Cardio-facio-cutaneous syndrome (CFCS)
Evidence-based neurology checklist on cardio-facio-cutaneous syndrome (cfcs): Causative sporadic genetic mutations BRAF KRAS MEK1 MEK2 SOS1 Pathology Dysmorphic features Neurological features Cutaneous features Ophthalmic features Cardiac features Gastrointestinal features Other features…
Causative sporadic genetic mutations
- BRAF
- KRAS
- MEK1
- MEK2
- SOS1
Pathology
Dysmorphic features
Neurological features
Cutaneous features
Ophthalmic features
Cardiac features
Gastrointestinal features
Other features
Differential diagnosis
Magnetic resonance imaging (MRI) brain: features
References
- Roberts A, Allanson J, Jadico SK, et al. The cardiofaciocutaneous syndrome. J Med Genet 2006; 43:833-842.
- Tartaglia M, Gelb BD, Zenker M. Noonan syndrome and clinically related disorders. Best Pract Res Clin Endocrinol Metab 2011; 25:161-179.
- Narumi Y, Aoki Y, Niihori T, et al. Clinical manifestations in patients with SOS1 mutations range from Noonan syndrome to CFC syndrome. J Hum Genet 2008; 53:834-841.
- Aeby A, Sznajer Y, Cavé H, et al. Cardiofaciocutaneous (CFC) syndrome associated with muscular coenzyme Q10 deficiency. J Inherit Metab Dis 2007; 30:827.
- Tidyman WE, Lee HS, Rauen KA. Skeletal muscle pathology in Costello and cardio-facio-cutaneous syndromes: developmental consequences of germline Ras/MAPK activation on myogenesis. Am J Med Genet C Semin Med Genet 2011; 157C:104-114.
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