What is Cardiofaciocutaneous syndrome?
Cardiofaciocutaneous (CFC) syndrome is one of the RASopathies and is a rare genetic disorder is typically characterized by unusually sparse, brittle, curly hair; relatively large head (relative macrocephaly); a prominent forehead and abnormal narrowing of the sides of the forehead (bi-temporal narrowing); intellectual …
What is the life expectancy of CFC syndrome?
Little is known about the fertility of people with the CFC syndrome. No cases are known of children born to a bona fide parent with the CFC syndrome. Life expectancy is probably shortened on average, due to the early death of those with severe cardiac involvement.
What is CFC test in medical?
Cardio-facio-cutaneous syndrome (CFC) is one of the RASopathies that bears many clinical features in common with the other syndromes in this group, most notably Noonan syndrome and Costello syndrome. CFC is genetically heterogeneous and caused by gene mutations in the Ras/mitogen-activated protein kinase pathway.
What causes Costello Syndrome?
Costello syndrome is inherited as an autosomal dominant genetic condition and is caused my mutations in the HRAS gene. Mutations in this gene result in production of an abnormal H-Ras protein that leads to continuous cell growth and division.
What is Coffin Lowry Syndrome?
Coffin-Lowry syndrome is a rare genetic disorder characterized by craniofacial (head and facial) and skeletal abnormalities, delayed intellectual development, short stature, and hypotonia.
What is Cohen syndrome?
Cohen syndrome is a fairly variable genetic disorder characterized by diminished muscle tone (hypotonia), abnormalities of the head, face, hands and feet, eye abnormalities, and non-progressive intellectual disability.
Is Costello Syndrome fatal?
Costello syndrome causes problems that affect the heart, muscles, bones, skin, brain, and spinal cord. There’s no cure for the condition, but doctors can help kids manage most symptoms.
When is Cardiofaciocutaneous Syndrome ( CFC ) diagnosed?
There may also be hypertrophic cardiomyopathy (thickening of the heart muscle) and rhythm disturbances. These defects may be diagnosed at birth or later in life. There is some form of cognitive or neurologic delay in nearly all patients with CFC syndrome.
How does cardiofaciocutaneous syndrome affect the body?
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.
What to do if you have cardiofaciocutaneous syndrome?
Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional. 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.
How to treat xerosis associated with cardiofaciocutaneous syndrome?
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: 6/5/2013