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The Essentials of
Cardiofaciocutaneous Syndrome (CFC)
DIAGNOSIS
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Diagnosis of this disease is usually during infancy through clinical evaluation, characteristic findings, and specialized tests. (NORD) Criteria that are observed for in patients with CFC syndrome include macrocephaly; characteristic facial features; growth retardation; cardiac defect; sparse, curly hair; neurologic impairment/developmental delay; gastrointestinal dysfunction; ocular abnormalities/dysfunction; history of polyhydramnios; and hyperkeratotic skin lesions. The multitude of different special tests are used to confirm the other syndromes of this disease, such as maladies in the brain, lungs and eyes. (NORD)
DIAGNOSTIC TESTS
Specialized tests for CFC diagnosis include MRI, computerized tomography (CT) scanning and x-ray studies for the lungs. (NORD) Clinical diagnosis is based on the presence of the characteristic clinical attributes of the disease. Another testing method is molecular genetic testing, for which multigene panel testing is preferred. (Orphanet)
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