Cardiofaciocutaneous syndrome in Adult
The worldwide prevalence of CFC is unknown. Men and women are equally affected.
CFC is characterized by a distinctive craniofacial appearance, cutaneous abnormalities, congenital heart defects, growth retardation, and intellectual disability.
Q87.19 – Other congenital malformation syndromes predominantly associated with short stature
403770008 – Cardio-facio-cutaneous syndrome
Differential Diagnosis & Pitfalls
- Noonan syndrome – More frequent easy bleeding and bruising, fewer cutaneous features, caused by mutations in PTPN11.
- Costello syndrome – Papillomata of the face or perianal regions, multifocal atrial tachycardia, ulnar deviation of wrist and fingers, caused by mutations in HRAS.
- Noonan syndrome with multiple lentigines (formerly LEOPARD syndrome) – Multiple skin lentigines, frequent sensorineural deafness, cardiac conduction abnormalities, caused by mutations in PTPN11.
- Baraitser-Winter syndrome – Iris coloboma, lissencephaly, pachygyria, aortic valve abnormalities, caused by mutations in ACTB or ACTG1.
- Noonan syndrome with loose anagen hair – Mitral valve dysplasia, associated with mutations in SHOC2.