noonan syndrome…

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pectus excavatum, noonan syndrome, genetic disorder that causes, abnormal development of multiple parts, in particular there is webbing, the neck, different shapes, chest, reminiscent of turner syndrome, hence the former name turner-like syndrome, noonan syndrome, inherited in an autosomal dominant manner, affects at least 1 in 2,500 children, fact that some children, not have a parent, noonan syndrome likely reflects sporadic inheritance, presumed occurrence of a new mutation, first specific gene that causes, noonan syndrome, ptpn11, was discovered in 2001, expected that other genes, discovered that cause noonan syndrome, frequently-seen abnormalities include webbing, the neck, in the sternum, a sunken chest, pectus excavatum, facial abnormalities, congenital heart disease, pulmonary stenosis, abnormalities resemble those in turner syndrome, affects females, noonan syndrome, "male turner syndrome", this term is no longer used, noonan syndrome, affect females, facial abnormalities, low-set, abnormally shaped ears, sagging eyelids, ptosis, wide-set eyes, hypertelorism, epicanthal folds, a small jaw, micrognathia, mild mental retardation is present in, 25% of cases, hearing loss, puberty, delayed, males, have undescended testicles, a small penis, adult height, decreased, webbed, short-appearing neck, sternum abnormalities, pectus excavatum, occasionally pectus carinatum, sagging eyelids, ptosis, wide-set, hypertelorism, down-slanting eyes, low-set, abnormally shaped ears, undescended testicles, delayed puberty, mental retardation in only one quarter of patients, short stature, small penis, examination, an extra fold of skin, above the eyes, epicanthal folds, eyes, appear down-slanted, antimongoloid palpebral slant, arms held at an unusual angle, cubitus valgus, signs of congenital heart disease, pulmonic stenosis, occasionally asd, a bleeding tendency revealed by low platelet count, coagulation tests, measuring the levels of specific coagulation factors, in the blood, factors xi-xiii, testing, depend on the symptoms present, signs of heart disease, an ecg, chest x-ray, echocardiogram recommended, hearing tests, any sign of decreased hearing, genetic testing, identify causative mutations, in the ptpn11, a karyotype, confirm that a girl, does not have the similar-looking disorder, turner syndrome, no single treatment, noonan syndrome, treatment focuses on the problems that occur, growth hormone has been used successfully in noonan syndrome to treat short stature, noonan syndrome support group, noonansyndrome, expected outcome depends on the extent, severity of symptoms, patients, lead normal lives, mental retardation, low self-esteem, social difficulties related to physical abnormalities, male infertility in those, testes undescended, abnormal heart structure, accumulation of fluid in tissues of body, lymphedema, cystic hygroma, failure to thrive in infants, short stature, condition detected on early infant examinations, evaluation, experienced geneticist, needed to diagnose noonan syndrome, signs of noonan, turner syndrome ask health care provider, the name of a geneticist, genetic counseling, family history of noonan syndrome, a family history of noonan syndrome, want to consult, having children, prevention of complications, heart disease, depends on early detection, continuing care of a cardiologist.