3C Syndrome

3C syndrome, also known as CCC dysplasia, Craniocerebellocardiac dysplasia or Ritscher–Schinzel syndrome, was first reported in 1987 by Ritscher and Schinzel. It is a rare condition, characterized by cardiac malformation (heart defects), cerebellar hypoplasia and cranial dysmorphism (symptoms involving the brain). Cardiac malformations encompass defects of the endocardial cushion ranging from abnormalities of the mitral or tricuspid valves to a complete atrioventricular canal, and/or conotruncal defects. The cardiac malformations are the most important symptom in the diagnosis of this disease. Cranial features include macrocephaly, a bulging forehead, prominent occiput, large anterior fontanel, ocular hypertelorism, depressed nasal bridge, downslanting palpebral fissures, cleft palate, and bifid uvula. 3C syndrome is believed to follow an autosomal recessive pattern of inheritance, though the molecular basis is unknown. Since it was first reported, at least 20 individuals with this condition. Canadian native Indians have a relatively high frequency of 3C syndrome.