Spondyloepiphyseal Dysplasia, Congenital

Important
It is possible that the main title of the report Spondyloepiphyseal Dysplasia, Congenitalis not the name you expected.

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.
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Resources

Human Growth Foundation
997 Glen Cove Avenue
Glen Head
NY
11545
Tel: (516)671-4041
Fax: (516)671-4055
800: (800)451-6434
hgf1@hgfound.org
http://www.hgfound.org/

MAGIC Foundation for Children's Growth
6645 W. North Avenue
Oak Park
IL
60302
Tel: (708)383-0808
Fax: (708)383-0899
800: (800)362-4423
mary@magicfoundation.org
http://www.magicfoundation.org

Little People's Research Fund, Inc.
616 Old Edmondson Avenue
2nd Floor
Catonsville
MD
21228-3305
USA
Tel: (410)747-1100
Fax: (410)747-1374
800: (800)232-5773
lprf@lprf.org
http://www.lprf.org

Little People of America, Inc.
250 El Camino Real
Suite 201
Tustin
CA
92780
Tel: (714)368-3689
800: (888)572-2001
info@lpaonline.org
http://www.lpaonline.org

MUMS (Mothers United for Moral Support, Inc) National Parent-to-Parent Network
150 Custer Court
Green Bay
WI
54301-1243
USA
Tel: (920)336-5333
Fax: (920)339-0995
800: (877)336-5333
mums@netnet.net
http://www.netnet.net/mums/

Kniest SED Group
support@ksginfo.org
http://www.ksginfo.org

European Skeletal Dysplasia Network (ESDN)
Wellcome Trust Centre for Cell-Matrix Research
Faculty of Life Sciences
University of Manchester
Michael Smith Building, Oxford Road
Manchester
M13 9PT
UK
Tel: 44 161 275 5642
Fax: 44 161 275 5082
info@esdn.org
http://www.esdn.org

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

The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only. NORD recommends that affected individuals seek the advice or counsel of their own personal physicians.

It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this report

This disease entry is based upon medical information available through the date at the end of the topic. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.

For additional information and assistance about rare disorders, please contact the National Organization for Rare Disorders at P.O. Box 1968, Danbury, CT 06813-1968; phone (203) 744-0100; web site www.rarediseases.org or email orphan@rarediseases.org

Last Updated: 3/25/2002
Copyright 1986, 1987, 1989, 1996, 1997, 2001, 2002 National Organization for Rare Disorders, Inc.

WebMD Medical Reference from the National Organization of Rare Disorders

Last Updated: March 25, 2002

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