parts of vertebrae are affected. Jarcho-Levin Syndrome is a very rare disorder. Both male and female are affected by this syndrome. The abnormality occurs at all levels of vertebrae.
Symptoms of Jarcho-Levin Syndrome
Some of the common symptoms of Jarcho-Levin Syndrome are:
- Malformations of bones in the spine
- Curved spine because of malformed bones which leads to kyphosis, lordosis or scoliosis
- Short Stature
- Distinct facial features
- Crab-like chest because of the malformed ribs
- The neck has limited movement
- This may affect other body parts like brain, heart, reproductive organs
- There are chances of pneumonia due to the small chest cavity
- Breathing problems
- Abnormality in fingers
- Blockage of the bladder, which leads to swollen pelvis and stomach.
The main symptom of Jarcho-Levin Syndrome is a malformed skeleton which majorly includes deformations of ribs and spinal cord. Also, there can be malformations in the skull.
Causes of Jarcho-Levin Syndrome
Jarcho-Levin Syndrome is caused because of the alterations in genes. These gene abnormalities are passed down from parent to children, that is, this is a hereditary disorder. Most commonly, alteration in the DLL3 gene leads to the Jarcho-Levin Syndrome. However, some people with Jarcho-Levin Syndrome do not show any gene mutations. The genes which are altered during Jarcho-Levin Syndrome contain the instructions to produce a protein which are necessary for the development of ribs and spine. When the gene is altered, the protein becomes inefficient or not sufficient leading to the abnormalities in the rib cage and spinal cord.
Diagnosis of Jarcho-Levin Syndrome
Jarcho-Levin Syndrome is diagnosed soon after the birth by looking for any malformations in the appearance of the infant’s skeleton including the ribs, spine, chest, and skull. X-rays are used to do the same. Ultrasound of the embryo or fetus may also reveal the malformations in the bones. An ultrasound test uses high-frequency sound waves to create an image of the fetus. No genetic test can reveal the mutations in the genes in Jarcho-Levin Syndrome.
Prognosis of Jarcho-Levin Syndrome
The prognosis is very poor for Jarcho-Levin Syndrome. Around 81% of the infants die early because of respiratory complications like breathing problems, respiratory infections because of the small chest cavity. Infants who do not show critical abnormalities can lead a healthy life.
Treatment for Jarcho-Levin Syndrome
Treatment of Jarcho-Levin Syndrome depends on the symptoms present by an individual as every patient shows different symptoms. Coordination between different specialists and a multidisciplinary approach is required. As the infant has a small chest cavity which leads to breathing problems and respiratory infections, the treatment includes treating the infections and bone surgeries. Infants with breathing problems can be given external support like a machine to help them breathe properly. Bone surgery is for the shape of the spine, which is done only if the case is severe. The vertical expandable prosthetic titanium rib (VEPTR) is implanted inside the patient’s body to straighten the spinal cord and expand the rings so that the chest cavity is increased and chances of infections and breathing problems are minimized.
Jarcho-Levin Syndrome is a rare genetic disorder which includes the abnormalities in the rib cage and the spinal cord. Due to this, infants may have a very small chest cavity and thus suffer through lung infections and breathing problems. This can lead to early deaths of the infants. Jarcho-Levin Syndrome has no cure but symptomatic treatment can be done using some surgeries and medications.
- Chandra, N., Kumar, S., Raj, V., Vishwakarma, P., Sinha, S. and Saha, R. Jarcho-Levin Syndrome with Splenic Herniation: A Rare Presentation. American Journal of Case Reports, (2016). pp.745-748.
- Thatte, M., Gangurde, B., Raut, B. and Mehta, R. The outcome of Jarcho-Levin syndrome treated with a functional latissimus dorsi flap – A series of three cases. Indian Journal of Plastic Surgery, (2012). p.40.