Spondyloepiphyseal Dysplasia, Congenital

National Organization for Rare Disorders, Inc.

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Disorder Subdivisions

  • None

General Discussion

Summary

Spondyloepiphyseal dysplasia congenita (SEDC) is a rare genetic disorder characterized by deformities that begin before birth (prenatally), including skeletal and joint malformations involving the spine, hips and knees, and abnormalities affecting the eyes. Such growth deformities lead to children being shorter than normally would be expected based upon their age and gender (short stature or dwarfism). Some individuals may develop hearing and vision problems. Additional findings can occur in some cases. Intelligence is unaffected. SEDC is caused by mutations in the type II collagen (COL2A1) gene. The disorder is inherited in an autosomal dominant manner, but most cases occur due to a new (de novo) mutation with no previous family history.

Introduction

Spondyloepiphyseal dysplasia is a form of skeletal dysplasia (osteochondrodysplasia), a broad term for a group of disorders characterized by abnormal growth or development of cartilage or bone. SEDC is characterized by distinctive skeletal malformations affecting the long bones of the arms and legs as well as the bones of the spine (vertebrae). Characteristic involvement includes underdevelopment and fragmentation of the bone and cartilage of the epiphyses, which are the rounded ends or "heads" of the long bones, and underdevelopment or malformation of the vertebrae. There are two main forms of spondyloepiphyseal dysplasia, SEDC and spondyloepiphyseal dysplasia tarda (SEDT).

Supporting Organizations

European Skeletal Dysplasia Network

Institute of Genetic Medicine
Newcastle University
Newcastle upon Tyne, NE1 3BZ
United Kingdom
Tel: 441612755642
Fax: 441612755082
Email: info@esdn.org
Website: http://www.esdn.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
Website: http://rarediseases.info.nih.gov/GARD/

Human Growth Foundation

997 Glen Cove Avenue
Suite 5
Glen Head, NY 11545
Tel: (516)671-4041
Fax: (516)671-4055
Tel: (800)451-6434
Email: hgf1@hgfound.org
Website: http://www.hgfound.org/

Little People of America, Inc.

250 El Camino Real Suite 201
Tustin, CA 92780
Tel: (714)368-3689
Fax: (714)368-3367
Tel: (888)572-2001
Email: info@lpaonline.org
Website: http://www.lpaonline.org/

MAGIC Foundation

6645 W. North Avenue
Oak Park, IL 60302
Tel: (708)383-0808
Fax: (708)383-0899
Tel: (800)362-4423
Email: contactus@magicfoundation.org
Website: http://www.magicfoundation.org

Restricted Growth Association

PO Box 5137
Yeovil, BA20 9FF
United Kingdom
Tel: 3001111970
Fax: 3001112454
Email: office@restrictedgrowth.co.uk
Website: http://www.restrictedgrowth.co.uk

For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders (NORD). For a full-text version of this report, go to www.rarediseases.org and click on Rare Disease Database under "Rare Disease Information".

The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only.

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.

Last Updated:  5/6/2015
Copyright  2015 National Organization for Rare Disorders, Inc.