- Jarcho-Levin syndrome
- Spondylothoracic dysplasia
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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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.
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.
- 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.
- 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.