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Noonan syndrome: MedlinePlus Genetics
Noonan syndrome is a condition that affects many areas of the body. Explore symptoms, inheritance, genetics of this condition.
Noonan Syndrome - GeneReviews® - NCBI Bookshelf
2001年11月15日 · A study of 37 individuals with a molecular genetic diagnosis of Noonan syndrome demonstrated a higher incidence of emotional dysregulation, irritability, and anxiety symptomatology compared to the general population [Alfieri et al 2021].
Noonan Syndrome - StatPearls - NCBI Bookshelf
2023年1月9日 · Noonan syndrome is a genetically inherited disease with heterogeneous, phenotypic manifestations. Gene mutations involve the RAAS/MAPK (mitogen-activated protein kinase) signaling pathway. The patient presentation can range from mild to severe.
About Noonan Syndrome - National Human Genome Research …
2013年12月23日 · Noonan syndrome is inherited in families in an autosomal dominant pattern. This means that a person who has Noonan syndrome has one copy of an altered gene that causes the disorder. In about one-third to two-thirds of families one of the parents also has Noonan syndrome.
Noonan syndrome - Symptoms and causes - Mayo Clinic
2023年5月25日 · Noonan syndrome is a genetic condition that stops typical development in various parts of the body. It can affect a person in several ways, including unusual facial features, short height, heart problems and other physical problems.
Noonan syndrome | About the Disease | GARD - Genetic and …
Noonan syndrome is caused by genetic mutations, also known as pathogenic variants. Genetic mutations can be hereditary, when parents pass them down to their children, or they may occur randomly when cells are dividing.
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. [1] . Facial features include widely spaced eyes, light-colored eyes, low-set ears, a …
Noonan Syndrome (Leopard Syndrome): Causes & Outlook - Cleveland Clinic
Noonan syndrome is a genetic condition that can affect many parts of your child’s body. While symptoms vary widely, they most often include unusual facial features, short stature and heart problems. Early detection and treatment can ease symptoms and prevent complications.
Noonan syndrome: genetic and clinical update and treatment options
2020年7月1日 · NS is a clinically and genetically heterogeneous condition, with variable expressivity and a changing phenotype with age, and affects multiple organs and systems.
Noonan Syndrome - Children's Hospital of Philadelphia
Noonan syndrome is a genetic disorder characterized by short stature, distinctive facial features, heart defects, bleeding problems and skeletal abnormalities. Most individuals with Noonan syndrome have normal intelligence, but some may have special educational needs or …