"Noonan Syndrome" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus,
MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure,
which enables searching at various levels of specificity.
A genetically heterogeneous, multifaceted disorder characterized by short stature, webbed neck, ptosis, skeletal malformations, hypertelorism, hormonal imbalance, CRYPTORCHIDISM, multiple cardiac abnormalities (most commonly including PULMONARY VALVE STENOSIS), and some degree of INTELLECTUAL DISABILITY. The phenotype bears similarities to that of TURNER SYNDROME that occurs only in females and has its basis in a 45, X karyotype abnormality. Noonan syndrome occurs in both males and females with a normal karyotype (46,XX and 46,XY). Mutations in a several genes (PTPN11, KRAS, SOS1, NF1 and RAF1) have been associated the the NS phenotype. Mutations in PTPN11 are the most common. LEOPARD SYNDROME, a disorder that has clinical features overlapping those of Noonan Syndrome, is also due to mutations in PTPN11. In addition, there is overlap with the syndrome called neurofibromatosis-Noonan syndrome due to mutations in NF1.
- Noonan Syndrome
- Syndrome, Noonan
- Noonan Syndrome 1
- Noonan-Ehmke Syndrome
- Noonan Ehmke Syndrome
- Syndrome, Noonan-Ehmke
- Pseudo-Ullrich-Turner Syndrome
- Pseudo Ullrich Turner Syndrome
- Syndrome, Pseudo-Ullrich-Turner
- Turner's Phenotype, Karyotype Normal
- Turner-Like Syndrome
- Syndrome, Turner-Like
- Turner Like Syndrome
- Ullrich-Noonan Syndrome
- Syndrome, Ullrich-Noonan
- Ullrich Noonan Syndrome
- Familial Turner Syndrome
- Syndrome, Familial Turner
- Turner Syndrome, Familial
- Turner Phenotype with Normal Karyotype
Female Pseudo-Turner Syndrome
- Female Pseudo-Turner Syndrome
- Female Pseudo Turner Syndrome
- Pseudo-Turner Syndrome, Female
- Syndrome, Female Pseudo-Turner
Turner Syndrome, Male
- Turner Syndrome, Male
- Syndrome, Male Turner
- Turner's Syndrome, Male
- Male Turner's Syndrome
- Syndrome, Male Turner's
- Male Turner Syndrome
Below are MeSH descriptors whose meaning is more general than "Noonan Syndrome".
Below are MeSH descriptors whose meaning is more specific than "Noonan Syndrome".
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