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Don’t fight Cardiofaciocutaneous syndrome alone.
Find your community on the free RareGuru App.Cardiofaciocutaneous (CFC) syndrome is a disorder that affects many parts of the body, particularly the heart, face, skin, and hair. People with this condition also have developmental delay and intellectual disability, usually ranging from moderate to severe. The signs and symptoms of CFC syndrome overlap significantly with those of two other conditions, Costello syndrome and Noonan syndrome. These syndromes belong to a group of related conditions called the RASopathies, which are distinguished by their genetic causes and specific pattern of features. It can sometimes be hard to tell these conditions apart in infancy. CFC syndrome is usually caused by a mutation in the BRAF _gene, but can also be due to a mutation in the MAP2K1 , MAP2K2 or KRAS _gene. It is an autosomal dominant condition, but most cases are not inherited, due to a new mutation that occurs for the first time in an affected person. Treatment depends on the symptoms in each person and may include surgery for heart defects.
Source: GARD Last updated on 05-01-20
Livelihood is significantly affected by cardiofaciocutaneous (CFC) syndrome. Nearly all individuals with CFC syndrome have intellectual disability or learning problems, ranging from moderate to severe. There are rare reports of individuals with CFC syndrome who have normal intelligence. Because CFC syndrome may also cause muscles to be weak (hypotonia), learning to perform routine movements and tasks can be challenging. Though some individuals with CFC are able to participate in assisted living communities as adults, most require continuous care by a team of providers. The CFC International organization has created a booklet called "A Parent's Guide to the Cardio-Facio-Cutaneous Syndrome: Caring, Facilitating & Connecting" that provides more detailed information about the impact of CFC syndrome.
Last updated on 05-01-20
Xerosis (dry skin) and pruritus (itching) associated with cardiofaciocutaneous syndrome may be relieved by increasing the amount of moisture in the air or by using hydrating lotions. If signs of infection develop, treatment with antibiotics may be necessary.
Last updated on 05-01-20
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