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Noonan-Syndrom
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Beschreibung:
A multifaceted disorder characterized by short stature, webbed neck, ptosis, skeletal malformations, hypertelorism, hormonal imbalance, , multiple cardiac abnormalities (most commonly including ), and some degree of . The phenotype bears similarities to that of that occurs only in females and has its basis in a 45, X karyotype abnormality. However, Noonan syndrome occurs in both males and females with a normal sex chromosome constitution (46,XX and 46,XY). NS1 is due to mutations at chromosome location 12q24.1, in PTPN11, a gene encoding . , a disorder that has clinical features overlapping those of Noonan Syndrome, is also due to mutations in PTPN11. In addition, there is a syndrome called neurofibromatosis-Noonan syndrome. Both the PTPN11 and NF1 gene products are involved in the pathway of Ras ().
Synonym(s):
Turner-Syndrom, männliches /
Pseudo-Ulrich-Turner-Syndrom /
Pseudo-Turner-Syndrom /
Weibliches Pseudo-Turner-Syndrom /
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(NLM)®
(DIMDI - Deutsche Fassung)
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Krankheiten
Haut- und Bindegewebskrankheiten