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Descriptor English: Noonan Syndrome
Descriptor Spanish: Síndrome de Noonan
Descriptor Portuguese: Síndrome de Noonan
Descriptor French: Syndrome de Noonan
Entry term(s): Familial Turner Syndrome
Female Pseudo Turner Syndrome
Female Pseudo-Turner Syndrome
Male Turner Syndrome
Male Turner's Syndrome
Noonan Ehmke Syndrome
Noonan Syndrome 1
Noonan-Ehmke Syndrome
Pseudo Ullrich Turner Syndrome
Pseudo-Turner Syndrome, Female
Pseudo-Ullrich-Turner Syndrome
Turner Like Syndrome
Turner Phenotype with Normal Karyotype
Turner Syndrome, Familial
Turner Syndrome, Male
Turner's Phenotype, Karyotype Normal
Turner's Syndrome, Male
Turner-Like Syndrome
Ullrich Noonan Syndrome
Ullrich-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
RDF Unique Identifier: https://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.
Allowable Qualifiers: BL blood
CF cerebrospinal fluid
CI chemically induced
CL classification
CO complications
DG diagnostic imaging
DH diet therapy
DI diagnosis
DT drug therapy
EC economics
EH ethnology
EM embryology
EN enzymology
EP epidemiology
ET etiology
GE genetics
HI history
IM immunology
ME metabolism
MI microbiology
MO mortality
NU nursing
PA pathology
PC prevention & control
PP physiopathology
PS parasitology
PX psychology
RH rehabilitation
RT radiotherapy
SU surgery
TH therapy
UR urine
VE veterinary
VI virology
Previous Indexing: Turner's Syndrome (1966-1978)
Public MeSH Note: 1979
History Note: 1979
Related: Costello Syndrome MeSH
LEOPARD Syndrome MeSH
Neurofibromatosis 1 MeSH
Turner Syndrome MeSH
DeCS ID: 9821
Unique ID: D009634
Documents indexed in the Virtual Health Library (VHL): Click here to access the VHL documents
Date Established: 1979/01/01
Date of Entry: 1977/12/05
Revision Date: 2019/07/01
Noonan Syndrome - Preferred
Concept UI M0014957
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.
Preferred term Noonan Syndrome
Entry term(s) Familial Turner Syndrome
Noonan Ehmke Syndrome
Noonan-Ehmke Syndrome
Pseudo Ullrich Turner Syndrome
Pseudo-Ullrich-Turner Syndrome
Turner Like Syndrome
Turner Phenotype with Normal Karyotype
Turner Syndrome, Familial
Turner's Phenotype, Karyotype Normal
Turner-Like Syndrome
Ullrich Noonan Syndrome
Ullrich-Noonan Syndrome
Female Pseudo-Turner Syndrome - Narrower
Concept UI M0446934
Preferred term Female Pseudo-Turner Syndrome
Entry term(s) Female Pseudo Turner Syndrome
Pseudo-Turner Syndrome, Female
Turner Syndrome, Male - Narrower
Concept UI M0014958
Preferred term Turner Syndrome, Male
Entry term(s) Male Turner Syndrome
Male Turner's Syndrome
Turner's Syndrome, Male
Noonan Syndrome 1 - Narrower
Concept UI M000649004
Preferred term Noonan Syndrome 1



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