Hadju-Cheney syndrome

Common Name(s)

Hadju-Cheney syndrome, Acroosteolysis with Osteoporosis and Changes in Skull and Mandible

Hajdu-Cheney syndrome is a rare connective tissue disorder characterized by acroosteolysis (the breakdown of the bones in the fingers and the toes), skull deformities, and generalized osteoporosis.  Other symptoms may include short stature, joint laxity, premature loss of teeth, hearing loss, and a hoarse voice. Most patients have normal intelligence. This condition is inherited in an autosomal dominant fashion and caused by mutations in the NOTCH2 gene.  
 

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How do you compare to others with this condition?

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Hadju-Cheney syndrome" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

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 "Hadju-Cheney syndrome" returned 1 free, full-text research articles on human participants. First 3 results:

[Hadju-Cheney syndrome: kidney disturbs in a case report].
 

Author(s): Élida Lívia Rafael Dantas, Mário Lima Pontes, Paula Francinetti Camurça Castelo Branco Fernandes, Erlane Marques Ribeiro, Elizabeth de Francesco Daher

Journal: J Bras Nefrol. ;35(2):165-7.

 

Hajdu-Cheney disease is characterized by craniofacial dimorphisms and skeletal changes. Renal disturbs; such as renal cortical cysts, vesico-ureteral reflux and renal failure are rarely related but it is included as a less common feature. The diagnosis is not yet available and the ...

Last Updated: 1 Jul 2013

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Reviews from the PubMed Database

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The terms "Hadju-Cheney syndrome" returned 0 free, full-text review articles on human participants.

 
 
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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.