Cardiofaciocutaneous Syndrome

National Organization for Rare Disorders, Inc.

Important
It is possible that the main title of the report Cardiofaciocutaneous 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.

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
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

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

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

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

American Heart Association
7272 Greenville Avenue
Dallas, TX 75231-4596
Tel: (214)373-6300
Fax: (214)373-0268
Tel: (800)242-8721
Email: Review.personal.info@heart.org
Internet: http://www.americanheart.org

Congenital Heart Anomalies, Support, Education, & Resources, Inc. (CHASER, Inc.)
2112 North Wilkins Road
Swanton, OH 43558
USA
Tel: (419)825-5575
Fax: (419)825-2880
Email: myer106w@wonder.em.cdc.gov
Internet: http://www.csun.edu/~hcmth011/chaser/chaser-news.html

NIH/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
Tel: (877)226-4267
TDD: (301)565-2966
Email: NIAMSinfo@mail.nih.gov
Internet: 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
Email: nhlbiinfo@rover.nhlbi.nih.gov

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

Vascular Birthmarks Foundation
P.O. Box 106
Latham, NY 12110
USA
Tel: (877)823-4646
Email: hvbf@aol.com
Internet: http://www.birthmark.org

Cardio-Facio-Cutaneous International
183 Brown Rd.
Vestal, NY 13850
USA
Tel: (607)772-9666
Fax: (607)748-0409
Email: info@cfcsyndrome.org
Internet: http://www.cfcsyndrome.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
Email: ordr@od.nih.gov
Internet: http://rarediseases.info.nih.gov/Default.aspx

For a Complete Report

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

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