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Condition

Noonan Syndrome

Congenital Malformations and Chromosomal Abnormalities

Noonan syndrome is a genetic disorder, one of a family of conditions called RASopathies, most commonly caused by mutations in the PTPN11 gene that disrupt a cell signaling pathway involved in growth and development. It typically produces short stature, distinctive facial features, a broad or webbed neck, and congenital heart defects, most often narrowing of the pulmonary valve. American pediatric cardiologist Jacqueline Noonan described the condition in the early 1960s, identifying it as a distinct syndrome separate from Turner syndrome, which it can superficially resemble.

Facts
Classification
Body System
Skeletal System 1
Body System
Cardiovascular System 1
Body System
Lymphatic or Immune System 1
Body System
Respiratory System 1
ICD-10 Chapter
XVII: Congenital Malformations, Deformations and Chromosomal Abnormalities 2
Communicable or Non-communicable
Non-Communicable 3
Transmission Route
Non-Transmissible 1
First Described
1963 1
The name "Noonan syndrome" became officially recognized later, in 1971; 1963 is recorded here as the article's own credited year of the first descriptive paper.
Causative Agent
Causative Agent (category)
Genetic / Hereditary 1
Sources
1. Wikipedia: Noonan syndrome
Wikipedia
  • 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.
  • Wikipedia: Noonan Syndrome, History section
    After examining 833 children with the syndrome, in 1963 presented a paper: "Associated non-cardiac malformations in children with congenital heart disease".
  • Lead section, body-system statement
    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.
  • Lead section, transmission-route statement
    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.
  • Lead section, body-system statement (cardiovascular)
    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.
  • Lead section, body-system statement (respiratory)
    Heart problems may include pulmonary valve stenosis.
  • Lead section, body-system statement (lymphatic-immune)
    Complications of NS can include leukemia.
View the Source
2. Wikipedia: ICD-10
WikipediaList of chapters, Chapter XVII
Quote, List of chapters, Chapter XVII
Congenital malformations, deformations and chromosomal abnormalities
View the Source
3. Wikipedia: Non-communicable disease
WikipediaInherited/genetic diseases section
Quote, Inherited/genetic diseases section
Genetic disorders are caused by errors in genetic information that produce diseases in the affected people.
View the Source
Wikidata: Noonan Syndrome
Wikidata Q1543446, class allow-list match (w-wdresolver-0926)View the Source
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