1. HNF #839 NAIL-PATELLA SYNDROME Information about nail patella syndrome, what it is, a look at the gene, and links to resources and support groups. http://www.hopkinsmedicine.org/healthnewsfeed/hnf_839.htm

Health Newsfeed # 839 NAIL-PATELLA SYNDROME A genetic misfire can cause some rather exotic disorders. One of the most unusual is called nail-patella syndrome. Occurring once in about every 50-thousand births, NPS results in the abnormal growth of fingernails, toenails, even kneecaps. In extreme cases, people with NPS have no knee caps or nails whatsoever. Even more puzzling, the syndrome also appears to be linked to serious kidney problems and even glaucoma in the eye, although researchers don't know why. Recent studies with mice strongly suggest that a single gene causes nail-patella syndrome. Johns Hopkins medical geneticist Dr. Iain McIntosh says it begins to develop at about 9 weeks into gestation. So in many cases, before a woman even knows she's pregnant, the mistakes', so to speak, have already happened in the embryo. As we learn more about what the gene is doing in kidney and eye, then it may be possible to do something to alleviate those more serious symptoms. :14 Dr. McIntosh says it could be awhile before science can determine whether any of its defects are reversible.

2. Nail Patella Syndrome Worldwide The homepage of NailPatella Syndrome Worldwide, the only non-profit serving the needs of people with NPS. nail patella syndrome Worldwide. http://www.nailpatella.org/

Nail Patella Syndrome Worldwide The homepage of Nail-Patella Syndrome Worldwide, the only non-profit serving the needs of people with NPS. Nail-Patella Syndrome, Online Support Group, Fong Disease, Fong's Disease, knee problems, Hereditary Osteo-onychodysplasia, Turner-Keiser Syndrome Click here to enter http://www.geocities.com/nailpatella_syndrome_worldwide/ mydomain.com - Register your domain name

3. Nail Patella Syndrome nail patella syndrome. A Thumbs Up (TM). Look At NPS. My name is Carol Ferensak. Click on my picture to read my personal NPS story. About nail patella syndrome http://hometown.aol.com/PACALI/npspage.html

Main htmlAdWH('7002568', '234', '60'); Providing reliable NPS information, networking and support since September 1995! Nail Patella Syndrome A Thumbs Up (TM) Look At NPS My name is Carol Ferensak. (e-mail: PACALI@aol.com ) and I have a rare congenital disorder called Nail Patella Syndrome.It is very dominant in the maternal side of my family, with about 50% of us having it. I have recently located some distant relatives with NPS and by combining my genealogy with theirs, I have been able to trace the NPS in our family back as far as the 1600s! I began researching Nail Patella Syndrome in Sept '96, and in the process of searching for information I have located quite a few other people that also have it. In talking with each other we have found that although our symptoms vary tremendously, we have much in common. Before we found each other, most of us had never heard of anyone else that had it except our own families! (And some, called spontaneous mutations, don't even have other family members with it!) So, it was really exciting to find others...to share our stories, our problems, our concerns and personal

4. Nail-Patella Syndrome NailPatella Syndrome support groups, clinics with genetic counselors and geneticists Nail-Patella Syndrome. Nail-Patella Syndrome, C Ferensak. nail patella syndrome Worldwide, includesfrequently http://www.kumc.edu/gec/support/nail_pat.html

Nail-Patella Syndrome Nail-Patella Syndrome , C Ferensak Nail Patella Syndrome Worldwide , includes frequently asked questions Also See: National organizations , genetic conditions or birth defects Nail-Patella Syndrome , Online Mendelian Inheritance in Man 161200 Nail-Patella Syndrome , Pediatric Database, Canada Nail-Patella Syndome , Johns Hopkins Nail Patella Syndrome , Contact a Family, United Kingdom Heditary Chronic Nephropathy, Nail-Patella Syndrome (Osteo-onychodysplasia; Arthro-onychodysplasia; Onycho-osteodysplasia), the Merck Manual To locate a genetic counselor or geneticist in your area: Professional Genetics Societies Genetic clinics, centers, departments Revised July 16, 2002 Genetic Societies Clinical Resources Labs Clinics ... Search Genetics Education Center Debra Collins, M.S. CGC , Genetic Counselor, dcollins@kumc.edu This site subscribes to the principles of the HONcode (Health on the Net, Code of Conduct for Medical and Health Web Sites) of the Health On the Net Foundation

