What is the prevalence of Cardiofaciocutaneous / Cfc Syndrome?
How many people does Cardiofaciocutaneous / Cfc Syndrome affect? Does it have the same prevalence in men and women? And in the different countries?
Cardiofaciocutaneous (CFC) syndrome is a rare genetic disorder characterized by various developmental abnormalities affecting the heart, face, and skin. It is estimated to affect approximately 1 in 810,000 to 1 in 1,000,000 individuals worldwide. CFC syndrome is caused by mutations in specific genes involved in cell signaling pathways. The condition presents with distinctive facial features, heart defects, intellectual disability, and skin abnormalities. Due to its rarity, CFC syndrome often goes undiagnosed or misdiagnosed. Early recognition and appropriate management are crucial for individuals with CFC syndrome to optimize their quality of life.
Cardiofaciocutaneous (CFC) syndrome is a rare genetic disorder that affects multiple systems in the body. It is characterized by distinctive facial features, heart abnormalities, skin abnormalities, and developmental delays. The prevalence of CFC syndrome is estimated to be around 1 in 810,000 to 1 in 1,000,000 individuals.
CFC syndrome is caused by mutations in several genes, including BRAF, MAP2K1, MAP2K2, and KRAS. These genes are involved in the RAS/MAPK signaling pathway, which plays a crucial role in cell growth and division. Mutations in these genes disrupt the normal functioning of the pathway, leading to the characteristic features and symptoms of CFC syndrome.
Due to its rarity, CFC syndrome often goes undiagnosed or misdiagnosed. The condition affects both males and females of all ethnic backgrounds. The severity of symptoms can vary widely among individuals with CFC syndrome, even among affected family members.
Early intervention and management of symptoms are important for individuals with CFC syndrome. A multidisciplinary approach involving various specialists, such as geneticists, cardiologists, dermatologists, and developmental pediatricians, is typically required to provide comprehensive care.
