It is possible that the main title of the report Hajdu Cheney Syndrome is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.
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.
March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains, NY 10605
NIH/NationaI Institute of Arthritis and Musculoskeletal and Skin Diseases
One AMS Circle
Bethesda, MD 20892-3675
MUMS National Parent-to-Parent Network
150 Custer Court
Green Bay, WI 54301-1243
Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg, MD 20898-8126
PO Box 241956
Los Angeles, CA 90024
Hajdu-Cheney Support Group
1301 Amelia Avenue
Portsmouth, VA 23707
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
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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
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Last Updated: 4/25/2008
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