21. NAIL PATELLA SYNDROME The nail patella syndrome (NPS), or hereditary onychoosteodysplasia (HOOD) isan autosomal A non-profit group, nail patella syndrome Worldwide Inc., http://www.hopkinsmedicine.org/nps/

NAIL PATELLA SYNDROME The Nail Patella Syndrome (NPS), or hereditary onycho-osteodysplasia (HOOD) is an autosomal dominant, pleiotropic disorder with features suggestive of a primary defect of connective tissue. Manifestations include dysplastic nails, absent or hypoplastic patellae, exostoses ("horns") of the ilia, dysplasia of the elbows, and, in some cases, nephropathy. You can find more clinical background by looking at the OMIM entry for NPS. Although first recognized as an inherited disorder in 1897, it was only with the identification of the gene in 1998 that it became clear that NPS is a disorder of dorso-ventral patterning (at least as it affects the limbs). A non-profit group, Nail Patella Syndrome Worldwide Inc., exists to promote awareness of NPS. Their website contains some of the most up to date medical information, together with details of past and future conferences, and fundraising. Illustrations of NPS Here are links to various affected body parts. More will be added in future. knees hands elbows The NPS Gene For an introduction to genetics and how NPS is inherited, click

22. Nail Patella Syndrome - Hands nail patella syndrome Hands. The severity of the nail dysplasia decreases fromthumb to fifth finger. AppleMark. Note also the clinodactyly of the fifth http://www.hopkinsmedicine.org/nps/hands.html

Nail Patella Syndrome - Hands The severity of the nail dysplasia decreases from thumb to fifth finger: Note also the clinodactyly of the fifth finger, the triangular lunulae and lack of creases over the distal joints of fingers 2-5. Detail of nail dysplasia on thumb: The severity of nail dysplasia is extremely variable. Nails may be small and concave, longitudinally grooved, abnormally split, pitted, softened, discoloured, or brittle. Toe nails are usually less affected than finger nails. Click to see NPS knees Click to see NPS pelvis Click to see NPS elbows Return to home page.

23. Nail Patella Syndrome - Wikipedia, The Free Encyclopedia nail patella syndrome. From Wikipedia, the free encyclopedia. POSSIBLE COPYRIGHTVIOLATION. If you have just labeled this page as a possible copyright http://en.wikipedia.org/wiki/Nail_Patella_Syndrome

You did it! Over US$240,000 was donated in the 21 day fund drive. Thank you for your generosity! You are still welcome to make a donation or purchase Wikimedia merchandise Nail Patella Syndrome From Wikipedia, the free encyclopedia. View 3 deleted edits Wikipedia does not have an article with this exact name. Start the Nail Patella Syndrome article Search for Nail Patella Syndrome in other articles. Look for Nail Patella Syndrome in Wiktionary, our sister dictionary project. Look for Nail Patella Syndrome in the Commons, our repository for free images, music, sound, and video. Look for pages linking to this page If you have created this page in the past few minutes and it has not yet appeared, it may not be visible due to a delay in updating the database. Try purge , otherwise please wait and check again later before attempting to recreate the page. If you created an article under this title previously, it may have been deleted. See candidates for speedy deletion for possible reasons. Retrieved from " http://en.wikipedia.org/wiki/Nail_Patella_Syndrome Views Article Discussion Edit this page Personal tools Create account / log in Navigation Main Page Community portal Current events Recent changes ... Donations Search Toolbox What links here Related changes Upload file Special pages ... About Wikipedia

24. Nail Patella Syndrome Nail Patella Syndrome and Glaucoma from University of Michigan Examined 24people with Nail - Patella syndrome in two families and found that more than http://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 ...

25. Blackwell Synergy - Cookie Absent nail patella syndrome Revisited 50 Years After Linkage Fifty years havepassed since nail patella syndrome (NPS) and the ABO blood group were shown to http://www.blackwell-synergy.com/doi/abs/10.1111/j.1529-8817.2005.00191.x

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26. Nail Patella Syndrome Nailpatella syndrome (NPS) is a rare genetic disorder that is usually apparentat birth or during early childhood. Although the symptoms and physical http://www.bchealthguide.org/kbase/nord/nord567.htm

var hwPrint=1;var hwDocHWID="nord567";var hwDocTitle="Nail Patella Syndrome";var hwRank="1";var hwSectionHWID="nord567-Header";var hwSource="en-caQ2_05";var hwDocType="Nord"; National Organization for Rare Disorders, Inc. 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).