5. Index Pr©sente une description des manifestations de cette maladie, (onychoosteodysplaise-h©r©ditaire) et des liens par le le p¨re d'un patient. http://gottfield.free.fr/index/indexx.html

Mon nom est Damien DAVID, mon fils est atteint du Nail Patella Syndrom (NPS) ou Onycho-Ostéo-Dysplasie héréditaire ou encore ostéo- onychodysostose . Ayant eu beaucoup de mal à collecter des informations sur cette pathologie (termes médicaux, sites en anglais, en japonais ...),j'ai décidé de créer ce site pour venir en aide aux personnes francophones concernées par cette maladie. Qu'est-ce que le NPS? Le NPS est une maladie génétique rare: L'incidence a été estimée à 22 cas par million; la maladie a été décrite dans toutes les populations C'est un syndrome autosomique dominant, ce qui veut dire qu'une personne atteinte transmettra ce gène à 50% de sa descendance. Son éthiologie est inconnue (principale hypothèse retenue par les chercheurs :troubles de la synthèse et de la dégradation du collagène ) En revanche, ce que l'on sait, c'est le gène concerné .

6. Index Principaux signes du nail patella syndrome et liens par le p¨re d'un patient victime de l'onychoost©o-dysplasie-h©r©ditaire. http://gottfield.free.fr/index/

7. Original NPS Page Informational site about a rare genetic disorder called nail patella syndrome which involves deformities of the fingernails, knees, elbows. It may also foot deformities such as twisted or club nail patella syndrome. My family and I have nail patella syndrome. After researching it for almost 3 years I created my. nail patella syndrome Homepage. Click above to http://members.aol.com/PACALI

Main htmlAdWH('7002568', '234', '60'); Nail Patella Syndrome My family and I have Nail Patella Syndrome. After researching it for almost 3 years I created my Nail Patella Syndrome Homepage Click above to find medical information, photos, a medical journal article, links to other related sites, and a guestbook where many others with NPS have told their stories. And don't forget to bookmark it for future reference. Nail Patella Syndrome src="http://ad.linkexchange.com/1/X306704/logoshowad?free"> target="_top">LinkExchange Member

8. Nail Patella Syndrome Current Features in TBASE. by Anna V. Anagnostopoulos. MAY 1998. Lmx1b Knockouts the nail patella syndrome. nail patella syndrome Synonyms encountered in the nailpatella syndrome, such as absence of nail and patella, skeletal dysplasia http://tbase.jax.org/docs/nail.html

Current Features in TBASE by Anna V. Anagnostopoulos MAY 1998 Nail Patella Syndrome Synonyms May 1998 features mice harboring a targeted disruption of the murine gene encoding the LIM homeo box transcription factor 1B. To investigate the role of murine in limb development, Chen et al., , generated mice harboring a targeted deletion of the second LIM domain, the homeodomain, and most of the carboxy-terminal region of Lmx1b (exons 3-7). Lmx1b homozygous null mice show prominent phenotypic features which are reminiscent of the abnormalities encountered in the nail-patella syndrome , such as absence of nail and patella, skeletal dysplasia, dorsal-ventral conversions and renal insufficiency. KNOCKOUT-RELATED SITES History Selected Reading Database Links Miscellaneous Sites ... Your Suggestions on this Feature History Dreyer et al., provide evidence that the human gene maps to the NPS locus and that three independent NPS patients harbor de novo heterozygous mutations for this gene. These data, in conjunction with the characteristic limb and kidney abnormalities reported in Lmx1b-null mice by Chen et al.,

