Jansen type metaphyseal chondrodysplasia

Common Name(s)

Jansen type metaphyseal chondrodysplasia, Murk Jansen metaphyseal chondrodysplasia

Jansen type metaphyseal chondrodysplasia, also known as Jansen disease, is a rare condition in which the bones of the arms and legs develop abnormally due to abnormal cartilage and bone formation at the large end of the bones (metaphyseal chondrodysplasia). This causes short arms and legs, and short stature (a form of dwarfism). Other symptoms are variable in affected individuals but may include: deformed bones in the hands and feet, facial and skeletal malformations, stiffening/swelling of joints, hardened bones in the back of the head, high levels of calcium in the blood (hypercalcemia), and blindness and/or deafness (due to bone deformities in the skull). Jansens disease is autosomal dominant, meaning that it is passed from parent to child, and if one parent has it there is a 50% chance that each of their children will have it as well. This condition is typically diagnosed in infancy or childhood through a physical examination. Treatment varies and depends on the severity of the case.

Source: Advocacy organizations associated with the condition.

 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Jansen type metaphyseal chondrodysplasia" for support, advocacy or research.

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Craniofacial Foundation of America

The Craniofacial Foundation of America (CFA) is a nonprofit organization that supports the work of the Tennessee Craniofacial Center at Children's Hospital and Erlanger Health System in Chattanooga, Tennessee. The CFA is dedicated to providing support for individuals with facial disfigurement from birth defects, tumors and trauma.

Last Updated: 13 Jul 2015

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Human Growth Foundation

The Human Growth Foundation helps children and adults with disorders related to growth or growth-hormone through education, research, support and advocacy.

Last Updated: 10 Jul 2015

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Little People of America, Inc.

Little People of America, Inc. (LPA), will assist dwarfs with their physical and developmental concerns resulting from short stature. By providing medical, environmental, educational, vocational, and parental guidance, short-statured individuals and their families may enhance their lives and lifestyles with minimal limitations. Through peer support and personal example, our members will be supportive of all those who reach out to LPA. Lastly, by networking with national and international growth-related and genetic-support groups, LPA will enhance knowledge and support of short-statured individuals.

Last Updated: 10 Jul 2015

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General Support Organizations

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Jansen type metaphyseal chondrodysplasia" for support, advocacy or research.

Logo
Craniofacial Foundation of America

The Craniofacial Foundation of America (CFA) is a nonprofit organization that supports the work of the Tennessee Craniofacial Center at Children's Hospital and Erlanger Health System in Chattanooga, Tennessee. The CFA is dedicated to providing support for individuals with facial disfigurement from birth defects, tumors and trauma.

http://www.craniofacialfoundation.org

Last Updated: 13 Jul 2015

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Human Growth Foundation

The Human Growth Foundation helps children and adults with disorders related to growth or growth-hormone through education, research, support and advocacy.

http://hgfound.org

Last Updated: 10 Jul 2015

View Details
Little People of America, Inc.

Little People of America, Inc. (LPA), will assist dwarfs with their physical and developmental concerns resulting from short stature. By providing medical, environmental, educational, vocational, and parental guidance, short-statured individuals and their families may enhance their lives and lifestyles with minimal limitations. Through peer support and personal example, our members will be supportive of all those who reach out to LPA. Lastly, by networking with national and international growth-related and genetic-support groups, LPA will enhance knowledge and support of short-statured individuals.

http://www.lpaonline.org

Last Updated: 10 Jul 2015

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General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Jansen type metaphyseal chondrodysplasia" returned 1 free, full-text research articles on human participants. First 3 results:

Jansen-type metaphyseal chondrodysplasia: analysis of PTH/PTH-related protein receptor messenger RNA by the reverse transcriptase-polymerase chain method.
 

Author(s): M Minagawa, K Arakawa, S Takeuchi, K Minamitani, T Yasuda, H Niimi

Journal: Endocr. J.. 1997 Aug;44(4):493-9.

 

Jansen-type metaphyseal chondrodysplasia (JMC) has both delayed ossification in long bones and usually hypercalcemia. We report a Japanese male patient with JMC who presented with rachitic signs on radiographs, hypercalcemia (13 mg/dl) and low %TRP at age 3 months (mo). Hypercalcemia ...

Last Updated: 13 Mar 1998

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Jansen type metaphyseal chondrodysplasia" returned 0 free, full-text review articles on human participants.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.