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Definition (MSH)
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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.
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Definition (NCI)
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Noonan syndrome caused by mutations in the PTPN11 gene.
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Definition (NCI)
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A genetic syndrome caused by mutations in the PTPN11 gene (over 50% of the cases) or less frequently mutations in the SOS1, RAF1, or KRAS genes. It is characterized by short stature, webbed neck, hypertelorism, low-set ears, deafness, and thrombocytopenia or abnormal platelet function.
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| Concepts |
Disease or Syndrome
(T047)
, Congenital Abnormality
(T019)
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| MSH |
D009634
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| ICD10 |
Q87.1
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| SnomedCT |
205684007, 88327006, 205794007, 205824006 |
| English |
Noonan Syndrome, Turner's phenotype, karyo norm, TURNER PHENOTYPE WITH NORMAL KARYOTYPE, NOONAN SYNDROME 1, NOONAN SYNDROME, NS1, Noonan's syndrome (diagnosis), Syndrome, Noonan, Turner phenotype, karyotype normal, Noonan Syndrome [Disease/Finding], males syndrome turners, noonans syndrome, familial syndrome turners, noonan's syndrome, noonan syndrome, male turner syndrome, Turner Phenotype with Normal Karyotype, Noonan Syndrome 1, Noonan-Ehmke Syndrome, Syndrome, Ullrich-Noonan, Turner Like Syndrome, Noonan Ehmke Syndrome, Ullrich Noonan Syndrome, Syndrome, Pseudo-Ullrich-Turner, Turner's Phenotype, Karyotype Normal, Turner-Like Syndrome, Familial Turner Syndrome, Turner Syndrome, Familial, Syndrome, Noonan-Ehmke, Syndrome, Familial Turner, Pseudo-Ullrich-Turner Syndrome, Pseudo Ullrich Turner Syndrome, Syndrome, Turner-Like, Ullrich-Noonan Syndrome, Noonan syndrome (disorder), Ullrich-Turner syndrome, Noonan's Syndrome, Noonan's syndrome, Turner's phenotype, karyotype normal, Noonan's syndrome (disorder), Turner's phenotype, karyotype normal (disorder), Noonan, Noonan syndrome, Noonan-Ehmke syndrome, Turner-like syndrome |
| Swedish |
Noonans syndrom
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| Japanese |
ﾇｰﾅﾝｼｮｳｺｳｸﾞﾝ, 男性Turner症候群, ターナー症候群-男性, メイルターナー症候群, ヌーナン症候群, 男性ターナー症候群, Noonan症候群, Turner症候群-男性 |
| Czech |
Noonanové syndrom
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| Finnish |
Noonanin oireyhtymä
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| Russian |
TERNERA SINDROM MUZHSKOI, NUNAN SINDROM, UIL'RIKHA SINDROM MUZHSKOI, НУНАН СИНДРОМ, ТЕРНЕРА СИНДРОМ МУЖСКОЙ, УИЛЬРИХА СИНДРОМ МУЖСКОЙ |
| Polish |
Zespół Turnera mężczyzn, Zespół Noonan |
| Hungarian |
Noonan-syndroma
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| Norwegian |
Noonans syndrom, Noonan-syndrom |
| Spanish |
síndrome de Ullrich - Turner, síndrome tipo Turner, síndrome de Noonan - Ehmke, fenotipo de Turner, cariotipo normal (trastorno), fenotipo de Turner, cariotipo normal, síndrome de Noonan (trastorno), síndrome de Noonan, Síndrome de Noonan |
| French |
Syndrome de Noonan de type 1, Phénotype de Turner avec caryotype normal, Syndrome de Noonan |
| Dutch |
syndroom van Noonan, Noonan-syndroom, Syndroom, Noonan- |
| German |
Noonan Syndrom, Noonan-Syndrom |
| Italian |
Sindrome di Noonan
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| Portuguese |
Síndrome de Noonan
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