Hajdu-Cheney syndrome

Common Name(s)

Hajdu-Cheney syndrome, Serpentine fibula polycystic kidney syndrome, Acrodentoosteodysplasia, Acroosteolysis with osteoporosis and changes in skull and mandible, Arthrodentoosteodysplasia, Familial osteodysplasia

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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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Hajdu-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 "Hajdu-Cheney syndrome" returned 16 free, full-text research articles on human participants. First 3 results:

Bone Structural Characteristics and Response to Bisphosphonate Treatment in Children With Hajdu-Cheney Syndrome.
 

Author(s): Sophia Sakka, Rachel I Gafni, Justin H Davies, Bart Clarke, Peter Tebben, Mark Samuels, Vrinda Saraff, Klaus Klaushofer, Nadja Fratzl-Zelman, Paul Roschger, Frank Rauch, Wolfgang Högler

Journal: J. Clin. Endocrinol. Metab.. 2017 11;102(11):4163-4172.

 

Hajdu-Cheney syndrome (HJCYS) is a rare, multisystem bone disease caused by heterozygous mutations in the NOTCH2 gene. Histomorphometric and bone ultrastructural analyses in children have not been reported and sparse evidence exists on response to bisphosphonate (BP) therapy.

Last Updated: 31 Dec 1969

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Sustained Notch2 signaling in osteoblasts, but not in osteoclasts, is linked to osteopenia in a mouse model of Hajdu-Cheney syndrome.
 

Author(s): Stefano Zanotti, Jungeun Yu, Archana Sanjay, Lauren Schilling, Chris Schoenherr, Aris N Economides, Ernesto Canalis

Journal: J. Biol. Chem.. 2017 07;292(29):12232-12244.

 

Individuals with Hajdu-Cheney syndrome (HCS) present with osteoporosis, and HCS is associated with mutations causing deletions of the proline-, glutamic acid-, serine-, and threonine-rich (PEST) domain that are predicted to enhance NOTCH2 stability and cause gain-of-function. Previously, ...

Last Updated: 31 Dec 1969

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Hajdu Cheney Syndrome; report of a novel NOTCH2 mutation and treatment with denosumab.
 

Author(s): Giovanni Adami, Maurizio Rossini, Davide Gatti, Giovanni Orsolini, Luca Idolazzi, Ombretta Viapiana, Aldo Scarpa, Ernesto Canalis

Journal: Bone. 2016 11;92():150-156.

 

Notch receptors play a central role in skeletal development and homeostasis. Hajdu Cheney Syndrome (HCS) is a rare disease associated with mutations of NOTCH2 that lead to the translation of a truncated, presumably stable, NOTCH2 protein. As a consequence, a gain-of-NOTCH2 function ...

Last Updated: 31 Dec 1969

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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 "Hajdu-Cheney syndrome" returned 3 free, full-text review articles on human participants. First 3 results:

Hajdu-Cheney Syndrome, a Disease Associated with NOTCH2 Mutations.
 

Author(s): Ernesto Canalis, Stefano Zanotti

Journal: Curr Osteoporos Rep. 2016 08;14(4):126-31.

 

Notch plays an important function in skeletal homeostasis, osteoblastogenesis, and osteoclastogenesis. Hajdu-Cheney syndrome (HCS) is a rare disease associated with mutations in NOTCH2 leading to the translation of a truncated NOTCH2 stable protein. As a consequence, a gain-of-NOTCH2 ...

Last Updated: 31 Dec 1969

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Hajdu-Cheney syndrome: a review.
 

Author(s): Ernesto Canalis, Stefano Zanotti

Journal:

 

Hajdu Cheney Syndrome (HCS), Orpha 955, is a rare disease characterized by acroosteolysis, severe osteoporosis, short stature, specific craniofacial features, wormian bones, neurological symptoms, cardiovascular defects and polycystic kidneys. HCS is rare and is inherited as autosomal ...

Last Updated: 31 Dec 1969

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Hajdu-Cheney syndrome: a case report with review of literature.
 

Author(s): Shailesh Palav, Jeevan Vernekar, Sweta Pereira, Ankush Desai

Journal:

 

Hajdu-Cheney syndrome is a very rare connective tissue disorder. It has autosomal dominant inheritance or may occur due to spontaneous de novo mutation. Recent research suggests that it is caused by heterozygous mutation of terminal exon of NOTCH 2. Most characteristic findings include ...

Last Updated: 31 Dec 1969

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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.