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 - 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 - 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.
Noonan Syndrome (Leopard Syndrome): Causes & Outlook - Cleveland Clinic
2023年1月27日 · 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. What is Noonan syndrome?
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 intellectual disability. Noonan syndrome occurs in about 1 in 2,500 births.
Noonan syndrome - MedlinePlus
Noonan syndrome is a condition that affects many areas of the body. It is characterized by mildly unusual facial features, short stature, heart defects, bleeding problems, skeletal malformations, and many other signs and symptoms.
About Noonan Syndrome - National Human Genome Research …
2013年12月23日 · Noonan syndrome is a disorder that involves unusual facial characteristics, short stature, heart defects present at birth, bleeding problems, developmental delays, and malformations of the bones of the rib cage. Noonan syndrome is caused by changes in one of several autosomal dominant genes.
Noonan Syndrome - Symptoms, Causes, Treatment | NORD
2019年8月21日 · Noonan syndrome with multiple lentigines (NSML, formerly known as LEOPARD syndrome) is a rare inherited disorder characterized by abnormalities of the skin, the structure and function of the heart, the inner ear, the head and facial (craniofacial) area, and/or the genitals.
Noonan Syndrome: Symptoms, Diagnosis, Treatment, and More - Healthline
2022年4月29日 · Noonan syndrome is a genetic disorder. It may occur randomly or be inherited from a parent. We explain symptoms, diagnosis, treatment, and more.
Noonan syndrome - NHS
Noonan syndrome is a genetic condition that can cause a wide range of distinctive features and health problems. The condition is present from before birth, although milder cases may not be diagnosed until a child gets older.
- 某些结果已被删除