- Spondylothoracic dysplasia
- Jarcho-Levin syndrome
Your QuestionI have a friend who was diagnosed with Jarcho-Levin syndrome at birth. Is there information available about this condition that might be relevant to an adult?
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The spine and rib abnormalities may cause other complications. Infants with this condition are born with a small chest that cannot expand appropriately. This often leads to life-threatening breathing problems. As the lungs expand, the narrow chest forces the muscle that separates the abdomen from the chest cavity (the diaphragm) down and the abdomen is pushed out. The increased pressure in the abdomen can cause a soft out-pouching around the lower abdomen (inguinal hernia) or belly-button (umbilical hernia).
Most individuals with spondylothoracic dysostosis have normal intelligence and neurological problems are infrequent.
Symptom severity may vary from patient to patient with spondylothoracic dysostosis; however symptoms tend to be the worse for individuals who carry two "E230X" mutations in the MESP2 gene.
Adults with Jarcho-Levin syndrome may also benefit from contacting the following Skeletal Dysplasia Registries which are staffed by experts in the field.
International Skeletal Dysplasia Registry
Medical Genetics Institute
8635 West Third Street, Suite 665
Los Angeles, CA 90048
Web site: http://www.csmc.edu/3805.html
Greenberg Center for Skeletal Dysplasias
Johns Hopkins University
Institute of Genetic Medicine
600 North Wolfe Street
Baltimore, MD 21287
Web site: http://www.hopkinsmedicine.org/geneticmedicine/CR/SKD/index.html
- Spondylothoracic dysostosis. Genetics Home Reference. February 2011; https://ghr.nlm.nih.gov/condition/spondylothoracic-dysostosis.
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- Mark C Lee, MD. Congenital Spinal Deformity. Medscape Reference. February 2015; http://emedicine.medscape.com/article/1260442-overview#a1.
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- Spondylocostal dysostosis, autosomal recessive. Orphanet. February 2005; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=2311.
- María E. Vázquez-Lópeza, María I. López-Condea, Carlos Somoza-Rubioa, Roberto Pérez-Pacína, Ramón Morales-Redondoa, Miguel A. González-Gay. Anomalies of vertebrae and ribs: Jarcho Levin syndrome. Description of a case and literature review. Joint Bone Spine. May 2005; 72(3):275-277. http://www.ncbi.nlm.nih.gov/pubmed/15851003.