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 short neck, and a small lower jaw. [1]
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 (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. Contents Overview Symptoms and Causes Diagnosis and Tests Management ...
Noonan syndrome - UpToDate
2022年6月13日 · Noonan syndrome (NS) is a common autosomal-dominant condition that is associated with short stature and congenital heart disease (CHD), most often pulmonic stenosis. It is clinically and genetically heterogeneous.
Noonan Syndrome - StatPearls - NCBI Bookshelf
2023年1月9日 · Noonan syndrome is typically a genetically inherited disorder with heterogeneous phenotypic manifestations that can change with age. The most consistent features are wide-set eyes, low-set ears, short stature, and pulmonic stenosis. Noonan syndrome is typically inherited in an autosomal dominant manner.
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.
Noonan syndrome - Diagnosis and treatment - Mayo Clinic
2023年5月25日 · Although there's no cure for Noonan syndrome, treatments can help decrease its effects. The earlier a diagnosis is made and treatment begins, the greater the benefits. Treatment for Noonan syndrome depends on the symptoms and complications and …
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 …
Noonan syndrome - Symptoms, diagnosis and treatment - BMJ …
2021年10月14日 · Noonan syndrome is a relatively common, autosomal-dominant inherited disorder. Characteristic phenotype includes short stature, chest deformity, congenital heart defects, and unusual facial features. Boys frequently present with cryptorchidism and manifest delayed puberty.
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