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McKusick Type Metaphyseal Chondrodysplasia
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Copyright 1989, 1997, 1998, 2000, 2004
Synonyms of McKusick Type Metaphyseal Chondrodysplasia
- Cartilage-Hair Hypoplasia
- Cartilage-Hair Hypoplasia
- CHH
- CHH
Disorder Subdivisions
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.
Organizations related to McKusick Type Metaphyseal Chondrodysplasia
- 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 None M13 9PT
Phone #: 44 -161- 275 5642
800 #: N/A
e-mail: info@esdn.org
Home page: http://www.esdn.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 None D-79106
Phone #: +31- 73--6992965
800 #: N/A
e-mail: info@esid.org
Home page: http://www.esid.org
- Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg MD 20898-8126
Phone #: 301-251-4925
800 #: 888-205-2311
e-mail: ordr@od.nih.gov
Home page: http://rarediseases.info.nih.gov/Default.aspx
- Human Growth Foundation
997 Glen Cove Avenue
Glen Head NY 11545
Phone #: 516-671-4041
800 #: 800-451-6434
e-mail: hgf1@hgfound.org
Home page: http://www.hgfound.org/
- Immune Deficiency Foundation
40 West Chesapeake Avenue
Suite 308
Towson MD 21204
Phone #: 410-321-6647
800 #: 800-296-4433
e-mail: idf@primaryimmune.org
Home page: http://www.primaryimmune.org
- Little People of America, Inc.
250 El Camino Real
Suite 201
Tustin CA 92780
Phone #: 714-368-3689
800 #: 888-572-2001
e-mail: info@lpaonline.org
Home page: http://www.lpaonline.org
- MAGIC Foundation
6645 W. North Avenue
Oak Park IL 60302
Phone #: 708-383-0808
800 #: 800-362-4423
e-mail: mary@magicfoundation.org
Home page: http://www.magicfoundation.org
- MUMS (Mothers United for Moral Support, Inc) National Parent-to-Parent Network
150 Custer Court
Green Bay WI 54301-1243
Phone #: 920-336-5333
800 #: 877-336-5333
e-mail: mums@netnet.net
Home page: http://www.netnet.net/mums/
- Madisons Foundation
PO Box 241956
Los Angeles CA 90024
Phone #: 310-264-0826
800 #: N/A
e-mail: getinfo@madisonsfoundation.org
Home page: http://www.madisonsfoundation.org
- NIH/National Heart, Lung and Blood Institute Information Center
P.O. Box 30105
Bethesda MD 20824-0105
Phone #: 301-592-8573
800 #: --
e-mail: nhlbiinfo@rover.nhlbi.nih.gov
Home page: N/A
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