Diseases & Conditions


A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

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: info@esdn.org
    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: gardinfo@nih.gov
    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: mums@netnet.net
    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: getinfo@madisonsfoundation.org
    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