27. Nail Patella Syndrome Articles, Support Groups, And Resources nail patella syndrome articles, support groups, and resources for patients fromMed Help International (www.medhelp.org) 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 International Search Medical Forums / Message Boards ... Site Map Revised: 9/7/2005

28. Kidney Resource Page As this site grows we are adding links specific to nail patella syndrome Frequently asked questions for nail patella syndrome add av folder (id av) http://links.nephron.com/diseases_categories/hereditary_nephritis/nail_patella

Home Links Physicians RNS and Renal Administrators ... Translate TEXT SEARCH STRUCTURED SEARCHES PubMed MeSH Nucleotide Journals PMC Books OMIN PopSet Taxonomy DNA Sequences Protein Sequences 3D Structures Complete Genomes Books CancerChromosomes Conserved Domains 3D Domains Gene GENSAT GEO Profiles GEO DataSets HomoloGene NCBI Web Site NLM Catalog OMIM PubChem BioAssay PubChem Compound PubChem Substance SNP UniGene UniSTS for: All Subjects Free Text obesity hypertension dialysis diabetes kidney kidney disease glomerulonephritis kidney failure vascular calcification All Journals N England J Med Clin Nephrol Curr Opin Nephrol Hypertens J Am Soc Nephrol Proc Eur Dial Transplant Assoc Semin Nephrol Kidney Int Kidney Int Suppl Am J Kidney Dis Nephrol Dial Transplant Other Citematch Search by Citation - Hubmed works with EndNote and newsreaders CR mg/dL AGE yrs W B F M MDRD GFR: mL/min/ 1.73 m LINKS HOME CKD ANEMIA VASC CALC ... FEATURES Recent articles about Nail Patella Syndrome Blood pressure lowering helpful after stroke Death toll of Chernobyl nuclear accident lower than originally projected A Japanese family with Alport syndrome associated with esophageal leiomyomatosis: genetic analysis of COL4A5 to COL4A6 and immunostaining for type IV collagen subtypes. Alport syndrome in southern Sweden. ... Whistle blower says drug industry cheated Medicaid Pubmed Central - Open Access Comparative distribution of the alpha 1(IV), alpha 5(IV), and alpha 6(IV) collagen chains in normal human adult and fetal tissues and in kidneys from X-linked Alport syndrome patients..

29. Nail Patella Syndrome nail patella syndrome information and links - add your link! http://www.doctorpage.com/findit/Diseases_and_Conditions/Nail_Patella_Syndrome/

doctorpage Diseases and Conditions Nail Patella Syndrome Displaying listings 1-11 Disorder affects joints and nails http://www.freep.com/news/health/qnail3.htm NORD - Nail Patella Syndrome Nail Patella Syndrome http://www.med.jhu.edu/nps/ Nail Patella Syndrome An educational site about a rare disorder involving deformities of the fingernails, knees, elbows and other joints as well as kidney disfunction, glaucoma and more. Site contains medical info, photos, x-rays, links to NPS research study, links to other NPS-related sites and a guestbook where over 200 people with NPS have told their NPS stories and family histories. http://members.aol.com/PACALI/npspage.html Nail Patella Syndrome Information about Nail Patella Syndrome including photos, x-rays, links to NPS research, other sites and a guestbook where others with NPS have told their stories. http://hometown.aol.com/PACALI/npspage.html Nail-Patella Syndrome A UK-based page devoted to this rare genetic disorder that can affect the hands, knees, elbows and kidneys. http://www.reck-bates.demon.co.uk/nps/

30. Frequently Asked Questions nail patella syndrome is a rare genetic disorder involving the bones, What isthe focus of current research on nail patella syndrome? http://www.geocities.com/nailpatella_syndrome_worldwide/faq.html

Concerning Nail Patella Syndrome (NPS) Below you will find a list of frequently asked questions about topics relating to Nail Patella Syndrome. This document contains information believed to be current as of September 2000. This document should not in any way be taken as medical advice. For that you should see a physician. In fact, you should assume that the statement that all information should be confirmed by your physician is implicitly present at the end of each answer. How to Use This Document: The questions and answers in this file should be considered a starting point in learning about Nail Patella Syndrome. None of the answers go into any great depth. The intent is that someone reading this file will then go on to other sources for more information having had a grounding in basic concepts of Nail Patella Syndrome. General Questions and Answers What is Nail Patella Syndrome (NPS)?

