Hajdu-Cheney syndrome

Common Name(s)

Hajdu-Cheney syndrome, Serpentine fibula polycystic kidney syndrome, Arthrodentoosteodysplasia, Familial osteodysplasia, Acrodentoosteodysplasia, 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.  
 

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

Not finding the support you need? Show General Support Organizations

 
 
Top

How do you compare to others with this condition?

Privately answer questions about your health. Let resources, you select, come to you.

Anonymously share and see how your answers compare with others with this condition while privately providing key pieces of information to medical researchers, disease advocacy groups, and others ONLY YOU select to help speed up cures and better alternatives.

 
 

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

Not finding the support you need? Show General Support Organizations

 
 
 
 
Top

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 15 free, full-text research articles on human participants. First 3 results:

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

Go To URL
Hajdu-Cheney syndrome - a rare cause of micrognathia.
 

Author(s): S Deepak Amalnath, Vinod Babu

Journal: Indian J. Med. Res.. 2016 May;143(5):663-4.

 

Last Updated: 31 Dec 1969

Go To URL
An unusual presentation of diabetic ketoacidosis in familial hajdu-cheney syndrome: a case report.
 

Author(s): Gil-Ho Lee, So-Yeon An, Young Bae Sohn, Seon-Yong Jeong, Yoon-Sok Chung

Journal: J. Korean Med. Sci.. 2013 Nov;28(11):1682-6.

 

A 21-year-old man with diabetic ketoacidosis (DKA) displayed short and clubbed fingers and marked eyebrow, which are typical of Hajdu-Cheney Syndrome (HCS). Laboratory findings confirmed type 1 diabetes mellitus (DM). After conservative care with hydration and insulin supply, metabolic ...

Last Updated: 31 Dec 1969

Go To URL

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 Aug;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

Go To URL
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

Go To URL
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

Go To URL
 
 
Top

Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.