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