Noonan's Syndrome (www.whonamedit.com) Also known as Familial Turner syndrome,Female pseudo Turner syndrome,Pseudo Turnersyndrome,male turner syndrome,Pseudo UllrichTurner syndrome,Turner-like http://www.whonamedit.com/synd.cfm/1920.html
Extractions: Jacquline A. Noonan and Dorothy Ehmke [American cardiologist/paediatrician] in 1963 defined the syndrome on the basis of clinical and cytogenetic findings in six boys and three girls with valvular pulmonary stenosis, short stature, hypertelorism and skeletal anomalies, and, in boys, retentio testis. In a later publication (1968) Noonan described a total of 19 patients of both sexes with unusual facies, congenital heart defect and other symptoms resembling those of Turners syndrome. However, the patients had normal chromosomes. While at Iowa, Noonan, together with Dorothy Ehmke, conducted a clinical investigation, which included 833 children with congenital heart disease who were carefully studied for the presence of additional extra-cardiac anomalies. Nine of these children had a similar characteristic facies and pulmonary stenosis. These patients were reported by Noonan to the Midwest Society of Pediatric Research held in Cincinnati in 1962.
GeneReviews: Noonan Syndrome Turner Syndrome In 1938, Henry Turner first described Turner syndrome, which is one of the most common chromosomal abnormalities. More than 95% of adult women with Turner syndrome exhibit short stature and Noonan syndrome, sometimes inappropriately called "male turner syndrome " can occur in males or females. http://www.geneclinics.org/profiles/noonan
Noonan Syndrome Topics include Title and male turner syndrome Noonan Syndrom Noonan Syndrome NoonanovejSyndròm PseudoTurner Syndrome Pterigium Colli Syndrome Sindrome di http://ibis-birthdefects.org/start/noonan.htm
Extractions: OMIM. The disorder now known as Noonan syndrome bears similarities to the disorder described by Turner (1938) and shown by Ford et al. (1959) to have its basis in a 45,X chromosomal aberration ... Noonan (1968) reported 19 cases of whom 17 had pulmonary stenosis and 2 had patent ductus arteriosus. Twelve were males and 7 were females. Deformity of the sternum with precocious closure of sutures was a frequent feature ..
Extractions: (advertisement) Synonyms, Key Words, and Related Terms: 45 X karyotype, Bonnevie-Ullrich syndrome, gonadal dysgenesis, monosomy X Background: In 1938, Henry Turner first described Turner syndrome, which is one of the most common chromosomal abnormalities. More than 95% of adult women with Turner syndrome exhibit short stature and infertility. Pathophysiology: Turner syndrome is caused by the absence of one set of genes from the short arm of one X chromosome. In patients with 45 X karyotype, about two thirds are missing the paternal X chromosome. In addition to monosomy X, a similar clinical picture is found with a 46 XXiq karyotype and in some individuals with mosaic karyotypes. A deletion of the SHOX gene can cause an identical phenotype and also may be considered as a variety of Turner syndrome. Frequency:
MEDLINEplus Medical Encyclopedia: Noonan Syndrome Because these abnormalities resemble those of Turner syndrome (which only affectsfemales), Noonan syndrome used to be called male turner syndrome , this term http://www.nlm.nih.gov/medlineplus/ency/article/001656.htm
Extractions: Skip navigation Other encyclopedia topics: A-Ag Ah-Ap Aq-Az B-Bk ... Z Contents of this page: Pectus excavatum Alternative names Return to top Turner-like syndrome of males Definition Return to top A genetic syndrome that causes abnormal development of multiple parts of the body. In particular there is webbing of the neck and different shapes to the chest that are reminiscent of Turner syndrome, hence the former name Turner-like syndrome. Causes, incidence, and risk factors Return to top Noonan syndrome can be inherited in an autosomal dominant manner. It affects at least 1 in 2,500 children. The fact that some children do not have a parent with Noonan syndrome likely reflects sporadic inheritance, i.e., presumably the occurrence of a new mutation. The first specific gene that causes Noonan syndrome, called PTPN11, was discovered in 2001. It is expected that other genes will be discovered that cause Noonan syndrome. Frequently seen abnormalities include webbing of the neck, changes in the sternum (usually a sunken chest called pectus excavatum), facial abnormalities, and congenital
