2001年11月15日 · Noonan syndrome (NS) is characterized by characteristic facies, short stature, congenital heart defect, and developmental delay of variable degree.

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. Thus, Noonan syndrome is typically a clinical diagnosis.

努南氏症候群 （Noonan syndrome）為一相對常見的 常染色體 显性 遺傳疾病，該病得名自小兒心臟科醫生 賈桂琳·努南 [1][2]。 該病的症狀類似 透納氏症，但可能發生於男性及女性。 努南氏症候群常有 先天性心臟病，包含肺動脈瓣縮窄、肺動脈瓣發育異常、 心房中隔缺损，及 肥大性心肌病變 （英语：hypertrophic cardiomyopathy） 等等。 另外還有身材矮小、認知障礙、 漏斗胸 、 凝血 異常、蹼狀頸，以及塌鼻樑。 本疾病屬於 RAS蛋白家族病變 （英语：RASopathy） 的一 …

Wat is het syndroom van Noonan? Het syndroom van Noonan is een erfelijke aangeboren aandoening waarbij kinderen een kleine lengte hebben in combinatie met typische uiterlijke kenmerken en vaak in combinatie met een aangeboren hartafwijking. Hoe wordt het Noonan syndroom ook wel genoemd?

Noonan综合征 (Noonan syndrome，NS)1968年由Jacqueline Noonan首次报道，曾被认为是一类常染色体显性遗传病，但也有少数病例呈常染色体隐性遗传 [1, 2]。 国外报道NS在活产儿中的发病率为1/2500～1/1000，为仅次于21-三体综合征的常见合并先天性心脏缺陷的综合征，国内目前对该病的发病率尚缺乏统计 [1, 3]。 NS的主要临床表现包括特殊面容、先天性心脏病、身材矮小、颈蹼、胸廓畸形、视力异常、听力损失、发育迟缓、喂养困难、隐睾等。 其特征性面容在不同 …

2007年1月14日 · Noonan Syndrome (NS) is characterised by short stature, typical facial dysmorphology and congenital heart defects. The incidence of NS is estimated to be between 1:1000 and 1:2500 live births. The main facial features of NS are hypertelorism with down-slanting palpebral fissures, ptosis and low-set …

2007年1月14日 · Noonan Syndrome (NS) is characterised by short stature, typical facial dysmorphology and congenital heart defects. The incidence of NS is estimated to be between 1:1000 and 1:2500 live births. The main facial features of NS are hypertelorism with down-slanting palpebral fissures, ptosis and low-set posteriorly rotated ears with a thickened helix.

Noonan syndrome (NS) is one of the more common genetic conditions. The incidence of NS is estimated as 1 in 1,000 to 1 in 2,500 births, so it is still a relatively rare condition. The severity of NS is the same in males and females. The main features are congenital heart defects, short stature and characteristic facial features.

Noonan Syndrome is a common genetic disorder characterized by distinctive facial features, webbing of the neck, sternal deformities, short stature, congenital heart disease, hematologic abnormalities, variable developmental delay, cryptorchidism and lymphatic abnormalities.

Major orthopedic manifestations include sternal deformity, talipes equinovarus, and progressive scoliosis (onset at adolescence). Skin is often dry and sometimes hyperkeratotic on hands and feet. Hair is curly and may be thick or sparse. Peripheral lymphedema may be present and may be progressive and extensive in some.