Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues

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Cardiofaciocutaneous Syndrome (CFC) [Q87.0]

OMIM numbers: 115150, 164757 (BRAF), 615278, 190070 (KRAS), 615279, 176872 (MAP2K1), 615280, 601263 (MAP2K2)

Dr. rer. biol. hum. S. Chahrokh-Zadeh

Scientific Background

So far, approximately 100 patients suffering from cardiofaciocutaneous syndrome have been described in the literature. There is an estimated number of 200 to 300 cases worldwide; however, it is underdiagnosed. The disease belongs to the group of RASopathies and due to the phenotypical similarity differential diagnosis to the other syndromes of that spectrum is difficult in infants and toddlers. Usually, molecular genetic testing is used to confirm the diagnosis.

Characteristics such as failure to thrive, growth and intellectual disability, dysmorphic facial features (outward-sloping eyelid axis, hypertelorism, high forehead), pigment changes, anomalies of the gastrointestinal tract and the central nervous system, cardiac defects and thoracic deformities may be accompanied by ectodermal signs in the form of thin hair and nail hypoplasia. Adults exhibit dry, hyperkeratotic skin with palmoplantar hyperkeratosis. So far, an increased predisposition for malignant diseases has not been observed.

The cardiofaciocutaneous syndrome is genetically heterogenous. The four genes BRAF, KRAS, MAP2K1 and MAP2K2 may cause CFC (frequency distribution see chapter RASopathies).