Last updated 2mo ago
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A child with sparse, curly hair, hyperkeratotic skin, and congenital heart disease has distinctive coarse facial features and moderate to severe intellectual disability.
AD (de novo); BRAF (75%), MAP2K1, MAP2K2, KRAS
- Overlap with Costello and Noonan
- Hair: Sparse, curly, slow-growing
- Skin: Hyperkeratosis, ichthyosis, keratosis pilaris
- Cardiac: Pulmonary stenosis, HCM
- Neuro: Moderate to severe ID (more severe than Noonan)
- NO papillomata or tumor risk (unlike Costello)
- Molecular confirmation of a (usually de novo) variant in BRAF, MAP2K1, MAP2K2, or KRAS, which also distinguishes CFC from Costello syndrome (HRAS) and Noonan syndrome (PTPN11)
- Clinical recognition of the ectodermal findings (sparse curly hair, hyperkeratosis), congenital heart disease, and more severe intellectual disability
- Cardiac surveillance for pulmonary valve stenosis and hypertrophic cardiomyopathy
- Aggressive nutritional and gastrointestinal support; many infants have severe feeding difficulties requiring tube feeding
- Seizure management plus developmental and educational support
- Skin and ophthalmologic care
- Unlike Costello syndrome, no tumor surveillance protocol is indicated
KardioFacioCutaneous (KFC) = KFC's BReakfast Menu: KRAS, BRAF, MAP2K1/MAP2K2.