Camurati Engelmann Disease

Common Name(s)

Camurati Engelmann Disease, Camurati-Engelmann Disease, Diaphyseal dysplasia

Camurati-Engelmann disease is a genetic condition that mainly affects the bones. People with this disease have increased bone density, particularly affecting the long bones of the arms and legs. In some cases, the skull and hip bones are also affected. The thickened bones can lead to pain in the arms and legs, a waddling walk, muscle weakness, and extreme tiredness. The age at which affected individuals first experience symptoms varies greatly; however, most people with this condition develop pain or weakness by adolescence.

Camurati-Engelmann disease is caused by a mutation in the TGFB1 gene which is inherited in an autosomal dominant fashion. In some instances, people have the gene mutation that causes Camurati-Engelmann disease but never develop the characteristic features of this condition. In others, features are present, but a mutation cannot be identified. These cases are referred to as Camurati-Engelmann disease type II.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Camurati Engelmann Disease" for support, advocacy or research.

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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 "Camurati Engelmann Disease" returned 18 free, full-text research articles on human participants. First 3 results:

Camurati-Engelmann disease-a rare cause of tetany identified on bone scintigraphy: A case report.
 

Author(s): Peng Xie, Jian-Min Huang, Huan-Li Li, Xiao-Jie Huang, Ling-Ge Wei

Journal: Medicine (Baltimore). 2017 Jul;96(27):e7141.

 

Camurati-Engelmann disease (i.e., progressive diaphyseal dysplasia) is an extremely rare autosomal dominant bone disorder. The most common clinical manifestations were chronic skeletal pain, waddling gait, muscular weakness.

Last Updated: 6 Jul 2017

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Imaging aspects of Camurati-Engelmann disease.
 

Author(s): Simone Uezato, Gustavo Dias, Juliana Inada, Marcelo Valente, Eloy Fernandes

Journal: Rev Assoc Med Bras (1992). 2016 Dec;62(9):825-827.

 

Last Updated: 21 Dec 2016

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Clinical diagnosis and mutation analysis of a Chinese family with Camurati-Engelmann disease.
 

Author(s): Yong Chen, Wanqin Xie, Feng Hu, Jia Chen, Hexin Zheng, Haiyan Zhou, Bin Ni, Wanmeng Li, Jianda Zhou

Journal: Mol Med Rep. 2017 Jan;15(1):235-239.

 

Camurati-Engelmann disease (CED) is a rare autosomal dominant bone disorder caused by a mutation in transforming growth factor β1 (TGFβ1). The present study aimed to identify a Chinese family with suspected CED based on the clinical symptoms, including pain in extremities, waddling ...

Last Updated: 13 Dec 2016

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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 "Camurati Engelmann Disease" returned 1 free, full-text review articles on human participants. First 3 results:

Camurati-Engelmann disease: review of the clinical, radiological, and molecular data of 24 families and implications for diagnosis and treatment.
 

Author(s): K Janssens, F Vanhoenacker, M Bonduelle, L Verbruggen, L Van Maldergem, S Ralston, N Guañabens, N Migone, S Wientroub, M T Divizia, C Bergmann, C Bennett, S Simsek, S Melançon, T Cundy, W Van Hul

Journal: J. Med. Genet.. 2006 Jan;43(1):1-11.

 

Camurati-Engelmann disease (CED) is a rare autosomal dominant type of bone dysplasia. This review is based on the unpublished and detailed clinical, radiological, and molecular findings in 14 CED families, comprising 41 patients, combined with data from 10 other previously reported ...

Last Updated: 6 Jan 2006

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Clinical Trial Information This information is provided by ClinicalTrials.gov

TGF-(Beta) and Susceptibility to RSV
 

Status: Recruiting

Condition Summary: Respiratory Syncytial Virus; Asthma

 

Last Updated: 30 Jun 2017

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