Cardiofaciocutaneous syndrome

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What is the life expectancy for a person with Cardiofaciocutaneous syndrome?

A person with cardiofaciocutaneous syndrome can have a normal lifespan, but this can also vary depending on the medical concerns of the affected person. On average life expectancy may be shortened due to severe heart problems that can be seen in some people with CFC. Heart problems can continue to develop overtime. It is important to continue to get lifelong care from a doctor who understands the heart problems that can be seen in CFC.

References
  • Roberts A, Allanson J, Jadico SK, et al. The cardiofaciocutaneous syndrome. Journal of Medical Genetics. 2006;43(11):833-842. doi:10.1136/jmg.2006.042796.
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Will my child with Cardiofaciocutaneous syndrome have children of their own?

My child with Cardiofaciocutenaous syndrome seems to overheat. Is this common?

Will my child with Cardiofaciocutaneous syndrome get cancer?

What are some of the skin findings in cardiofaciocutaneous syndrome?

Will my child with Cardiofaciocutaneous syndrome have children of their own?

People with cardiofaciocutaneous syndrome do not have any fertility problems that would prevent them from having children. Because CFC can have significant delays in learning and development, some people with CFC may not have children. Every person with CFC has a 50% chance to pass the genetic change along to their children. If their child gets the genetic change associated with CFC, the child would have CFC. When a person with CFC reaches reproductive age, it is important to start a conversation with your doctor about family planning and the potential benefits and/or risks. It is important also to discuss the potential risks a female with CFC can have during pregnancy including increased fluid in the uterus, heart complications and increased blood pressure. A pregnant female with CFC will need special care during her pregnancy by a speciality obstetrician called a maternal-fetal-medicine physician.

My child with Cardiofaciocutenaous syndrome seems to overheat. Is this common?

Individuals with cardiofaciocutenaous syndrome (CFC) can overheat or have problems tolerating high temperatures. This is important to remember in the warmer months. if a person with CFC seems to be overheating, it is important to get the person to cooler temperatures in a building.

Will my child with Cardiofaciocutaneous syndrome get cancer?

Currently, there is not any evidence that a person with Cardiofaciocutaneous syndrome has a increased risk for cancer. Individuals who have other types of conditions within the similar genetic pathway as CFC, do have increased risks for certain types of cancer. This has not been documented in CFC. It is important to remember that any person regardless of having CFC or not can get cancer and other medical problems. If a new problem or concern develops, it is important to tell your main doctor right away. There is not any specific screening tests for cancer that is recommended for people with CFC.

What are some of the skin findings in cardiofaciocutaneous syndrome?

A study from doctors in France looked at 45 patients with cardiofaciocutaneous syndrome and found the following skin findings.

  1. Scarcity or absence of eyebrows in 73%
  2. Wavy or curly hair in 69% of patients
  3. Keratosis pilaris (rough patches and small acne-like bumps) in 82%
  4. Ulerythema ophryogenes (inflammed skin bumps) in 44%
  5. Palmoplantar hyperkeratosis (thickened skin on soles of feet and palms of hand) in 27%
  6. Multiple melanocytic naevi (dark mole on skin; over 50 naevi) in 29% of patients
References

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