It is possible that the main title of the report McKusick Type Metaphyseal Chondrodysplasia 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.
McKusick type metaphyseal chondrodysplasia, also known as cartilage-hair hypoplasia, is a rare progressive inherited disorder characterized by unusually fine, sparse hair and short stature with abnormally short arms and legs (short-limbed dwarfism). Portions of the long bones of the arms and legs develop abnormally with unusual cartilage formations and subsequent abnormal bone formation at the large (bulbous) end portions (metaphyses) of these long bones (metaphyseal chondrodysplasia). In addition, most individuals with McKusick type metaphyseal chondrodysplasia may exhibit impairment of specialized cells (T-cells) that play an important role in helping the body's immune system to fight infection (cellular immunodeficiency). Affected individuals may also have abnormally low levels of certain white blood cells (neutropenia and lymphopenia); low levels of circulating red blood cells (anemia); and/or increased susceptibility to certain infections, such as chickenpox. In some cases, affected infants may also exhibit improper intestinal absorption of certain necessary nutrients (malabsorption) and/or dental abnormalities such as unusually small teeth (microdontia). Some individuals with the disorder may also have additional physical abnormalities. The range and severity of symptoms vary widely from case to case. McKusick type metaphyseal chondrodysplasia is inherited as an autosomal recessive trait.
Human Growth Foundation
997 Glen Cove Avenue
Glen Head, NY 11545
6645 W. North Avenue
Oak Park, IL 60302
Immune Deficiency Foundation
40 W. Chesapeake Avenue
Towson, MD 21204
Little People of America, Inc.
250 El Camino Real
Tustin, CA 92780
NIH/National Heart, Lung and Blood Institute
P.O. Box 30105
Bethesda, MD 20892-0105
Coalition for Heritable Disorders of Connective Tissue (CHDCT)
4301 Connecticut Avenue, NW Suite 404
Washington, DC 20008
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
European Society for Immunodeficiencies
1-3 rue de Chantepoulet
Geneva, CH 1211
Tel: +31 73-6992965
Fax: +41 22 906 91 40
European Skeletal Dysplasia Network
Wellcome Trust Centre for Cell-Matrix Research
Faculty of Life Sciences
University of Manchester
Michael Smith Building, Oxford Road
Manchester, M13 9PT
Tel: 44 161 275 5642
Fax: 44 161 275 5082
This is an abstract of a report from the National Organization for Rare Disorders (NORD). A copy of the complete report can be downloaded free from the NORD website for registered users. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational therapies (if available), and references from medical literature. For a full-text version of this topic, go to www.rarediseases.org and click on Rare Disease Database under "Rare Disease Information".
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.
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Last Updated: 5/15/2008
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