Important It is possible that the main title of the report Costello 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.
Costello syndrome is an extremely rare disorder that affects multiple organ systems of the body. This condition is characterized by growth delays after birth; short stature; extra loose skin on the neck, palms of the hands, fingers, and soles of the feet; noncancerous tumors (papillomata) around the face and anus; developmental delay and intellectual disability; and a characteristic facial appearance. Other physical features may include the development of dry hardened skin on the palms of the hands and the soles of the feet (palmoplantar hyperkeratosis), abnormally deep creases on the palms and soles, and/or abnormally flexible joints of the fingers (hyperextensible). There is an increased incidence of congenital abnormalities of the heart and thickening of the heart muscle called a cardiomyopathy. Characteristic craniofacial features may include an abnormally large head (macrocephaly); course facial features; unusually thick lips; and/or abnormally wide nostrils (nares). Affected individuals have an increased lifetime risk to develop specific malignant tumors. Costello syndrome is an autosomal dominant genetic condition caused by mutations in the HRAS gene.
Human Growth Foundation 997 Glen Cove Avenue Suite 5 Glen Head, NY 11545 Tel: (516)671-4041 Fax: (516)671-4055 Tel: (800)451-6434 Email: email@example.com 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: firstname.lastname@example.org Internet: http://www.magicfoundation.org
Children's Craniofacial Association 13140 Coit Road Suite 517 Dallas, TX 75240 USA Tel: (214)570-9099 Fax: (214)570-8811 Tel: (800)535-3643 Email: contactCCA@ccakids.com Internet: http://www.ccakids.com
March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 Tel: (914)997-4488 Fax: (914)997-4763 Tel: (888)663-4637 Email: Askus@marchofdimes.com Internet: http://www.marchofdimes.com
The Arc 1825 K Street NW, Suite 1200 Washington, DC 20006 Tel: (202)534-3700 Fax: (202)534-3731 Tel: (800)433-5255 TDD: (817)277-0553 Email: email@example.com Internet: http://www.thearc.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: firstname.lastname@example.org Internet: http://www.lpaonline.org/
American Heart Association 7272 Greenville Avenue Dallas, TX 75231 Tel: (214)784-7212 Fax: (214)784-1307 Tel: (800)242-8721 Email: Review.email@example.com Internet: http://www.heart.org
Coalition for Heritable Disorders of Connective Tissue (CHDCT) 4301 Connecticut Avenue, NW Suite 404 Washington, DC 20008 Tel: (202)362-9599 Fax: (202)966-8553 Tel: (800)778-7171 Email: firstname.lastname@example.org Internet: http://www.chdct2.org/
International Costello Syndrome Support Group 90 Parkfield Road North New Moston Manchester, M40 3RQ United Kingdom Tel: 44 161 682 2479 Email: email@example.com Internet: http://www.costellokids.org.uk
Costello Syndrome Family Network P O Box 516 Woodinville, WA 98072-0516 USA Tel: (848)228-2736 Email: firstname.lastname@example.org Internet: http://www.costellosyndromeusa.org/
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 Internet: http://rarediseases.info.nih.gov/GARD/
Madisons Foundation PO Box 241956 Los Angeles, CA 90024 Tel: (310)264-0826 Fax: (310)264-4766 Email: email@example.com Internet: http://www.madisonsfoundation.org
For a Complete Report
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.
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 firstname.lastname@example.org
Last Updated: 3/4/2014 Copyright 1997, 2001, 2003, 2011, 2014 National Organization for Rare Disorders, Inc.
How this information was developed to help you make better health decisions.
Healthwise, Healthwise for every health decision, and the Healthwise logo are trademarks of Healthwise, Incorporated.