1. 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

Home List categories Eponyms A-Z Biographies by country ... Contact Noonan's syndrome Also known as: Familial Turner syndrome Female pseudo Turner syndrome Pseudo Turner syndrome Male Turner syndrome Pseudo Ullrich-Turner syndrome Turner-like syndrome Turner's phenotype with normal karotype Turner's syndrome in female with X-chromosome Ullrich-Noonan syndrome XX Turner phenotype syndrome Turner phenotype syndrome Associated persons: Jacqueline Anne Noonan Otto Ullrich Description: 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 Turner’s 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.

2. 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

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3. 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

Tips for printing Noonan Syndrome About I.B.I.S. Home Search Topics Search all contents ... "In the News" Messages... Questions/comments Report Dead Links S.O.S. - Exchange Join I.B.I.S. ... Etchings Please Explore: Support Groups Professional Associations Key Information Sources Topics include Title and Male Turner Syndrome Noonan Syndrom Noonan Syndrome Noonanovej Syndròm Pseudo-Turner Syndrome Pterigium Colli Syndrome Sindrome di Noonan Turner-Like Syndrome Turner Phenotype with Normal Karyotype Watson Syndrome (Neurofibromatosis) Special Resources Noonan Syndrome A Selection of Internet Sites [*] Outstanding [P] Professionals [S] Support Groups [Italian] [Slovakian] [Danish] [German] [Norwegian] [*][P] Noonan syndrome 1; NS1 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 .. [*][P] Noonan Syndrome Birth Defects Foundation. Noonan Syndrome Booklet. This booklet, is intended for individuals with Noonan Syndrome, parents, professionals and friends. It has been produced to encourage greater awareness, and provide a brief overview of current available information ...

4. EMedicine - Turner Syndrome : Article Excerpt By: Daniel Postellon, MD Noonan syndrome, sometimes inappropriately called male turner syndrome, can occurin males or females. It is an autosomal dominant disorder and is unrelated. http://www.emedicine.com/ped/byname/turner-syndrome.htm

(advertisement) Excerpt from Turner Syndrome Synonyms, Key Words, and Related Terms: 45 X karyotype, Bonnevie-Ullrich syndrome, gonadal dysgenesis, monosomy X Please click here to view the full topic text: Turner Syndrome 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: In the US: Frequency is approximately 1 in 2,000 live-born female infants. As many as 15% of spontaneous abortions have a 45 X karyotype. Internationally: Incidence is the same as for the US. No known ethnic or racial factors influence frequency.

5. 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

Skip navigation Medical Encyclopedia Other encyclopedia topics: A-Ag Ah-Ap Aq-Az B-Bk ... Z Noonan syndrome Contents of this page: Illustrations Alternative names Definition Causes, incidence, and risk factors ... Prevention Illustrations 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

6. 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

Multiple Congenital Anomaly/Mental Retardation Syndromes Table of Contents Return to Entry Page A B C ... Z M MacDermot-Winter syndrome macro-orchidism-marker X (MOMX) syndrome macrocephaly with feeblemindedness and encephalopathy with peculiar deposits macrocephaly-cutis marmorata telangiectatica congenita syndrome ... U.S. National Library of Medicine , 8600 Rockville Pike, Bethesda, MD 20894 National Institutes of Health Privacy Accessibility Last updated: 20 November 2001

7. Diagnosis - Hair Defects Table Female pseudoturner syndrome, Noonan syndrome, male turner syndrome, 163950. Maleturner syndrome, Noonan syndrome, Female pseudo-turner syndrome, 163950. http://www.keratin.com/ab/ab006.shtml

hair defects table Home Forums Privacy Advertising ... Home On this page... Introduction List of disorders involving hair fiber defects as a primary symptom List of disorders involving hair fiber defects as a secondary symptom 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

8. Diagnosis - Hypertrichosis Table Female pseudoturner syndrome, Noonan syndrome, male turner syndrome, 163950. Maleturner syndrome, Noonan syndrome, Female pseudoturner syndrome, 163950. http://www.keratin.com/ab/ab007.shtml

hypertrichosis table Home Forums Privacy Advertising ... Home On this page... Introduction List of disorders involving excess hair growth (hypertrichosis) as a secondary symptom List of disorders involving excess hair growth (hypertrichosis) as a primary symptom 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.

9. 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=

10. 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

11. 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

12. 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

HOME N N-Acetylglutamate Synthetase Deficiency N-acetylglutamate synthetase deficiency HYPERAMMONEMIA DUE TO N-ACETYLGLUTAMATE SYNTHETASE DEFICIENCY N5-Methylhomocysteine Transferase Deficiency See Methionine Synthase Deficiency NADH-CoQ Reductase Deficiency of (Complex I Mitochondrial Respiratory Chain, Deficiency of) COMPLEX I, MITOCHONDRIAL RESPIRATORY CHAIN, DEFICIENCY OF NADH-CoQ reductase Naegeli (Franceschetti Jadassohn) Syndrome NAEGELI SYNDROME Nager Syndrome See Acrofacial Dystenosis, Nager Type Naguib Richieri Costa Syndrome See Acro Fronto Facio Nasal Dysostosis Nail-Patella Syndrome (Fong Disease) List of Sites Najjar Syndrome See Cardiogenital Syndrome Nakajo Nishimura Syndrome (Amyotrophy Fat Tissue Anomaly) Amyotrophy fat tissue anomaly Nance Horan Syndrome (Cataract-Dental Syndrome; Cataract, X-Linked, with Hutchinsonian Teeth; Mesiodens-Cataract Syndrome) CATARACT-DENTAL SYNDROME Nance-Horan syndrome Nance Insley Syndrome (Chondrodystrophy with Sensorineural Deafness, Nance Sweeny Chondrodysplasia, Otospondylomegaepiphyseal Dysplasia) CHONDRODYSTROPHY WITH SENSORINEURAL DEAFNESS Chondrodystrophy sensorineural deafness Nance Sweeny Chondrodysplasia See Nance Insley Syndrome Nanism Due to Growth Hormone Isolated Deficiency See Growth Hormone Deficiency Nanocephalic Dwarfism See Bird-Headed Dwarfism Nanophthalmia/Nanophthalmos Autosomal Recessive See Anophthalmia/Anophthalmos, Clinical

