National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Spondylocostal dysostosis


Other Names:
Costovertebral dysplasia; SCDO
Subtypes:
Spondylocostal dysostosis 1; Spondylocostal dysostosis 2; Spondylocostal dysostosis 3; Spondylocostal dysostosis 1; Spondylocostal dysostosis 2; Spondylocostal dysostosis 3; Spondylocostal dysostosis 4; Spondylocostal dysostosis 5; Spondylocostal dysostosis 6 See More
Spondylocostal dysostosis is a group of conditions characterized by abnormal development of the bones in the spine and ribs. In the spine, the vertebrae are misshapen and fused. Many people with this condition have an abnormal side-to-side curvature of the spine (scoliosis). The ribs may be fused together or missing. These bone malformations lead to short, rigid necks and short midsections. Infants with spondylocostal dysostosis have small, narrow chests that cannot fully expand. This can lead to life-threatening breathing problems. Males with this condition are at an increased risk for inguinal hernia, where the diaphragm is pushed down, causing the abdomen to bulge out. There are several types of spondylocostal dysostosis. These types have similar features and are distinguished by their genetic cause and how they are inherited, autosomal recessive or autosomal dominant .[1][2] Some of the autosomal recessive types of spondylocostal dysostosis are called "Jarcho-Levin syndrome", a term that is more often used as a synonym for a similar condition known as "spondylothoracic dysostosis".[3] Treatment is symptomatic and supportive and may include respiratory support and surgery to correct inguinal hernia and scoliosis.[3]



Last updated: 4/22/2016

Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.

Testing Resources

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Patient Registry

  • A registry supports research by collecting of information about patients that share something in common, such as being diagnosed with Spondylocostal dysostosis. The type of data collected can vary from registry to registry and is based on the goals and purpose of that registry. Some registries collect contact information while others collect more detailed medical information. Learn more about registries.

    Registries for Spondylocostal dysostosis:
    International Skeletal Dysplasia Registry (ISDR)
     

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

  • Genetics Home Reference (GHR) contains information on Spondylocostal dysostosis. This website is maintained by the National Library of Medicine.

In-Depth Information

  • Online Mendelian Inheritance in Man (OMIM) lists the subtypes and associated genes for Spondylocostal dysostosis in a table called Phenotypic Series. Each entry in OMIM includes a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.

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  1. Spondylocostal dysostosis. Genetics Home Reference (GHR). February 2011; http://ghr.nlm.nih.gov/condition/spondylocostal-dysostosis.
  2. SPONDYLOCOSTAL DYSOSTOSIS 1, AUTOSOMAL RECESSIVE; SCDO1. Online Mendelian Inheritance in Man (OMIM). September 2015; http://www.omim.org/entry/277300.
  3. Turnpenny PD, Young E. Spondylocostal Dysostosis, Autosomal Recessive. GeneReviews. January 2013; http://www.ncbi.nlm.nih.gov/books/NBK8828/.