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Noonan Syndrome MeSH Descriptor Data 2022


MeSH Heading
Noonan Syndrome
Tree Number(s)
C05.660.207.690
C14.240.400.787
C14.280.400.787
C16.131.240.400.784
C16.131.621.207.690
C17.300.690
Unique ID
D009634
RDF Unique Identifier
http://id.nlm.nih.gov/mesh/D009634
Scope Note
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 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.
Entry Term(s)
Familial Turner Syndrome
Female Pseudo-Turner Syndrome
Male Turner Syndrome
Noonan Syndrome 1
Noonan-Ehmke Syndrome
Pseudo-Ullrich-Turner Syndrome
Turner Phenotype with Normal Karyotype
Turner Syndrome, Male
Turner's Phenotype, Karyotype Normal
Turner's Syndrome, Male
Turner-Like Syndrome
Ullrich-Noonan Syndrome
NLM Classification #
QS 675
Previous Indexing
Turner's Syndrome (1966-1978)
See Also
Costello Syndrome
LEOPARD Syndrome
Neurofibromatosis 1
Turner Syndrome
Public MeSH Note
1979
History Note
1979
Date Established
1979/01/01
Date of Entry
1977/12/05
Revision Date
2019/07/01
Noonan Syndrome Preferred
Turner Syndrome, Male Narrower
Noonan Syndrome 1 Narrower
Female Pseudo-Turner Syndrome Narrower
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