Spondyloepiphyseal Dysplasia, Congenital

Spondyloepiphyseal Dysplasia, Congenital

National Organization for Rare Disorders, Inc.

Important

It is possible that the main title of the report Spondyloepiphyseal Dysplasia, Congenital is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.

Synonyms

  • Pseudoachondroplasia
  • SED Congenital
  • SEDC

Disorder Subdivisions

  • None

General Discussion

Congenital spondyloepiphyseal dysplasia is a rare genetic disorder characterized by growth deficiency before birth (prenatally), spinal malformations, and/or abnormalities affecting the eyes. As affected individuals age, growth deficiency eventually results in short stature (dwarfism) due, in part, to a disproportionately short neck and trunk, and a hip deformity in which the thigh bone is angled toward the center of the body (coxa vara). In most cases, affected individuals may have diminished muscle tone (hypotonia), abnormal front-to-back and side-to-side curvature of the spine (kyphoscoliosis), abnormal inward curvature of the spine (lumbar lordosis), and/or unusual protrusion of the breast bone (sternum), a condition known as pectus carinatum. Affected individuals also have abnormalities affecting the eyes including nearsightedness (myopia) and, in approximately 50 percent of cases, detachment of the nerve-rich membrane lining the eye (retina). Congenital spondyloepiphyseal dysplasia is inherited as an autosomal dominant trait.

Symptoms

Congenital spondyloepiphyseal dysplasia is characterized by growth deficiency that occurs before birth (prenatally), spinal malformations, and/or abnormalities of the eyes. Growth deficiencies continue after birth and throughout childhood, resulting in short stature (dwarfism). Short stature also results, in part, due to a disproportionately short neck and trunk, and a hip deformity in which the thighbone is angled toward the center of the body (coxa vara). In most cases, affected infants also exhibit diminished muscle tone (hypotonia), muscle weakness, and/or stiffness.



In most cases, affected individuals have spinal malformations including abnormal front-to-back and side-to-side curvature of the spine (kyphoscoliosis), abnormal inward curvature of the spine (lumbar lordosis). Stiffness and diminished joint mobility at the knees, elbows, and hips may be present. Hypotonia, muscle weakness, and spinal malformations may result in a delay in affected children learning to walk. In some cases, affected children may exhibit an unusual "waddling" walk (gait).



In most cases, affected individuals develop progressive nearsightedness (myopia) and, in approximately 50 percent of cases, detachment of the nerve-rich membrane lining the eye (retina). In some cases, affected individuals also have an abnormally flat face, underdevelopment of the cheek bone (malar hypoplasia), and/or incomplete closure of the roof of the mouth (cleft palate).



Additional abnormalities associated with congenital spondyloepiphyseal dysplasia may include underdevelopment of the stomach (abdominal) muscles; a rounded, bulging chest (barrel chest) with an unusually prominent breast bone (sternum), a condition known as pectus carinatum; and/or the heel of the foot may be turned inward toward body while the rest of the foot is bent downward and inward (talipes equinovarus or clubfoot). In rare cases, affected individuals may exhibit hearing impairment due to abnormalities of the inner ear (sensorineural hearing loss).



Some researchers have separated congenital spondyloepiphyseal dysplasia into two types. In one type, affected individuals have more severe short stature and hip abnormalities. Affected individuals with the second type are taller and have milder hip malformations.

Causes

Congenital spondyloepiphyseal dysplasia is inherited as an autosomal dominant trait. Human traits, including the classic genetic diseases, are the product of the interaction of two genes, one received from the father and one from the mother.



In dominant disorders, a single copy of the disease gene (received from either the mother or father) will be expressed "dominating" the other normal gene and resulting in the appearance of the disease. The risk of transmitting the disorder from affected parent to offspring is 50 percent for each pregnancy regardless of the sex of the resulting child. The risk is the same for each pregnancy.



A variety of mutations (e.g., deletions, duplications, etc.) involving the COL2A1 gene, which codes for Type II collagen, may lead to the development of congenital spondyloepiphyseal dysplasia. Collagen is the major protein of bone and connective tissue including the skin, tendons, and sclera.

