41. The Health Library — Genetics And Birth Defects nail patella syndrome. Frequently Asked Questions Concerning nail patella syndromeNailPatella Syndrome Worldwide. NailPatella SyndromeOMIM, NCBI. http://healthlibrary.stanford.edu/resources/internet/bodysystems/genetics4.html

Diseases and Disorders Use these links to jump directly to your topic of interest: Birth Defects (General) Cardiovascular Defects Chromosome Disorders Connective Tissue Disorders ... Nervous System Defects Genetics and Birth Defects: Page 1 Page 2 Page 3 Page 5 Chromosome Disorders and Other Multiple Abnormalities Chromosomal Abnormalities:March of Dimes Introduction to Chromosome Abnormalities:Chromosome Deletion Outreach Angelman Syndrome Angelman Syndrome:NINDS Facts About Angelman Syndrome:Angelman Syndrome Foundation Genes and Disease:Angelman Syndrome:NCBI Angelman Syndrome:GeneReviews, University of Washington Beckwith Wiedemann Syndrome Questions and Answers About Living With Beckwith-Wiedemann Syndrome:National Cancer Institute Info for New Families:Beckwith Wiedemann Support Network Beckwith-Wiedemann Syndrome:GeneReviews, University of Washington Bloom Syndrome Bloom's Syndrome:Jewish Genetic Diseases Bloom Syndrome:OMIM, NCBI Cornelia de Lange Syndrome FAQs About CdLS:Cornelia de Lange Syndrome Foundation Treatment Protocols for CdLS:Cornelia de Lange Syndrome Foundation Cornelia de Lange Syndrome:OMIM, NCBI Cri du Chat Syndrome What is Cri du Chat Syndrome?:Cri du Chat Support Group of Australia

42. BCM - Developmental Biology - Brendan Lee 1998). Mutations in LMX1B cause abnormal skeletal patterning and renaldysplasia in nail patella syndrome. Nature Genetics 194750. http://www.bcm.tmc.edu/db/db_fac-lee.html

Brendan Lee E-mail: blee@bcm.tmc.edu Associate Professor, Baylor College of Medicine Associate Investigator , Howard Hughes Medical Institute B.S., City University of New York, Brooklyn College, 1986 M.D./Ph.D., State University of New York Health Science Center at Brooklyn, 1993 Postdoc, Mount Sinai School of Medicine, NY, 1990-91 Fellow, Baylor College of Medicine, Houston, TX, 1995-98 Genetic pathways that specify development and homeostasis: translational studies of skeletal and kidney development, and therapy for metabolic diseases and In contrast to developmental pathways, much basic information is already available in well studied biochemical pathways that are critical for homeostasis, such as the urea cycle. With this already in hand, we have attempted to translate the basic information into stable isotope based metabolic protocols in urea cycle patients to develop new tools for diagnosis and clinical management. By using this unique human disease model and physiologic tools that measure the in vivo activity of this pathway, we are asking questions about the interaction of the urea cycle and other biochemical pathways that constitute key gene-nutrient interactions during postnatal growth and development. The ultimate goal is to translate information from these well studied pathways into treatment. This is the focus of our gene replacement studies using helper-dependent adenoviral vectors in urea cycle disorders. An integral component of this is work focused on understanding and preventing the host innate immune response and acute toxicity associated with adenovirus treatment. The spectrum of my research program extends from gene identification in human disease, to correlating mechanisms of disease with normal biological processes, to measuring and manipulating these pathways for diagnosis and treatment in humans and in animal models.

43. Nail Patella Syndrome Tips for printing. nail patella syndrome Special Resources SOS Askexperts or consultants for information nail patella syndrome. 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 ...

44. Health Library - Nail Patella Syndrome Advanced Search. nail patella syndrome. Nailpatella syndrome (NPS) is a rare geneticdisorder that is usually apparent at birth or during early childhood. http://www.stjudemedicalcenter.org/library/healthguide/IllnessConditions/topic.a

45. Nail-Patella Syndrome Please visit our Sponsors. NailPatella Syndrome. Alan's nail patella syndromePage - devoted to raising awareness to this rare genetic condition. http://www.cannylink.com/diseasenailpatellasundrome.htm

Search mode: "AND" "OR" Nail-Patella Syndrome Alan's Nail Patella Syndrome Page - devoted to raising awareness to this rare genetic condition. Nail Patella Syndrome - genetic condition affecting, finger nails, knees, elbows and eyes. Pictures included. Nail-Patella Syndrome - information on this rare congenital disorder includes photos, links and a guestbook where people with NPS have told their stories. Back to The Cannylink home page You can e-mail us at Webmaster@cannylink

