Cardiofaciocutaneous Syndrome

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

Synonyms

Cardio-facial-cutaneous syndrome
CFC syndrome
Facio-cardio-cutaneous syndrome

Disorder Subdivisions

None

General Discussion

Cardiofaciocutaneous (CFC) syndrome is a rare genetic disorder first described in 1986, based on the observation of eight unrelated patients with very similar facial appearance characterized by unusually sparse, brittle, curly hair; large head (macrocephaly); a prominent forehead and abnormal narrowing of the sides of the forehead (bitemporal constriction); mental retardation; failure to thrive; heart defects that are present at birth (congenital); short stature and skin abnormalities. CFC syndrome is a dominant genetic disorder caused by a sporadic gene abnormality (mutation) in one of three genes that have been termed BRAF, MEK1 and MEK2. . Some affected individuals do not have a mutation in one of these genes, suggesting that other genes are also associated with CFC.

Resources

Children's Craniofacial Association
13140 Coit Road
Suite 517
Dallas
TX
75240
USA
Tel: (214)570-9099
Fax: (214)570-8811
800: (800)535-3643
csmith@ccakids.com
http://www.ccakids.com

March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains
NY
10605
Tel: (914)428-7100
Fax: (914)997-4763
800: (888)663-4637
Askus@marchofdimes.com
http://www.marchofdimes.com

Foundation for Ichthyosis & Related Skin Types
1364 Welsh Road G2
North Wales
PA
19454
Tel: (215)619-0670
Fax: (215)619-0780
800: (800)545-3286
info@scalyskin.org
http://www.scalyskin.org

The Arc (a national organization on mental retardation)
1010 Wayne Ave
Suite 650
Silver Spring
MD
20910
Tel: (301)565-3842
Fax: (301)565-3843
800: (800)433-5255
TDD: (817)277-0553
info@thearc.org
http://www.thearc.org/

Forward Face, Inc.
317 East 34th Street
Room 901
New York
NY
10016
Tel: (212)684-5860
Fax: (212)684-5864
800: (800)393-3223
info@forwardface.org
http://www.forwardface.org

American Heart Association
National Center
7272 Greenville Avenue
Dallas
TX
75231-4596
Tel: (214)373-6300
Fax: (214)373-0268
800: (800)242-8721
inquire@heart.org
http://www.americanheart.org

Congenital Heart Anomalies, Support, Education, & Resources
2112 North Wilkins Road
Swanton
OH
43558
Tel: (419)825-5575
Fax: (419)825-2880
chaser@compuserve.com
http://www.csun.edu/~hcmth011/chaser/chaser-news.html

National Craniofacial Foundation
3100 Carlisle Street
Suite 215
Dallas
TX
75204
800: (800)535-3643NIH/National Arthritis and Musculoskeletal and Skin Diseases Information Clearinghouse
1 AMS Circle
Bethesda
MD
20892-3675
USA
Tel: (301)495-4484
Fax: (301)718-6366
800: (877)226-4267
TDD: (301)565-2966
NIAMSinfo@mail.nih.gov
http://www.niams.nih.gov/Health_Info

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
nhlbiinfo@rover.nhlbi.nih.govHemangioma Support System
c/o Cynthia Schumerth
1484 Sand Acres Drive
DePere
WI
54115
Tel: (920)336-9399Vascular Birthmarks Foundation
P.O. Box 106
Latham
NY
12110
USA
800: (877)823-4646
hvbf@aol.com
http://www.birthmark.org

Cardio-Facio-Cutaneous International
183 Brown Rd.
Vestal
NY
13850
USA
Tel: (607)772-9666
Fax: (607)748-0409
info@cfcsyndrome.org
http://www.cfcsyndrome.org

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

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 orphan@rarediseases.org

Last Updated: 9/24/2007
Copyright 1992, 1998, 1999, 2002, 2006, 2007 National Organization for Rare Disorders, Inc.

WebMD Medical Reference from the National Organization of Rare Disorders

Last Updated: September 24, 2007

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