- Spondylothoracic dysplasia
- Jarcho-Levin syndrome
Your QuestionMy nephew has been diagnosed with Jarcho-Levin syndrome. Do you have information on this condition that I could share with my family?
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Questions on this page
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.
Genetics clinics are a source of information for individuals and families regarding genetic conditions, treatment, inheritance, and genetic risks to other family members. More information about genetic consultations is available from Genetics Home Reference. To find a genetics clinic, we recommend that you contact your primary healthcare provider for a referral.
The following online resources can help you find a genetics professional in your community:
- The National Society of Genetic Counselors provides a searchable directory of US and international genetic counseling services.
- The American College of Medical Genetics has a searchable database of US genetics clinics.
- The University of Kansas Medical Center provides a list of US and international genetic centers, clinics, and departments.
- The American Society of Human Genetics maintains a database of its members, which includes individuals who live outside of the United States. Visit the link to obtain a list of the geneticists in your country, some of whom may be researchers that do not provide medical care.
- Cornier AS, Staehling-Hampton K, Delventhal KM, Saga Y, Caubet JF, Sasaki N, Ellard S, Young E, Ramirez N, Carlo SE, Torres J, Emans JB, Turnpenny PD, Pourquié O. Mutations in the MESP2 gene cause spondylothoracic dysostosis/Jarcho-Levin syndrome. Am J Hum Genet. 2008; http://www.ncbi.nlm.nih.gov/pubmed/18485326.
- Spondylothoracic dysostosis. Genetics Home Reference. February 2011; https://ghr.nlm.nih.gov/condition/spondylothoracic-dysostosis.
- Turnpenny PD, Young E. Spondylocostal Dysostosis, Autosomal Recessive. GeneReviews. January 2013; http://www.ncbi.nlm.nih.gov/books/NBK8828/.
- Mark C Lee, MD. Congenital Spinal Deformity. Medscape Reference. February 2015; http://emedicine.medscape.com/article/1260442-overview#a1.
- Cornier AS, Staehling-Hampton K, Delventhal KM, Saga Y, Caubet JF, Sasaki N, Ellard S, Young E, Ramirez N, Carlo SE, Torres J, Emans JB, Turnpenny PD, Pourquié O. Mutations in the MESP2 gene cause spondylothoracic dysostosis/Jarcho-Levin syndrome. Am J Hum Genet. June 2008; 82(6):1334-1341.
- spondylothoracic dysostosis. Genetics Home Reference. February 2011; https://ghr.nlm.nih.gov/condition/spondylothoracic-dysostosis.
- Kulkarni ML, Navaz SR, Vani HN, Manjunath KS, Matani D. Indian J Pediatr. 2006; http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=16567923%5Buid%5D. Accessed 6/25/2009.
- 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.