Clinical manifestations of Noonan syndrome

Abstract

Noonan syndrome is a common genetic disorder characterized by facial anomalies, congenital heart defect, short stature, webbed neck, chest deformities and undescended testes. The phenotypic expression of Noonan syndrome is extremely variable, with some affected subjects showing only minor features of the syndrome. Cardiac malformations are also heterogeneous. Pulmonary stenosis, with or without dysplastic pulmonary valve and hypertrophic cardiomyopathy, are the “classic” cardiac defects reported in Noonan syndrome. However, atrial septal defect, atrioventricular septal defect, left-sided obstructive lesions, tetralogy of Fallot and patent ductus arteriosus have also been described. Autosomal dominant inheritance has been documented in some families, although many cases appear to be sporadic. The diagnosis of Noonan syndrome is at present purely clinical, because a “diagnostic” test is not available. Indeed, although a gene for Noonan syndrome has been recently mapped by linkage analysis to chromosome 12q, the gene or genes of the syndrome have not been yet cloned.