31. Nail Patella Syndrome Worldwide, Inc. nail patella syndrome Worldwide also publishes a newsletter and we will be lookingforward to quarterly publications in the future. http://www.geocities.com/nailpatella_syndrome_worldwide/nonprofit.html

Nail Patella Syndrome Worldwide is a federally recognized nonprofit organization dedicated to the support of individuals with Nail Patella Syndrome. Words from the Director / Board of Directors Information and Announcements Organization History In March 2000, the decision was made to actively pursue nonprofit status, and we have been inching forward since that time. In July 2000, interim committee heads were nominated and approved at the convention in Arlington, Texas. Since then, great strides have been made to move this group forward, thanks to the dedication and commitment from a great number of people. In July, 2001 at the convention in Palmdale, California, the first official Board of Directors was voted into office. The committees within the nonprofit have been hard at work since the Medical Conference held in Palmdale, California, in July of 2001. The revised Medical Brochure will go to print soon, giving people with NPS valuable information for both themselves and their physicians.

32. Penn State Faculty Research Expertise Database (FRED) nail patella syndrome, Osteo Onychodysplasia, Hereditary. OsteoOnychodysplasias,Hereditary, Syndrome, Nail-Patella. Syndrome, Osterreicher, Syndrome http://fred.hmc.psu.edu/ds/retrieve/fred/meshdescriptor/D009261

33. Nail Patella Syndrome (NPS) The nail patella syndrome is estimated to occur in newborns, during early Among the abnormalities associated with nail patella syndrome (NPS) the most http://www.ultimate-cosmetics.com/nail-disorders/nail-patella-syndrome.htm

Home Nail Disorders Nail Patella Syndrome Information on Nail Patella Syndrome (NPS) - Causes, Symptoms, Treatment Nail Patella Syndrome (NPS) Picture The Nail Patella Syndrome is estimated to occur in newborns, during early childhood or later in life. It has been recognized as a rare congenital and hereditary condition for over 100 years and inherited in an autosomal dominant manner. The incidence of NPS is approximately one in 50,000 and occurs throughout the world in all ethnic groups. This disease is complex to diagnose because it varies greatly between each individual and may include physical defects on arms and legs, kidney disease (nephropathy) and ocular disorders in up to 30 percent of the patients. Among the abnormalities associated with Nail Patella Syndrome (NPS) the most common are aplasia; absence of the kneecaps or hypoplasia; underdevelopment of the knee caps, as well as dysplastic nails, webbing of skin at the bend of the elbows, underdevelopment or abnormal projections of certain bones and elbow joints. The main characteristic presents brittle or ridged nails, small nail plates or dystrophic with triangular rather than half-moon shaped lunula of thumbs or indices and absent patellae (kneecaps).

34. Nail Patella Syndrome Complete online version of The Encyclopaedia of Medical Imaging including textand images from The Encyclopaedia of Medical Imaging s eight book volumes http://www.amershamhealth.com/medcyclopaedia/medical/Volume III 1/NAIL PATELLA

financial services our commitment our company Search Medcyclopaedia for: Search marked text (mark text before you click) Browse entry words starting with: A B C D ... amershamhealth.com Nail patella syndrome, an autosomal dominant disorder, also referred to as osteo-onychodysostosis, hereditary osteo-onychodysplasia (HOOD), or Fong's syndrome. In this disorder patients have dysplastic fingernails, hypoplastic or absent patellae, other bone deformities, iliac horns ( Fig.1 ), widespread soft tissue changes and renal dysplasia, sometimes leading to renal osteodystrophy and death. In the knee, asymmetric development of the femoral condyles and a sloping tibial plateau can be observed. The elbow may also reveal asymmetric development of the humeral condyles, hypoplasia of the capitulum, and subluxation or dislocation of the radial head ( Fig.2 ). The bilateral outgrowths from the posterior ilium ( iliac horns ) are virtually pathognomonic of nail-patella syndrome. Other bone changes can be evident in the shoulder, wrist, ankle and subtalar joints. DR/RB The Encyclopaedia of Medical Imaging Volume III 1 Nail patella syndrome, Fig. 1

35. Nail Patella Syndrome - St. Joseph Mercy, Ann Arbor Michigan nail patella syndrome St. Joseph Mercy Health System Hospitals serving AnnArbor, SE Michigan, Washtenaw County, Livingston County, Wayne County, http://www.sjmercyhealth.org/14721.cfm

@import url(default.css); Online Health Information Health Information - Rare Diseases and Disorders Back to Health Library Print This Page Email to a Friend National Organization for Rare Disorders, Inc. Nail Patella Syndrome Synonyms Disorder Subdivisions General Discussion Resources ... For a Complete Report 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).

