Jansen Type Metaphyseal Chondrodysplasia

Important

It is possible that the main title of the report Jansen Type Metaphyseal Chondrodysplasia 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

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• Murk Jansen Type Metaphyseal Chondrodysplasia
• Jansen Metaphyseal Dysostosis
• Jansen Disease

Disorder Subdivisions

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• None

General Discussion

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Jansen type metaphyseal chondrodysplasia is an extremely rare progressive disorder in which portions of the bones of the arms and legs develop abnormally with unusual cartilage formations and subsequent abnormal bone formation at the large (bulbous) end portions (metaphyses) of these long bones (metaphyseal chondrodysplasia). As a result, affected individuals exhibit unusually short arms and legs and short stature (short-limbed dwarfism), findings that typically become apparent during early childhood. Abnormal cartilage and bone development may also affect other bones of the body, particularly those of the hands and feet (i.e., metacarpals and metatarsals). Infants with Jansen type metaphyseal chondrodysplasia may also have characteristic facial abnormalities and additional skeletal malformations. During childhood, affected individuals may begin to exhibit progressive stiffening and swelling of many joints and/or an unusual "waddling gait" and squatting stance. In addition, affected adults may eventually develop abnormally hardened (sclerotic) bones especially in the back of the head (cranial bones), which, in some cases, may lead to blindness and/or deafness. In addition, in some cases, affected individuals have abnormally high levels of calcium in the blood (hypercalcemia). The range and severity of symptoms may vary from case to case. Most cases of Jansen type metaphyseal chondrodysplasia occur randomly as the result of a spontaneous genetic change (i.e., new genetic mutation)

Resources

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Human Growth Foundation

997 Glen Cove Avenue

Glen Head, NY 11545

Tel: (516)671-4041

Fax: (516)671-4055

Tel: (800)451-6434

Email: hgf1@hgfound.org

Internet: 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

Tel: (800)362-4423

Email: mary@magicfoundation.org

Internet: http://www.magicfoundation.org



Little People of America, Inc.

5289 Northeast Elam Young Parkway

Suite F100

Hillsboro, OR 97124

Tel: (503)846-1562

Fax: (503)846-1590

Tel: (888)572-2001

Email: info@lpaonline.org

Internet: http://www.lpaonline.org



National Craniofacial Foundation

3100 Carlisle Street

Suite 215

Dallas, TX 75204

Tel: (800)535-3643



NIH/National Arthritis and Musculoskeletal and Skin Diseases Information Clearinghouse

1 AMS Circle

Bethesda, MD 20892-3675

USA

Tel: 3014954484

Fax: 3017186366

Tel: 8772264267

TDD: 3015652966

Email: NIAMSinfo@mail.nih.gov

Internet: http://www.niams.nih.gov



NIH/Nat'l Institute on Deafness & Other Communication Disorders Information Clearinghouse

1 Communication Ave

Bethesda, MD 20892-3456

Tel: (301)402-0900

Fax: (301)907-8830

Tel: (800)241-1044

TDD: (800)241-1105

Email: nidcdinfo@nidcd.nih.gov

Internet: http://www.nidcd.nih.gov



Craniofacial Foundation of America

975 East Third Street

Chattanooga, TN 37403

Tel: (423)778-9192

Fax: (423)778-8172

Tel: (800)418-3223

Email: farmertm@erlanger.org

Internet: http://www.craniofacialcenter.com

For a Complete Report

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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:   4/5/2005

Copyright   1997, 1998, 2004, 2005 National Organization for Rare Disorders, Inc.