9. Nail-patella Syndrome Fiche dinformation pratiques sur le nail patella syndrome, signes de la maladie, autres sites internet, types de consultations adapt©es, laboratoires de diagnostic, associations de patients. http://www.orpha.net/static/FR/nail_patella.html

10. Nail Patella Syndrome nail patella syndrome. About I.B.I.S. Home. Search Topics. Search all contents. Standards " MedWord. Birth Defects. Gallery Music. Please Explore Support Groups. Professional Associations. Key Information Sources. Topics include Title and Under Development. 161200 NAIL - PATELLA SYNDROME. Alternative titles; symbols http://www.ibis-birthdefects.org/start/nailpate.htm

Tips for printing Nail Patella 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 Onychoosteodysplasia Turner - Kieser Syndrome Fong Disease Special Resources Nail Patella Syndrome A Selection of Internet Sites [*] Outstanding [P] For Professionals Under Development 161200 NAIL - PATELLA SYNDROME Alternative titles; symbols ONYCHOOSTEODYSPLASIA TURNER - KIESER SYNDROME FONG DISEASE from OMIM Gene Map Locus: 9q34.1 Dysplasia of the nails and absent or hypoplastic patellae are the cardinal features but others are iliac horns, abnormality of the elbows interfering with pronation and supination, and in some cases nephropathy. Nephropathy was an associated abnormality in the family of Hawkins and Smith (1950). The renal change resembles glomerulonephritis ... In the case of Simila et al. (1970) took the appearance of congenital nephrosis ... This condition is sometimes called Fong disease for the physician who discovered it ( Fong, 1946 ) in a patient on whom he performed intravenous pyelography while investigating hypertension and albuminuria related to pregnancy ... The nail-patella locus and the ABO blood group locus ( 110300 ) are linked ...

11. David's NPS Page A British page written by a spouse and parent of nail patella syndrome patients, giving a brief description of the syndrome and some links to further information. http://www.btinternet.com/~david.g0tlt/nps/nps.html

12. NAIL-PATELLA SYNDROME : Contact A Family - For Families With Disabled Children: Increased fluid pressure within the eye (Glaucoma) may occur in some people with nail patella syndrome. NAILPATELLA SYNDROME UK. http://www.cafamily.org.uk/Direct/n15.html

printer friendly NAIL-PATELLA SYNDROME home more about us in your area conditions information ... how you can help search this site Did you find this page helpful? yes no Nail-Patella syndrome: Hereditary-Osteo-Onycho-Dysplasia (HOOD); Fong's disease; Turner-Kieser syndrome This is a rare inherited condition, and those affected have small or absent kneecaps, and underdeveloped, brittle or ridged nails. There can be mild or moderate contractures around the joints, particularly at the elbows, where there can be dislocation of the elbow joint. Some joints, instead of having contractures, can be more mobile. Children with the condition can be born with club foot (talipes). Surgery to correct joint problems is sometimes required. In the eyes, the irises are normally shaped, but show an unusual 'shamrock' pattern of colour. Kidney problems can occur in some people when they are adults, with leakage of protein in the urine, and sometimes limb swelling (oedema). Sometimes a kidney biopsy is necessary to establish the degree of renal disease. It is unusual for kidney failure to occur in nail-patella syndrome. Increased fluid pressure within the eye ( Glaucoma ) may occur in some people with nail patella syndrome.

