Jarcho-Levin Syndrome / Disease

Diseases & Conditions

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Jarcho-Levin Syndrome

Synonyms of Jarcho-Levin Syndrome

costovertebral segmentation anomalies
spondylocostal dysostosis
spondylocostal dysplasia
spondylothoracic dysostosis
spondylothoracic dysplasia

Disorder Subdivisions

SCDO1
SCDO2

General Discussion
Jarcho-Levin syndrome is a rare genetic disorder characterized by distinctive malformations of bones of the spinal column (vertebrae) and the ribs, respiratory insufficiency, and/or other abnormalities. Infants born with Jarcho-Levin syndrome have short necks, limited neck motion due to abnormalities of the cervical vertebrae and short stature.

In most cases, infants with Jarcho-Levin syndrome experience respiratory insufficiency and are prone to repeated respiratory infections (pneumonia) that result in life-threatening complications. The vertebrae are fused and the ribs fail to develop properly, therefore, the chest cavity is too small to accommodate the growing lungs.

There are apparently two forms of Jarcho-Levin Syndrome that are inherited as autosomal recessive genetic traits and termed spondylocostal dysostosis type 1 (SCDO1) and spondylocostal dyostosis type 2 (SCDO2).
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Organizations related to Jarcho-Levin Syndrome

European Skeletal Dysplasia Network (ESDN)
Wellcome Trust Centre for Cell-Matrix Research
Manchester None M13 9PT
Phone #: 44 -161- 275 5642
800 #: N/A
e-mail: [email protected]
Home page: http://www.esdn.org
Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg MD 20898-8126
Phone #: 301-519-3194
800 #: 888-205-2311
e-mail: [email protected]
Home page: http://www.genome.gov/10000409
MUMS (Mothers United for Moral Support, Inc) National Parent-to-Parent Network
150 Custer Court
Green Bay WI 54301-1243
Phone #: 920-336-5333
800 #: 877-336-5333
e-mail: [email protected]
Home page: http://www.netnet.net/mums/
Madisons Foundation
PO Box 241956
Los Angeles CA 90024
Phone #: 310-264-0826
800 #: N/A
e-mail: [email protected]
Home page: http://www.madisonsfoundation.org
Restricted Growth Association
P.O. Box 4744
Dorset Intl DT2 9FA
Phone #: 013-08 -898445
800 #: --
e-mail: N/A
Home page: http://www.restrictedgrowth.co.uk

For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders, Inc. ? (NORD). A copy of the complete report can be obtained for a small fee by visiting the NORD website. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational treatments (if available), and references from medical literature. For a full-text version of this topic, see http://www.rarediseases.org/search/rdblist.html