Cardio-facio-cutaneous syndrome (Q83090)

Cardiofaciocutaneous (CFC) syndrome is a multiple congenital anomalies/mental retardation (MCA/MR) syndrome characterised by psychomotor delay, muscular hypotonia, feeding problems, short stature, relative macrocephaly, typical face, ectodermal abnormalities consisting typically of sparse and curly hair, absent eyebrows, ulerythema ophryogenes and congenital heart defects (mainly pulmonic stenosis, atrial septal defects and hypertrophic cardiomyopathy).