Cardiofaciocutaneous syndrome

5 Interesting Facts of Cardiofaciocutaneous syndrome

  1. Most commonly caused by heterozygous mutation involving the BRAF gene
    • Also may be caused by gain-of-function mutations in KRAS, MEK1, or MEK2 genes 
  2. Some phenotypic manifestations closely resemble Noonan phenotype, such as dysmorphic facial features, cardiac defects (pulmonic stenosis, septal defects, hypertrophic cardiomyopathy), and intellectual disability 
  3. Some subtle phenotypic differences in manifestations:
    • Blue eyes are more common in patients with Noonan syndrome; broader longer face; coarser facial features; rounder, more bulbous nasal tip and wider nasal base are more suggestive of cardiofaciocutaneous syndrome 
    • Florid, severe cutaneous findings (eg, follicular keratosis; sparse eyebrows and lashes; ichthyosis) are more suggestive of cardiofaciocutaneous syndrome 
    • Most infants with cardiofaciocutaneous syndrome have severe and often long-lasting feeding difficulties, whereas infants who have Noonan syndrome have self-limited feeding difficulties 
    • Central nervous system structural abnormalities are much more common in patients with cardiofaciocutaneous syndrome 
    • Bleeding diathesis is rare in patients with cardiofaciocutaneous syndrome, but common in patients with Noonan syndrome 
    • Most patients with cardiofaciocutaneous syndrome develop moderate intellectual disability as opposed to mild or minimal intellectual disability noted in patients with Noonan syndrome 
  4. Differentiate by clinical presentation, clinical diagnostic criteria, and lack of pathogenic genetic variant associated with Noonan syndrome
  5. Diagnosis is largely based on clinical criteria; mutation analysis identifying distinct pathogenic variants associated with cardiofaciocutaneous syndrome may assist in definitive diagnosis

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