- Jarcho-Levin syndrome
- Spondylothoracic dysplasia
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 shortened spine and rib cage anomalies can cause serious breathing problems and recurring lung infections. These complications result in a 32% death rate in early childhood.
Other complications of spondylothoracic dysostosis, include shortened stature (due to the spine and vertebral defects) and limited neck motion. Symptom and symptom severity may vary from patient to patient, however symptoms tend to be the worse for children who carry two "E230X" mutations in the MESP2 gene.
Most patients with spondylothoracic dysostosis have normal intelligence and neurological problems are infrequent.
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
- Jarcho Levin Syndrome. National Organization for Rare Disorders. 2005; http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Jarcho-Levin%20Syndrome. Accessed 6/25/2009.
- 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.
- Spondylocostal dysostosis, autosomal recessive 1; SCDO1. Online Mendelian Inheritance in Man. 2005; http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=277300. Accessed 6/25/2009.
- 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. Accessed 6/25/2009.