Affected Populations

Congenital spondyloepiphyseal dysplasia affects males and females in equal numbers. One estimate placed the number of cases at 1 per 100,000 live births.

Standard Therapies

Treatment of congenital spondyloepiphyseal dyplasia includes early symptomatic correction of the clubfoot deformity, closure of the cleft palate, prevention of retinal detachment by regular ophthalmologic examinations and coagulation of early retinal tears. Ongoing orthopedic care is often necessary throughout life.



Genetic counseling will be of benefit for affected individuals and their families. Other treatment for this disorder is symptomatic and supportive.

Investigational Therapies

Information on current clinical trials is posted on the Internet at www.clinicaltrials.gov. All studies receiving U.S. government funding, and some supported by private industry, are posted on this government web site.



For information about clinical trials being conducted at the NIH Clinical Center in Bethesda, MD, contact the NIH Patient Recruitment Office:



Tollfree: (800) 411-1222

TTY: (866) 411-1010

Email: prpl@cc.nih.gov



For information about clinical trials sponsored by private sources, contact:

www.centerwatch.com

References

TEXTBOOKS

Jones KL, ed. Smith's Recognizable Patterns of Human Malformation. 5th ed. Philadelphia, PA: W. B. Saunders Co: 1997:358.



Gorlin RJ, et al., eds. Syndromes of the Head and Neck, 3rd ed. New York, NY: Oxford University Press; 1990:220-23.



JOURNAL ARTICLES

Gembun Y, et al. A case report of spondyloepiphyseal dysplasia congenita. J Nippon Med Sch. 2001;68:186-89.



Tiller GE, et al. Tandem duplication within a type II collagen gene (COPL2A1) exon in an individual with spondyloepiphyseal dysplasia. Proc Natl Acad Sci U S A. 1990;87:3889-93.



Anderson IJ, et al. Spondyloepiphyseal dysplasia congenital: genetic linkage to type II collagen (COL2AI). Am J Hum Genet. 1990;46:896-901.



Harrod MJ, et al. Genetic heterogeneity in spondyloepiphyseal dysplasia congenita. Am J Med Genet. 1984;8:311-20.



FROM THE INTERNET

McKusick VA, ed. Online Mendelian Inheritance in Man (OMIM). Baltimore. MD: The Johns Hopkins University; Entry No: 183900; Last Update:4/12/00.

Resources

Human Growth Foundation

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Email: hgf1@hgfound.org

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MAGIC Foundation

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Tel: (708)383-0808

Fax: (708)383-0899

Tel: (800)362-4423

Email: mary@magicfoundation.org

Internet: http://www.magicfoundation.org



Little People of America, Inc.

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Tel: (714)368-3689

Fax: (714)368-3367

Tel: (888)572-2001

Email: info@lpaonline.org

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Coalition for Heritable Disorders of Connective Tissue (CHDCT)

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Washington, DC 20008

Tel: (202)362-9599

Fax: (202)966-8553

Tel: (800)778-7171

Email: chdct@pxe.org

Internet: http://www.chdct2.org/



Kniest SED Group

Email: support@ksginfo.org

Internet: http://www.ksginfo.org



Genetic and Rare Diseases (GARD) Information Center

PO Box 8126

Gaithersburg, MD 20898-8126

Tel: (301)251-4925

Fax: (301)251-4911

Tel: (888)205-2311

TDD: (888)205-3223

Internet: http://rarediseases.info.nih.gov/GARD/



Madisons Foundation

PO Box 241956

Los Angeles, CA 90024

Tel: (310)264-0826

Fax: (310)264-4766

Email: getinfo@madisonsfoundation.org

Internet: http://www.madisonsfoundation.org



European Skeletal Dysplasia Network

Institute of Genetic Medicine

Newcastle University

International Centre for Life

Central Parkway

Newcastle upon Tyne, NE1 3BZ

United Kingdom

Tel: 441612755642

Fax: 441612755082

Email: info@esdn.org

Internet: http://www.esdn.org



For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders, Inc.® (NORD). Cigna members can access the complete report by logging into myCigna.com. For non-Cigna members, 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.

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