Svensk definition
En mångfacetterad sjukdom, kännetecknad av kort kroppsväxt, veckig nacke, hängande ögonlock, skelettmissbildningar, hormonrubbningar, kryptorkism, ett flertal hjärtmissbildningar (oftast pulmonalklaffstenos) och viss psykisk utvecklingsstörning. Fenotypen har likheter med Turners syndrom, som endast förekommer hos kvinnor och beror på 45X-karyotypavvikelse. Noonans syndrom förekommer dock hos båda könen med normal könskromosomuppsättning (46XX och 46XY). NS1 beror på mutationer på kromosomplats 12q24.1, PTPN11, en gen som kodar för icke-receptortyp 11-proteintyrosinfosfatas. LEOPARD-syndromet, med en del kliniska drag gemensamma med Noonans syndrom, beror också på mutationer i PTPN11. Dessutom finns det ett syndrom som kallas neurofibromatos-Noonans syndrom. Både PTPN11- och NF1-genprodukter medverkar i signalöverföringsvägarna för Ras (ras-proteiner).
Engelsk definition
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.
Svenska synonymer
Inga svenska synonymer finns.
Engelska synonymer
Noonan-Ehmke Syndrome — Noonan Ehmke Syndrome — Ullrich-Noonan Syndrome — Ullrich Noonan Syndrome — Turner Phenotype with Normal Karyotype — Turner's Phenotype, Karyotype Normal — Turner-Like Syndrome — Turner Like Syndrome — Familial Turner Syndrome — Turner Syndrome, Familial — Pseudo-Ullrich-Turner Syndrome — Pseudo Ullrich Turner Syndrome — Turner Syndrome, Male — Turner's Syndrome, Male — Male Turner's Syndrome — Male Turner Syndrome — Noonan Syndrome 1 — Female Pseudo-Turner Syndrome — Female Pseudo Turner Syndrome — Pseudo-Turner Syndrome, Female