Cardiofaciocutaneous Syndrome / Disease

Diseases & Conditions

A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Cardiofaciocutaneous Syndrome

Synonyms of Cardiofaciocutaneous Syndrome

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

Disorder Subdivisions

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.

Organizations related to Cardiofaciocutaneous Syndrome

American Heart Association
National Center
Dallas TX 75231-4596
Phone #: 214-373-6300
800 #: 800-242-8721
e-mail: [email protected]
Home page: http://www.americanheart.org
Cardio-Facio-Cutaneous International
183 Brown Rd.
Vestal NY 13850
Phone #: 607-772-9666
800 #: --
e-mail: [email protected]
Home page: http://www.cfcsyndrome.org
Children's Craniofacial Association
13140 Coit Road
Dallas TX 75240
Phone #: 214-570-9099
800 #: 800-535-3643
e-mail: [email protected]
Home page: http://www.ccakids.com
Congenital Heart Anomalies, Support, Education, & Resources
2112 North Wilkins Road
Swanton OH 43558
Phone #: 419-825-5575
800 #: --
e-mail: [email protected]
Home page: http://www.csun.edu/~hcmth011/chaser/chaser-news.html
Forward Face, Inc.
317 East 34th Street
New York NY 10016
Phone #: 212-684-5860
800 #: 800-393-3223
e-mail: [email protected]
Home page: http://www.forwardface.org
Foundation for Ichthyosis & Related Skin Types
1364 Welsh Road G2
North Wales PA 19454
Phone #: 215-619-0670
800 #: 800-545-3286
e-mail: [email protected]
Home page: http://www.scalyskin.org
Hemangioma Support System
c/o Cynthia Schumerth
DePere WI 54115
Phone #: 920-336-9399
800 #: --
e-mail: N/A
Home page: N/A
March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains NY 10605
Phone #: 914-428-7100
800 #: 888-663-4637
e-mail: [email protected]
Home page: http://www.marchofdimes.com
NIH/National Arthritis and Musculoskeletal and Skin Diseases Information Clearinghouse
1 AMS Circle
Bethesda MD 20892-3675
Phone #: 301-495-4484
800 #: 877-226-4267
e-mail: [email protected]
Home page: http://www.niams.nih.gov/Health_Info
NIH/National Heart, Lung and Blood Institute Information Center
P.O. Box 30105
Bethesda MD 20824-0105
Phone #: 301-592-8573
800 #: --
e-mail: [email protected]
Home page: N/A
National Craniofacial Foundation
3100 Carlisle Street
Dallas TX 75204
Phone #: --
800 #: 800-535-3643
e-mail: N/A
Home page: N/A
The Arc (a national organization on mental retardation)
1010 Wayne Ave
Silver Spring MD 20910
Phone #: 301-565-3842
800 #: 800-433-5255
e-mail: [email protected]
Home page: http://www.thearc.org/
Vascular Birthmarks Foundation
P.O. Box 106
Latham NY 12110
Phone #: N/A
800 #: 877-823-4646
e-mail: [email protected]
Home page: http://www.birthmark.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