Cardiofaciocutaneous syndrome

Cardiofaciocutaneous syndrome is a disorder that affects many parts of the body, particularly the heart (cardio-), facial features (facio-), and the skin and hair (cutaneous). People with this condition also have delayed development and intellectual disability, usually ranging from moderate ...1

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Symptoms of Cardiofaciocutaneous syndrome

Symptoms: The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. Signs and Symptoms

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Types of Cardiofaciocutaneous syndrome

Some types of this condition may include:2 Types of cardiofaciocutaneous syndrome:

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Genetics of Cardiofaciocutaneous syndrome

Genetic Changes: Cardiofaciocutaneous syndrome can be caused by mutations in several genes. Mutations in the BRAF gene are most common, accounting for 75 to 80 percent of all cases. Another 10 to 15 percent of cases result from mutations in ...3

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Treatments: Cardiofaciocutaneous syndrome

Treatment: 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.[2] ...4

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Names and Terminology

Other Names for This Condition

Source: GHR (NLM/NIH)5 ...

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References

  1. Source: GHR (NLM/NIH): ghr.nlm.nih.gov/ condition/ cardiofaciocutaneous-syndrome
  2. Source: NCI Thesaurus
  3. Source: GHR (NLM/NIH): ghr.nlm.nih.gov/ condition/ cardiofaciocutaneous-syndrome
  4. Source: GARD (NIH): rarediseases.info.nih.gov/ diseases/ 9146/ cardiofaciocutaneous-syndrome
  5. Source: GHR (NLM/NIH): ghr.nlm.nih.gov/ condition/ cardiofaciocutaneous-syndrome

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