13. Your Search: processing requests nail patella syndrome Worldwide. nail patella syndrome Worldwide The homepage of NailPatella Syndrome Worldwide, the only non-profit serving the needs of people with NPS. http://www.i-une.com/cgi-bin/meta/search.cgi?lang=en&keywords=Nail Patella S

14. Nail Patella Syndrome nail patella syndrome. nail patella syndrome information concerning treatment, prevention, diagnosis, email groups, support groups, personal stories. http://www.ability.org.uk/Nail_Patella_Syndrome.html

Our Aims Services Stats ... Z Nail Patella Syndrome Nail Patella Syndrome - information concerning treatment, prevention, diagnosis, email groups, support groups, personal stories. Nail Patella Syndrome -A Patient-written site about a genetic syndrome that affects the joints, eyes and kidneys with links to other resources. Limb Anomalies Webmaster . Site Design by Ability "see the ability, not the disability" Acknowledgments

15. Nail Patella Syndrome - Information / Diagnosis / Treatment / Prevention home genetic disorders nail patella syndrome nail patella syndrome. Information • Diagnosis • Treatment • Prevention. External http://www.healthcyclopedia.com/genetic-disorders/nail-patella-syndrome.html

Home Health cyclopedia All Topics by Category The Good Health Search Engine Health Conditions A-Z Gurus ... genetic disorders > nail patella syndrome Nail Patella Syndrome Information / Diagnosis / Treatment / Prevention External links (marked with an arrow ) open in a new window. This site is a web directory and does not offer medical advice. We cannot take responsibility for information found on listed sites. This Page Medical Definition Health News Web Directory: Medical Definition: University of Newcastle-upon-Tyne Medical Dictionary: "nail-patella syndrome" Health News: Search millions of published articles for news on Nail Patella Syndrome Modern Medicine Aging The Ardell Wellness Report HealthFacts Medical Post Medical Update Men's Health and the National Women's Health Report Note: Subscription required to access the full text of articles. Web Directory: Nail Patella Syndrome Worldwide The home page of Nail-Patella Syndrome Worldwide, the only non-profit serving the needs of people with Nail-Patella Syndrome. Includes information on the syndrome and the work of the organization. David's NPS Page A British page written by a spouse and parent of Nail Patella syndrome patients, giving a brief description of the syndrome and some links to further information.

16. Nail Patella Syndrome - Eurorad - Clinical Case 1303 - Resident teaching files,radiology,nail patella syndrome,Iliac horns and dysplastic fingernails.,nail patella syndrome ,EAR,ECR,elearning,elearning. http://www.eurorad.org/case.cfm?uid=1303

17. Nail-Patella Syndrome / Family Village nail patella syndrome Worldwide 1658 E. Capitol Expressway PMB 212 San Jose, CA 95121 Email npsw@nailpatella.org Web http//www.nailpatella.org/. http://www.familyvillage.wisc.edu/lib_nail-patella.html

Nail-Patella Syndrome Who to Contact Where to Go to Chat with Others Learn More About It Web Sites ... Search Google for "Nail-Patella Syndrome" Who to Contact Nail Patella Syndrome Worldwide 1658 E. Capitol Expressway PMB #212 San Jose, CA 95121 E-mail: npsw@nailpatella.org Web: http://www.nailpatella.org/ Where to Go to Chat with Others OurNPSgroup · NPS We are an open discussion forum for people with NPS that is owned solely by its members. The group is not affiliated with NPSW although some members may be. An educational discussion group for people with NPS or people dealing with friends and family who have NPS. It is a safe place where we can go to openly tell our NPS stories, voice our concerns and share our experiences without sifting through hundreds of non-NPS messages. NPSW Forum for people with NPS to address questions and concerns to the Nonprofit organization established for the betterment of the NPS community. Welcome to Nail Patella Syndrome Worldwide. Learn More About It Nail-Patella FAQ NPS - Ped Base Link between glaucoma and NPS Web Sites Nail Patella Syndrome Worldwide Nail Patella Syndrome Website This is an informational site about Nail Patella Syndrome, with a superb guestbook written by people with this rare disorder, photos, x-rays, and links to related sites.

