McKusick Type Metaphyseal Chondrodysplasia

National Organization for Rare Disorders, Inc.

Important
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.

Synonyms

  • Cartilage-Hair Hypoplasia
  • CHH

Disorder Subdivisions

  • None

General Discussion

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.

Resources

Human Growth Foundation
997 Glen Cove Avenue
Glen Head, NY 11545
Tel: (516)671-4041
Fax: (516)671-4055
Tel: (800)451-6434
Email: hgf1@hgfound.org
Internet: http://www.hgfound.org/

MAGIC Foundation
6645 W. North Avenue
Oak Park, IL 60302
Tel: (708)383-0808
Fax: (708)383-0899
Tel: (800)362-4423
Email: mary@magicfoundation.org
Internet: http://www.magicfoundation.org

Immune Deficiency Foundation
40 West Chesapeake Avenue
Suite 308
Towson, MD 21204
Tel: (410)321-6647
Fax: (410)321-9165
Tel: (800)296-4433
Email: idf@primaryimmune.org
Internet: http://www.primaryimmune.org

Little People of America, Inc.
250 El Camino Real
Suite 201
Tustin, CA 92780
Tel: (714)368-3689
Fax: (714)368-3367
Tel: (888)572-2001
Email: info@lpaonline.org
Internet: http://www.lpaonline.org

NIH/National Heart, Lung and Blood Institute Information Center
P.O. Box 30105
Bethesda, MD 20824-0105
Tel: (301)592-8573
Fax: (301)251-1223
Email: nhlbiinfo@rover.nhlbi.nih.gov

MUMS 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/

Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg, MD 20898-8126
Tel: (301)251-4925
Fax: (301)251-4911
Tel: (888)205-2311
TDD: (888)205-3223
Email: ordr@od.nih.gov
Internet: http://rarediseases.info.nih.gov/Default.aspx

Madisons Foundation
PO Box 241956
Los Angeles, CA 90024
Tel: (310)264-0826
Fax: (310)264-4766
Email: getinfo@madisonsfoundation.org
Internet: http://www.madisonsfoundation.org

European Society for Immunodeficiencies (ESID)
c/o Dr. Bodo Grimbacher (ESID Board Member)
Division of Rheumatology and Clinical Immunology
Department of Medicine, University Hospital Freiburg
Hugstetter Strasse 55
Freiburg, D-79106
Germany
Tel: +31 73-6992965
Fax: +31 73-6992948
Email: info@esid.org
Internet: http://www.esid.org

European Skeletal Dysplasia Network (ESDN)
Wellcome Trust Centre for Cell-Matrix Research
Faculty of Life Sciences
University of Manchester
Michael Smith Building, Oxford Road
Manchester, M13 9PT
UK
Tel: 44 161 275 5642
Fax: 44 161 275 5082
Email: info@esdn.org
Internet: http://www.esdn.org

For a Complete Report

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

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