Santome, liliana galbis, begona ezquieta laboratorio diagnostico molecular. All structured data from the file and property namespaces is available under the creative commons cc0 license. Noonan syndrome ns is a genetic disorder that may present with mildly unusual facial features, short height, congenital heart disease, bleeding problems, and skeletal malformations. Cardinal features include postnatally reduced growth, distinctive facial dysmorphism, congenital heart defects and hypertrophic cardiomyopathy, variable cognitive deficit and skeletal, ectodermal and hematologic anomalies. Noonan syndrome is a common genetic disorder that causes multiple congenital abnormalities and a large number of potential health conditions. Noonan syndrome is one of a group of related conditions, collectively known as rasopathies. All structured data from the file and property namespaces is available under the.
Noonan syndrome is a common genetic disorder of autosomal dominant origin. Noonan syndrome is a relatively common, clinically variable developmental disorder. The range and severity of features can vary greatly in patients with ns, therefore, establishing a diagnose is difficult. Noonan syndrome depends on the age and penetrance in each individual. Most affected individuals have characteristic facial. Paternal germline origin and sex ratio distortion in transmission of. Aug 22, 2018 noonan syndrome is one of a group of related conditions, collectively known as rasopathies.