Itroduction: Cardio-Facio-Cutaneous (CFC) syndrome is a rare disease characterized by congenital heart diseases (CHD), facial abnormalities and cutaneous manifestations. Severe phenotypes of CFC syndrome have feeding abnormality and severe mental retardation in addition to classic organ involvements. Milder phenotypes have good mental and gastrointestinal functions, so their CHD are the main prognostic factor. We describe here two patients of CFC syndrome.

Case Presentations: The first patient was a 10-year-old boy with wide-spread biopsy-proven keratosis pilaris, flexion deformities of both knees requiring several surgeries and of fingers and toes, sparse scalp hair, nail dystrophy, and supra-orbital ridge hypoplasia. His CHD consisted of severe valvar aortic stenosis and closed patent ductus arteriosus. His parents refused any cardiac surgery or intervention.
The second case was a 9-year-old girl with wide-spread biopsy-proven keratosis pilaris, growth retardation, and sparse scalp hair. She had subaortic membranous stenosis leading to severe aortic regurgitation. She had two cardiac surgeries: subaortic membrane resection and Ross operation. None of the patients had neurologic, mental or gastrointestinal manifestations.

Discussion: Association of CFC syndrome with many congenital heart diseases has been reported but not yet with valvar or subvalvar aortic stenoses. Cutaneous manifestations of CFC syndrome are diverse, among them keratosis pilaris involving the skin of trunk and extremities is characteristic.