36. Nail Patella Syndrome - St. Joseph Mercy, Ann Arbor Michigan nail patella syndrome St. Joseph Mercy Health System Hospitals serving AnnArbor, SE Michigan, Washtenaw County, Livingston County, Wayne County, http://www.sjmercyhealth.org/14722.cfm

@import url(default.css); Online Health Information Health Information - Support Groups Back to Health Library Print This Page Email to a Friend Self Help Clearinghouse Nail Patella Syndrome Nail Patella Syndrome Networking/Support Group This information is provided as a resource and does not constitute an endorsement for any group. It is the responsibility of the reader to decide whether a group is appropriate for his/her needs. For evidence-based information on diseases, conditions, symptoms, treatment and wellness issues, continue searching this site. Nail Patella Syndrome Networking/Support Group International network. Founded 1996. Support network for persons with nail patella syndrome to exchange information. Links to a research study and other NPS-related sites. Provides information and online chat. Guidelines available to help start a similar group. WRITE: NPS Networking/Support Group 67 Woodlake Dr. Holland, PA 18966 E-MAIL: PACALI@aol.com WEBSITE: http://www.members.aol.com/PACALI/npspage.html VERIFIED: 3/24/2004 The above information was "verified" as correct on the date at the end of each entry. Since American Self-Help Group Clearinghouse's database is extensive but staffing is limited and information for these organizations can change, it is not possible to keep every entry in American Self-Help Group Clearinghouse database completely current and accurate. Please check with the organizations listed for the most current information.

37. The DRM WebWatcher: Sotos Syndrome A Disability Resources Monthly guide to the best online resources about NailPatella Syndrome. nail patella syndrome (NPS). Updated 2/2004 http://www.disabilityresources.org/NAIL.html

Home Subjects States Librarians ... Contact Us The DRM WebWatcher Nail Patella Syndrome (NPS) Updated 2/2004 A B C D ... About/Hint/Link The Nail Patella Syndrome (also known as hereditary onycho-osteodysplasia, or HOOD) is a rare, inherited disorder that can cause nail and skeletal defects, small or absent kneecaps, "iliac horns" at the rear of the pelvis, renal disease, and other conditions. Nail-Patella Syndrome; NPS A clinical and genetic overview from the Online Mendelian Inheritance in Man (OMIM) database. Nail Patella Syndrome Worldwide Born from an online community, this newly founded nonprofit organization promotes awareness of NPS among professionals as well as the public. Its website includes frequently asked questions as well as information about the organization. Rare Disorders: Nail-Patella Syndrome This good, one-page overview from the Medstudents' Homepage in Brazil includes several photographs and a bibliography. Related Subjects Rare Disorders Resources in your state (c) 1997-2005 Disability Resources, inc.

38. R A V E N X::.....: Nail Patella Syndrome : News and Views on Education in Texas, Ecuador, Userland Frontier and other topicsthat interest the author. http://ravenx.editthispage.com/medinfo/nps

Nail Patella Syndrome Prev Next Medical Info Synonyms, key words and related terms: Iliac Horn Syndrome, Hereditary Onycho Osteo Dysplasia (HOOD), Fongs Disease, and Turner Kieser Syndrome, NPS, NPS1, Onychoosteodysplasia, Turner-Kieser syndrome, Nail-Patella syndrome. fingernail dysplasia, absent patellae, hypoplastic patellae, posterior conical iliac horns, radial head deformation, radial head luxation, Goodpasture disease, congenital permanent dislocation of the patella, CPDP Nail Patella Syndrome Worldwide™ Dr. McIntosh's Nail Patella site OMIN (Online Mendelian Inheritance in Man) NPS page eMedicine NPS page There is a high incidence of palmoplantar hyperhidrosis in NPS. DISCUSS Email this story Home Education Ecuador ... Feedback Search RavenX: Members Join Now Login

39. Nail Patella Syndrome - Wheeless' Textbook Of Orthopaedics nail patella syndrome. Steve Rowlands website graphic design at www.steverowlands.com http//www.DiamondSea.com © 2005 Data Trace Publishing Company. http://www.wheelessonline.com/ortho/nail_patella_syndrome

Duke Orthopaedics presents Wheeless' Textbook of Orthopaedics Site Index A - Z Search Site by Word Home Contact Us My Account Nail Patella Syndrome Steve Rowlands website graphic design at www.steverowlands.com http://www.DiamondSea.com

40. Nail Patella Syndrome UK Homepage nail patella syndrome UK (NPSUK) is a registered charity working to promoteawareness for a condition that is said to affect 1/50000 people. http://www.npsuk.org/

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