Cardiofaciocutaneous Syndrome

National Organization for Rare Disorders, Inc.

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Important
It is possible that the main title of the report Cardiofaciocutaneous Syndrome is not the name you expected.

Disorder Subdivisions

  • None

General Discussion

Summary

Cardiofaciocutaneous (CFC) syndrome is one of the RASopathies and is a rare genetic disorder is typically characterized by unusually sparse, brittle, curly hair; large head (macrocephaly); a prominent forehead and abnormal narrowing of the sides of the forehead (bi-temporal narrowing); intellectual disability; failure to thrive; heart defects that are present at birth (congenital); short stature and skin abnormalities. CFC syndrome is a dominant de novo genetic disorder caused by a sporadic gene abnormality (mutation) in one of four genes that have been termed BRAF, MAP2K1 (MEK1) and MAP2K2 (MEK2), and KRAS. Some affected individuals do not have a mutation in one of these genes, suggesting that other genes are also associated with CFC syndrome.

Introduction

CFC syndrome was first described in 1986, based on the observation of eight unrelated patients who had intellectual disability and similar abnormalities in facial appearance, skin, hair, nails and heart.

Supporting Organizations

American Heart Association

7272 Greenville Avenue
Dallas, TX 75231
Tel: (214)784-7212
Fax: (214)784-1307
Tel: (800)242-8721
Email: Review.personal.info@heart.org
Website: http://www.heart.org

Cardio-Facio-Cutaneous International (CFC)

183 Brown Road
Vestal, NY 13850
USA
Tel: (607)772-9666
Fax: (607)748-0409
Email: info@cfcsyndrome.org
Website: http://www.cfcsyndrome.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
Website: http://www.ccakids.com

Foundation for Ichthyosis & Related Skin Types

2616 N Broad Street
Colmar, PA 18915
Tel: (215)997-9400
Fax: (215)997-9403
Tel: (800)545-3286
Email: info@firstskinfoundation.org
Website: http://www.firstskinfoundation.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
Website: http://rarediseases.info.nih.gov/GARD/

Hemangioma Support System

c/o Cynthia Schumerth
1484 Sand Acres Drive
DePere, WI 54115
Tel: (920)336-9399

March of Dimes

1275 Mamaroneck Avenue
White Plains, NY 10605
Tel: (914)997-4488
Fax: (914)997-4763
Email: AskUs@marchofdimes.org or preguntas@nacersano.org
Website: http://www.marchofdimes.org and nacersano.org

NIH/National Heart, Lung and Blood Institute

P.O. Box 30105
Bethesda, MD 20892-0105
Tel: (301)592-8573
Fax: (301)251-1223
Email: nhlbiinfo@rover.nhlbi.nih.gov
Website: http://www.nhlbi.nih.gov/

NIH/National Institute of Arthritis and Musculoskeletal and Skin Diseases

Information Clearinghouse
One AMS Circle
Bethesda, MD 20892-3675
USA
Tel: (301)495-4484
Fax: (301)718-6366
Tel: (877)226-4267
Email: NIAMSinfo@mail.nih.gov
Website: http://www.niams.nih.gov/

RASopathies Network USA

244 Taos Road
Altadena, CA 91001-3953
Tel: (626)676-7694
Email: info@rasopathiesnet.org
Website: http://www.rasopathiesnet.org

The Arc

1825 K Street NW, Suite 1200
Washington, DC 20006
Tel: (202)534-3700
Fax: (202)534-3731
Tel: (800)433-5255
Email: info@thearc.org
Website: http://www.thearc.org

Vascular Birthmarks Foundation

P.O. Box 106
Latham, NY 12110
USA
Tel: (877)823-4646
Email: vbfpresident@gmail.com
Website: http://www.birthmark.org

For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders (NORD). For a full-text version of this report, 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.

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.

Last Updated:  1/28/2013
Copyright  2013 National Organization for Rare Disorders, Inc.