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Genetic and Rare Diseases Information Center (GARD)

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Spondyloepiphyseal dysplasia congenita


Other Names for this Disease

  • SED congenita
  • SEDC
  • Spondyloepiphyseal dysplasia, congenital type
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Overview

What is spondyloepiphyseal dysplasia congenita?

How is spondyloepiphyseal dysplasia congenita inherited?

What is spondyloepiphyseal dysplasia congenita?

Spondyloepiphyseal dysplasia congenita is an inherited disorder of bone growth that affects the bones of the spine and ends of the long bones in the arms and legs. Features of this condition include short stature (dwarfism); a very short trunk and neck; abnormal curvature of the spine; barrel-shaped chest; shortened limbs; an abnormality of the hip joint; and problems with vision and hearing. Arthritis and decreased joint mobility often develop early in life. More than 175 cases have been reported in the scientific literature. This condition is caused by mutations in the COL2A1 gene and is inherited in an autosomal dominant pattern. Most cases result from new mutations in the gene and occur in people with no family history of the condition.[1]
Last updated: 1/11/2012

How is spondyloepiphyseal dysplasia congenita inherited?

Spondyloepiphyseal dysplasia (SEDC) is typically inherited in an autosomal dominant manner. This means that one altered (mutated) gene in each cell is sufficient to cause the disorder. Most cases of SEDC do not result from inheriting it from a parent, however; the condition more commonly results from a random, new mutation in the gene occurring for the first time in an affected individual who does not have a history SEDC in the family.[2] In most of these cases, the risk to have another child with the condition is comparable to the risk for an individual in the general population to have a child with the condition. A few cases of autosomal recessive forms of SEDC have been reported.[3]

Germline mosaicism has also been reported for this condition.[3] In this case, the parent does not have the mutated gene in all the cells of the body (and is not affected), but only in some of the germ cells (sperm or egg cells). The recurrence risk for a parent with germline mosaicism to have another affected child is difficult to predict. For conditions with autosomal dominant inheritance, studies have demonstrated that the risk to have another affected child may be low (about 1%), moderate (about 6%), or higher (about 30%), depending on the proportion of germ cells with the mutation as well as the disorder itself.[4]
Last updated: 1/11/2012

References
  1. Spondyloepiphyseal dysplasia congenita. Genetics Home Reference. July 2008; http://ghr.nlm.nih.gov/condition/spondyloepiphyseal-dysplasia-congenita. Accessed 5/11/2011.
  2. Spondyloepiphyseal dysplasia congenita. Genetics Home Reference. July 2008; http://ghr.nlm.nih.gov/condition/spondyloepiphyseal-dysplasia-congenita. Accessed 1/11/2012.
  3. Shital Parikh. Spondyloepiphyseal Dysplasia. eMedicine. August 19, 2011; http://emedicine.medscape.com/article/1260836-overview. Accessed 1/11/2012.
  4. Germline Mosaicism. Inherited Health. May 29, 2009; http://www.inheritedhealth.com/info/condition.aspx?topic=162. Accessed 1/11/2012.


Other Names for this Disease
  • SED congenita
  • SEDC
  • Spondyloepiphyseal dysplasia, congenital type
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.