13. 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

HOME Noonan Syndrome (Female Pseudo-Turner Syndrome, Male Turner Syndrome, Turner Phenotype with Normal Karyotype) Founder of The Noonan Syndrome Support Group, Inc. NOONAN SYNDROME Noonan, syndrome : sites francophones Noonan Syndrome ... HOME

14. 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

Sorry, your browser doesn't suppor Java. Noonan Syndrome Synonynms webbed neck syndrome male Turner syndrome female pseudo-Turner syndrome 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

15. 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

Home Contact Us Privacy Caring For Your Well Being Alternative Medicine Clinical Trials Health News Poisons ... Health Topics A-Z Search 1Up Health Health Directory Addictions Alternative Animal ... Weight Loss By Demography Child Health Teen Health Men's Health Women's Health ... Conditions and Diseases : M Description Browse by Alphabets A B C D ... Z Categories MAC Machado-Joseph Disease Macular Degeneration Mad Cow Disease ... Myotonic Dystrophy Help build the largest human-edited directory on the web. Submit a Site Open Directory Project Become an Editor Parts of the directory made available on 1UpHealth have been modified. External Web site links provided on this site are meant for convenience and for informational purposes only; they do not constitute an endorsement. Search: 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

16. 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

List of rare diseases: English Deutsch Language: MeSH term: Accepted terms: English: Noonan Syndrome - Turner's Syndrome, Male - Male Turner's Syndrome - Syndrome, Male Turner's - Syndrome, Noonan - Turner Syndrome, Male - Turners Syndrome, Male Français: NOONAN, SYNDROME - SYNDROME NOONAN Deutsch: Noonan-Syndrom - Turner-Syndrom, männliches - Pseudo-Ulrich-Turner-Syndrom Español: SINDROME DE NOONAN - SINDROME DE TURNER MASCULINO Português: SINDROME DE NOONAN - SINDROME DE TURNER MASCULINA HONselect ressources Definition: Yes Articles: Yes Images: No News: No Conferences: No Clinical trials: No Web sites: English Yes Français No Deutsch No Español No Português No Home About us Site map Feedback ... HONewsletter http://www.hon.ch/HONselect/RareDiseases/C05.660.207.690.html Last modified: Thu Jul 25 2002

17. 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

the healthyforum .com The information available on this web site is not a substitute for diagnosis and advice from your qualified practitioner. You must always consult an appropriate specialist in order to address your personal requirements. Please see our Terms and conditions of use and Privacy statement. print this page email to a friend Turner's Syndrome Turner’s 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 return to body map home WIS ... contact us

18. 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/

What's in this site? Symptoms Complications Know what to expect from Turner Syndrome. Interventions Find out what you can do to lead a healthy, quality life. What is Turner Syndrome? Turner Syndrome is one of the rare diseases that affect only women. It is caused by abnormalities in one of the X chromosomes, and has a number of symptoms, including short stature and the presence of a webbed neck. 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. Why Men Don't Get Turner Syndrome So, out of all the rare diseases, why are men immune to Turner Syndrome? Humans have 23 pairs of chromosomes which contain all of our genetic information. Men are distinguished from women by having one pair of chromosomes consisting of a single "X" and a single "Y" chromosome. Women on the other hand normally have two X chromosomes. Turner Syndrome/ Turner's Syndrome Turner Syndrome is occasionally called "Turner's Syndrome." It is named after the doctor who discovered the disease, H.H. Turner. He first identified the disease in 1938.

19. 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

CASE indexation AORTIC COARCTATION; DIETHYLSTILBESTROL HEDINGER SYNDROME MASCULINE; YOUNG PERSON; MORPHOLOGY MALE; PSEUDO-COARCTATION CONGENITA THE AORTA; SENSITIVITY YOUNG PERSON; HEDINGER SYNDROME TURNER FACE HEDINGER SYNDROME; YOUNG PERSON; SCROTUM; SENSITIVITY YOUNG PERSON

20. 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

Genetic Science Learning Center at the Eccles Institute of Human Genetics University of Utah Home ... What Can Our Chromosomes Tell Us? Turner Syndrome 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. How do chromosomes determine the gender of an individual? It took scientists a long time to work out the puzzle of how sex chromosomes determine an individual's gender. Here's the evidence: X + X = FEMALE Y + X = MALE X + = FEMALE (Turner Syndrome) Y + X + X = MALE (Klinefelter Syndrome) What's the key feature? What chromosomes do the males have that the females don't have?

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