Hajdu Cheney Syndrome

Synonyms

• acroosteolysis with osteoporosis and changes in skull and mandible
• Cheney syndrome
• acroosteolysis dominant type
• acro-dento-osteo-dysplasia
• arthrodentoosteodysplasia
• HCS

Disorder Subdivisions

• None

General Discussion

Hajdu-Cheney syndrome (HCS) is a rare, heritable disorder of connective tissue; only about 50 cases have been reported in the medical literature. The breakdown of bone (osteolysis), especially the outermost bones of the fingers and toes (acroosteolysis), is a major characteristic of HCS.



In addition, patients with HCS frequently have skull deformities, short stature, joint laxity, reduction of bone mass (osteoporosis) and other signs. Most affected individuals have normal mental development but a small proportion show mild mental retardation.



Although the majority of cases are of unknown cause, the presence of multiple cases in one family suggests that autosomal dominant genetic transmission may be possible.

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Resources

March of Dimes Birth Defects Foundation

1275 Mamaroneck Avenue

White Plains, NY 10605

Tel: (914)428-7100

Fax: (914)997-4763

Tel: (888)663-4637

Email: Askus@marchofdimes.com

Internet: http://www.marchofdimes.com



NIH/National Arthritis and Musculoskeletal and Skin Diseases Information Clearinghouse

1 AMS Circle

Bethesda, MD 20892-3675

USA

Tel: (301)495-4484

Fax: (301)718-6366

Tel: (877)226-4267

TDD: (301)565-2966

Email: NIAMSinfo@mail.nih.gov

Internet: http://www.niams.nih.gov/Health_Info



MUMS (Mothers United for Moral Support, Inc) National Parent-to-Parent Network

150 Custer Court

Green Bay, WI 54301-1243

USA

Tel: (920)336-5333

Fax: (920)339-0995

Tel: (877)336-5333

Email: mums@netnet.net

Internet: http://www.netnet.net/mums/



Hajdu-Cheney Support Group

1301 Amelia Avenue

Portsmouth, VA 23707

Tel: (757)465-8169

Email: hcsgroup@yahoo.com

Internet: http://www.hajdu-cheney.com

For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders, Inc. ® (NORD). A copy of the complete report can be obtained for a small fee by visiting the NORD website. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational treatments (if available), and references from medical literature. For a full-text version of this topic, see http://www.rarediseases.org/search/rdblist.html

The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only. NORD recommends that affected individuals seek the advice or counsel of their own personal physicians.

It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this report

This disease entry is based upon medical information available through the date at the end of the topic. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.

For additional information and assistance about rare disorders, please contact the National Organization for Rare Disorders at P.O. Box 1968, Danbury, CT 06813-1968; phone (203) 744-0100; web site www.rarediseases.org or email orphan@rarediseases.org

Last Updated:  4/25/2008

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