Cardio-facio-cutaneous (CFC) syndrome is characterized by cardiac defects, ectodermal abnormalities, developmental delay and facial dysmorphism. The ectodermal findings include sparse, slow-growing, curly hair, dry skin or ichthyosis, hyperkeratosis of the palms and soles, keratosis pilaris, eczema, hemangiomas, and hyperelastic skin. Typical dysmorphic features are macrocephaly, prominent forehead, hypertelorism, bitemporal constriction, posteriorly rotated ears, short bulbous nose with anteverted nares, hypoplastic supraorbital ridges, ptosis, and downslanting palpebral fissures. Webbing of the neck is seen in half the patients and cryptorchidism is observed in 43% of affected males. Ninety percent of patients have mental retardation (MR) ranging from mild to severe, with the majority having moderate MR. Short stature and postnatal growth deficiency are seen in 80% of patients, and failure to thrive is a common manifestation in early life. Congenital heart defects, the most frequent of which are pulmonic stenosis, atrial septal defects and hypertrophic cardiomyopathy, are seen in 80% of affected individuals.