18. Nail Patella Syndrome nail patella syndrome. nail patella syndrome Worldwide The homepage of Nail-Patella Syndrome Worldwide, the only non-profit serving the needs of http://www.health-nexus.com/nail_patella_syndrome.htm

Health-Nexus.Net Health-Nexus.Org The #1 Health information site Home ... Up Search Health-Nexus for: Match ALL words Match ANY word Email this page to a friend ! Post a question or comment on our Message Board Home Page Health Specialties Health News ... Alternative Health Options Substance Abuse Animal Health Search: Books Magazines Video Keywords: Find it Here Nail Patella Syndrome Nail Patella Syndrome Worldwide The homepage of Nail-Patella Syndrome Worldwide, the only non-profit serving the needs of ... Nail Patella Syndrome Worldwide The homepage of Nail-Patella Syndrome Worldwide, the only non-profit ... Classic Manifestations ... Nail Patella Syndrome, A Thumbs Up (TM) Look At NPS, My name is Carol Ferensak. ... Click on my picture to read my personal NPS story, About Nail Patella Syndrome ... ... Nail-Patella Syndrome - Rare Disorders - Medstudents A review about Nail-Patella Syndrome, including the genetics, incidence, pathophysiology, ... de Araujo Medstudents' Homepage Nail-Patella Syndrome Introduction Nail-Patella Syndrome is also known as ... David's NPS Page A British page written by a spouse and parent of Nail Patella syndrome patients, giving a brief description of the syndrome and some links to further information.

19. Nail Patella Syndrome Articles, Support Groups, And Resources nail patella syndrome articles, support groups, and resources for patients from Med Help International (www.medhelp.org). nail patella syndrome. http://www.medhelp.org/HealthTopics/Nail_Patella_Syndrome.html

[Health Topics A-Z] A B C D ... Z Nail Patella Syndrome Support Groups: Nail Patella Syndrome Networking/Support Group [Med Help Home] [Library Search] [Medical Forums] ... [Patient Network] Revised: 6/2/2004

20. Nail Patella Syndrome nail patella syndrome Important It is possible that the main title of the report nail patella syndrome is not the name you expected. http://my.webmd.com/hw/health_guide_atoz/nord567.asp

var guid_source = ""; var guid_source_id = ""; //unused var encodedurl = ""; WebMD Today Home WebMD News Center Member Services WebMD University My WebMD Find a Physician Medical Info Check Symptoms Medical Library Quizzes, Calculators Clinical Trials ... Women, Men, Lifestyle Who We Are About WebMD Site Map You are in Medical Library Choose a Topic Our Content Sources Ask A Question Clinical Trials Health Guide A-Z Health Topics Symptoms Medical Tests Medications ... For a Complete Report Nail Patella Syndrome Important It is possible that the main title of the report Nail Patella Syndrome is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report. Synonyms Fong Disease Onychoosteodysplasia NPS Turner-Kieser Syndrome Hereditary Onychoosteodysplasia (HOOD) Disorder Subdivisions None General Discussion Nail-patella syndrome (NPS) is a rare genetic disorder that is usually apparent at birth or during early childhood. Although the symptoms and physical characteristics associated with NPS may vary, characteristic abnormalities tend to include improper development (dysplasia) of the fingernails and toenails; absence (aplasia) and/or underdevelopment (hypoplasia) of the knee caps (patellae); underdevelopment of certain bones and/or webbing of skin at the bend of the elbow(s); and/or abnormal projections of bone from the upper (superior) portion of both sides of the hipbone (bilateral iliac horns). In addition, some individuals within certain families (kindreds) may have abnormally increased fluid pressure of the eyes (glaucoma). The condition results due to progressive blockage of the outflow of fluid (aqueous humor) from the front chamber of the eyes (open-angle glaucoma). Without appropriate treatment, the gradual increase in fluid pressure may cause increased narrowing of visual fields and eventual blindness. Other eye (ocular) abnormalities may also be associated with NPS. For example, in some affected individuals, the inner margin (pupillary margin) of the colored portion of the eyes (irides) may appear abnormally dark (hyperpigmentation) and "cloverleaf shaped" (Lester iris).

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