Syndrome DB - Table Of Contents Kallmannde Morsier syndrome male pseudohermaphroditism-persistent müllerianstructures-mental retardation syndrome male turner syndrome Malouf syndrome http://www.nlm.nih.gov/mesh/jablonski/syndrome_toc/toc_m.html
Extractions: hair defects table Home Forums Privacy Advertising ... Home On this page... Introduction The tables below records disorders known to involve hair shaft defects. The first table lists disorders where hair defects are a primary symptom. The second table lists disorders where hair defects can be one of several symptoms. Typically the other symptoms are of greater concern and health/life threatening. Links to relevant web pages on the Online Mendelian Inheritance in Man (OMIM) web database are also given where possible. Where a disorder is known by more than one name, alternative names are given in the second column and the record duplicated in the first column under each respective name. Brackets around alternative disorder names indicate an indirect association, for example a subcategory of the disorder. These records are not duplicated in the first column. List of disorders involving hair fiber defects as a primary symptom Disorders with hair defects as a primary symptom Alternative names for disorder Links to OMIM web pages for disorder (where available) Allotrichia circumscripta symmetrica capillitii
Extractions: hypertrichosis table Home Forums Privacy Advertising ... Home On this page... Introduction The tables below records disorders known to involve hypertrichosis. The first table lists disorders where hypertrichosis is a primary symptom. The second table lists disorders where hypertrichosis can be one of several symptoms. Typically the other symptoms are of greater concern and health/life threatening. The clinical distinction between hypertrichosis and hirsutism is that hypertrichosis involves hair growth on any hair bearing area of skin. The excess hair growth may induced by a wide variety of environmental or genetic factors. Hirsutism is the growth of hair in a secondary sexual characteristic pattern. In women hirsutism involves unwanted excess hair limited to regions including the mustache, beard, chest and/or escutcheon areas. Hirsutism is typically induced by hormonal imbalance, especially androgen excess. This is not necessarily a complete list of disorders involving hypertrichosis. Links to relevant web pages on the Online Mendelian Inheritance in Man (OMIM) web database are also given where possible.
Health Library - Noonan Syndrome Synonyms. Female PseudoTurner Syndrome; male turner syndrome; Turner Phenotypewith Normal Chromosomes (Karyotype); NS. Disorder Subdivisions. None. http://health_info.nmh.org/Library/HealthGuide/IllnessConditions/topic.asp?hwid=
University Of Miami School Of Medicine - Glossary - Noonan Syndrome Other names for Noonan syndrome have included the male turner syndrome, femalepseudoTurner syndrome, Turner phenotype, and (as mentioned above) the Turner http://www.med.miami.edu/patients/glossary/art.asp?articlekey=6167
NORD - National Organization For Rare Disorders, Inc. Offers the synonyms, a general discussion and further resources.Category Health Conditions and Diseases Noonan Syndrome male turner syndrome; NS; Turner Phenotype with Normal Chromosomes (Karyotype).Disorder Subdivisions General Discussion Noonan syndrome http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Noonan Syndro
Birth Disorder Information Directory - N Nontropical Sprue See Celiac Disease/Sprue. Noonan Syndrome (Female PseudoTurnerSyndrome, male turner syndrome, Turner Phenotype with Normal Karyotype) http://www.bdid.com/defectn.htm
Noonan Syndrome HOME Noonan Syndrome (Female PseudoTurner Syndrome, male turner syndrome,Turner Phenotype with Normal Karyotype). Founder of The http://www.bdid.com/noonan.htm
Noonan Syndrome Sorry, your browser doesn't suppor Java. Noonan Syndrome. Synonynms webbedneck syndrome. male turner syndrome. female pseudoTurner syndrome. http://www.manbir-online.com/diseases/noonan.htm
