DISEASES

Disease-gene associations mined from literature

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) ...