Human genes for Noonan syndrome
Noonan syndrome [DOID:3490]
Noonan Syndrome (NS) is a relatively common autosomal dominant congenital disorder considered to be a type of dwarfism, that affects both males and females equally:550. It used to be referred to as the male version of Turner's syndrome (and is still sometimes described in this way); however, the genetic causes of Noonan syndrome and Turner syndrome are distinct. The principal features include congenital heart defect (typically pulmonary valve stenosis)also ASD,& HOCM, short stature, learning problems, pectus excavatum, impaired blood clotting, and a characteristic configuration of facial features including a webbed neck and a flat nose bridge. The syndrome is named after Dr. Jacqueline Noonan. It is a RASopathy.
Synonyms: Noonan syndrome, DOID:3490, Noonan disease, Noonan disorder, Turner's phenotype, karyotype normal (disorder) ...