Extractions: Noonan Syndrome Synonynms Jacqueline Noonan, paediatrician and heart specialist in 1963, published a report on a small group of patients with typical facies, congenital heart defect, and some clinical features similar to Turner syndrome, but with normal chromosomes. Its after her that this syndrome has been named. Noonan syndrome is inherited as an autosomal dominant condition. This means that the Noonan gene is on a non-sex (autosomal) chromosome and is transmitted from parent with a 50% probability to child. Although one dose of the Noonan gene is enough to cause the syndrome. A gene for Noonan syndrome (NS1) has been mapped to chromosome number 12. There are several different Noonan genes. The frequency of the Noonan syndrome is estimated to be between 1:1,000 and 1:2,500 in the general population Main features of this syndrome are: Pulmonary Stenosis Short stature after birth Webbing of Neck Caved in Chest Bones In boys, Testes that do not descend into the scrotum
1Up Health > Health Links Directory > Conditions And Diseases: M MAC (2) MachadoJoseph Disease (6) Macular Degeneration (27) Mad Cow Disease (9)Madelung's Disease (11) Malaria (36) male turner syndrome (6) Malignant http://www.1uphealth.com/links/conditions-and-diseases-m.html
Extractions: The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. A licensed physician should be consulted for diagnosis and treatment of any and all medical conditions. Call 911 for all medical emergencies. Links to other sites are provided for information only they do not constitute endorsements of those other sites. Home Contact Us Privacy Links Directory
HONselect - Noonan Syndrome English Noonan syndrome, turner's syndrome, male - male turner's syndrome -syndrome, male turner's - syndrome, Noonan - turner syndrome, male - turners http://www.hon.ch/HONselect/RareDiseases/C05.660.207.690.html
Genes And Disease - Turner's Syndrome (male) turner's syndrome. turners syndrome is a condition where the number of sex chromosomes is abnormal either there is http://www.thehealthyforum.com/bodymapssec/genes_turners.html
Extractions: Turners syndrome is a condition where the number of sex chromosomes is abnormal - either there is a single X chromosome or there is an additional one. Usually there is no functioning ovarian tissue, but the external genitalia are female. Although they are infertile normal development can occur with hormone replacement therapy at the time of puberty. return to genetically determined disorders
Turner Syndrome, Its Symptoms And Treatments male fetuses that miss the X chromosome don't survive. A single X chromosome cansurvive, however, and the resulting child is a girl with turner syndrome. http://www.turner-syndrome.com/
Extractions: While Turner syndrome symptoms may be apparent at birth, the condition often isn't diagnosed until puberty. The characteristic short stature may be overlooked, and the girl is just presumed to be shorter than average. As with other rare diseases, most people have never heard of Turner Syndrome, so the warning signs are often missed.
HEDINGER SYNDROME TURNER MALE AORTIC COARCTATION; DIETHYLSTILBESTROL HEDINGER syndrome MASCULINE; YOUNG PERSON; MORPHOLOGY male; PSEUDOCOARCTATION CONGENITA THE AORTA; SENSITIVITY YOUNG PERSON; HEDINGER syndrome turner http://www.med.univ-rennes1.fr/cerf/ico_an/IDRE/HADM1538.HTM
Turner Syndrome Here's the evidence X + X = FEmale; Y + X = male; X + 0 = FEmale (Turnersyndrome); Y + X + X = male (Klinefelter syndrome). What's the key feature? http://gslc.genetics.utah.edu/units/disorders/karyotype/turnersyndrome.cfm
Extractions: Home ... What Can Our Chromosomes Tell Us? Turner Syndrome Turner Syndrome affects 60,000 girls and women in the United States. This disorder occurs in 1 in 2000 to 1 in 2500 live births, with about 800 new cases diagnosed each year. Girls with Turner Syndrome do not develop secondary sex characteristics such as breast tissue and underarm or pubic hair. Women and girls with Turner Syndrome have only one X chromosome. This is an example of monosomy See the box below to learn more about how the gender of an individual is determined. Where does the single X chromosome come from? In 75 to 80 percent of cases, the single X chromosome comes from the mother's egg because the father's sperm that fertilizes the egg is missing a sex chromosome.
