Cardiofaciocutaneous Syndrome Symptoms, Causes and Treatment News

What is Cardiofaciocutaneous Syndrome – CFC? (Definition)

(Symptoms, Causes & Treatment)

According to the U.S. National Library of Medicine, cardiofaciocutaneous (CFC) syndrome is identified by cardiac abnormalities which include pulmonic stenosis and other valve dysplasias, septal defects, hypertrophic cardiomyopathy, rhythm disturbances. There is also a distinctive craniofacial appearance, and cutaneous abnormalities (including xerosis, hyperkeratosis, ichthyosis, keratosis pilaris, ulerythema ophryogenes, eczema, pigmented moles, hemangiomas, and palmoplantar hyperkeratosis). In individuals affected by this syndrome, the hair is typically sparse, curly, fine or thick, woolly or brittle, while eyelashes and eyebrows may be absent or sparse. Nails may be dystrophic or fast growing. Some form of neurologic and/or cognitive delay is seen in all affected individuals. Neoplasia, mostly acute lymphoblastic leukemia (ALL), has been reported in some individuals.

National Library of Medicine

See below for updated news and information regarding Cardiofaciocutaneous Syndrome including new medical research, treatment options and advancements. 

Latest Cardiofaciocutaneous Syndrome Research – Treatment News, Discoveries and Findings

No recent news regarding Cardiofaciocutaneous Syndrome is available. 

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Clinical Trials – Investigational Therapies

For information on current clinical trials, visit www.clinicaltrials.gov. This is a searchable registry and results database of federally and privately supported clinical trials taking place in the U.S and abroad. ClinicalTrials.gov provides information about a trial’s purpose, who may participate, locations, and phone numbers. This information should be used in conjunction with advice from health care professionals.

For information about clinical trials being conducted at the National Institutes of Health (NIH) Clinical Center in Bethesda, MD, contact the NIH Patient Recruitment Office:

Toll Free: (800) 411-1222
TTY: (866) 411-1010
Email: prpl@mail.cc.nih.gov

For information about clinical trials conducted in Europe, visit: https://www.clinicaltrialsregister.eu/ctr-search/search

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