Noonan syndrome - Symptoms and causes - Mayo Clinic
WebMay 25, 2023 · 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
WebNoonan syndrome (NS) is a genetic disorder that may present with mildly unusual facial features, short height, congenital heart disease, bleeding problems, and skeletal malformations. Facial features include widely spaced eyes, light-colored eyes, low-set ears, a short neck, and a small lower jaw.
Noonan syndrome - UpToDate
WebJun 13, 2022 · 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
WebJan 9, 2023 · Continuing Education Activity. 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 - Genetic and Rare Diseases Information Center
WebSummary. Noonan syndrome is a genetic disorder that causes abnormal development of multiple parts of the body. Features of Noonan syndrome may include a distinctive facial appearance, short stature, a broad or webbed neck, congenital heart defects, bleeding problems, problems with bone structure (skeletal malformations), and developmental delay.
努南综合征（Noonan）的前世今生 - 知乎 - 知乎专栏
Web努南综合征（Noonan）的前世今生 - 知乎. 伊宁. 广州医科大学 临床医学硕士. 大约据今60年之前，也就是1962年左右，一个叫Noonan的美国儿科医学博士在她的门诊中发现小孩群体中有这样一上群体：1）眼距宽、内眦赘皮、眼睑下垂并下斜，招风耳、双耳位置低，短颈、颈；2）身材矮、盾胸、鸡胸、漏斗胸、肘外翻、骨龄落后；3）他们少部分人当中有智力低下，斜视及屈光不正；4）女性患者可有青春期延迟，卵巢功能和第二性征发育基本正常； …
Noonan Syndrome | Children's Hospital of Philadelphia
WebNoonan 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 Genetics
WebNoonan 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.
Orphanet: Noonan syndrome
WebNoonan syndrome. Suggest an update. Disease definition. A rare, highly variable, multisystemic disorder mainly characterized by short stature, distinctive facial features, congenital heart defects, cardiomyopathy and an increased risk to develop tumors in childhood. ORPHA:648. Classification level: Disorder. Prevalence: 1-5 / 10 000.
Noonan syndrome - Diagnosis and treatment - Mayo Clinic
WebMay 25, 2023 · A doctor typically diagnoses Noonan syndrome after seeing some key signs. But this can be difficult because some features of the condition are not easily seen and are hard to find. Sometimes Noonan syndrome is not found until adulthood, after a person has a child who is more clearly affected by the condition.
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