SpletSummary Noonan syndrome is a genetic disorder that causes abnormal development of multiple parts of the body. Features of Noonan syndrome may include a distinctive facial … SpletNoonan syndrome is a common genetic disorder characterized by facial anomalies, congenital heart defect, short stature, webbed neck, chest deformities and undescended testes. The phenotypic expression of Noonan syndrome is extremely variable, with some affected subjects showing only minor features of the syndrome. Cardiac malformations …
Noonan Syndrome AAFP
Splet01. mar. 2024 · Females with Turner syndrome may develop a variety of distinctive physical features including a short neck with a webbed appearance, a low hairline at the back of the head, low-set ears, and narrow fingernails and toenails that are turned upward. A broad chest with widely spaced nipples may occur, which is sometimes referred to as “shield ... SpletManifestations vary, but short stature, webbed neck, broad chest, gonadal dysgenesis, and cardiac anomalies (commonly coarctation of the aorta and bicuspid aortic valve) are common; intellectual disability is rare. Risk of gonadal cancer is increased; it is often recommended to remove the gonads prophylactically, although this is controversial. marbella aeropuerto malaga autobus
Turner syndrome - About the Disease - Genetic and Rare Diseases ...
SpletContractures - webbed neck - micrognathia - hypoplastic nipples syndrome (Concept Id: C4751075) An extremely rare multiple congenital anomalies/dysmorphic syndrome with characteristics of micrognathia, short webbed neck, hypoplastic nipples and joint contractures (which improve over time) of the knees and elbows. Spleta particularly short, wide neck (webbed neck) a broad chest and widely spaced nipples; arms that turn out slightly at the elbows; a low hairline; teeth problems; a large number of … Splet21. avg. 2024 · Females with Turner syndrome may have a short, webbed neck with a low posterior hairline; short stature; drooping of the upper eyelids (ptosis) and/or widely … marbella aeroport