46. Eddys With Fingernail Dysplasia (Nail Patella Syndrome) Eddys with fingernail dysplasia (nail patella syndrome). From Carol Ferensak (PACALI@aol.com)Date 17 Apr 2002 Time 080210 Remote Name ins.asinternet.net. http://www.eddyfamily.com/research/Research/00000040.htm

Reply Next Previous Up Eddys with fingernail dysplasia (Nail Patella Syndrome) From: Carol Ferensak (PACALI@aol.com) Date: 17 Apr 2002 Time: Remote Name: ins.asinternet.net Comments http://hometown.aol.com/PACALI/npspage.html for more information. The site also includes links to a discussion/support group and a guestbook where hundreds of people from all over the world have told their NPS stories and histories. If you have questions or would like more information, please e-mail me at: PACALI@aol.com or CarolJLF@aol.com Sincerely, Carol Lyon Ferensak (daughter of Mariel June Eddy Lyon b. June 30, 1925) Last changed: April 17, 2002

47. Re: Eddys With Fingernail Dysplasia (Nail Patella Syndrome) Re Eddys with fingernail dysplasia (nail patella syndrome). From Carol FerensakDate 02 Jan 2003 Time 114618 Remote Name ins.asinternet.net. Comments. http://www.eddyfamily.com/research/Research/000000a2.htm

Reply Next Previous Up Re: Eddys with fingernail dysplasia (Nail Patella Syndrome) From: Carol Ferensak Date: 02 Jan 2003 Time: Remote Name: ins.asinternet.net Comments Since posting this message, I've located several other distant relatives with Nail Patella Syndrome. If there are any other Eddy descendants who think they might have this dosorder, please visit my website at http://hometown.aol.com/PACALI/npspage.html and feel free to join our support/discussion group or if you'd prefer, e-mail me at: PACALI@aol.com Sincererly, Carol Ferensak Descendant of William Eddye, Vicar of Cranbrooke, Kent, England. Last changed: January 02, 2003

48. Mioti: Medical Condition Condition nail patella syndrome. NORD nail patella syndrome. Information fromthe National Organization for Rare Disorders. OMIM nail patella syndrome. http://www.mioti.com/cat/condition/condition.asp?Cat=NailPatella

49. Health Library - Nail Patella Syndrome Saint Luke's Health System eLibrary. nail patella syndrome. Self Help Clearinghouse.nail patella syndrome Networking/Support Group. http://hvelink.saint-lukes.org/library/healthguide/SelfHelp/topic.asp?hwid=shc29

50. Directory :: Look.com nail patella syndrome (9) Best Bets. NPS Information about nail patella syndrome,what it is, a look at the gene and links to resources and support groups. http://www.look.com/searchroute/directorysearch.asp?p=519899

51. Health Library - Nail Patella Syndrome Hometown commitment. nail patella syndrome. Nailpatella syndrome (NPS) is a raregenetic disorder that is usually apparent at birth or during early childhood. http://www.phoebeputney.com/library/healthguide/IllnessConditions/topic.asp?hwid

52. Glomerular Basement Membrane (GBM) Disorders nail patella syndrome, Some of these disorders are the subject of research inEdinburgh more information. Common abnormalities in nail patella syndrome http://renux.dmed.ed.ac.uk/EdREN/EdRenINFObits/GBMdisorders.html

53. Home An informational site to help educate people with nail patella syndromeand their doctors. Includes nail patella syndrome. Other http://nail-patella-syndrome.healingwell.com/

Free Web space and hosting - healingwell.com Home Page About Page Photo Page ... Favorite Links Nail Patella Syndrome Other names for Nail-Patella Syndrome include NPS, Iliac Horn Syndrome, Hereditary Onycho Osteo Dysplasia (HOOD), Fong Disease and Turner-Kieser Syndrome. Nail Patella Syndrome is a rare genetic disorder involving nail and skeletal deformities (among a host of other related anomalies) that occurs in approximately 2.2 out of every 100,000 people. It is transmitted as a simple autosomal dominant characteristic in the ABO blood group (Autosomal dominant means that you only have to inherit one copy of the gene to get it). It also means that there is no such thing as an unaffected carrier, and NPS CAN NOT skip a generation. In cases where there seems to be no previous family history of NPS, it is thought to be caused by a sporadic gene mutation (which is probably how it began in all families at one time or another). Once NPS is in a family, the risk of transmitting the disorder from parent to offspring is 50% for each pregnancy, regardless of the sex of the child, with females being affected approximately 10% more often. The gene for NPS, which was just recently discovered, is located on Chromosome 9q34 and is called LMX1B.

54. Pediatric Database - Nail-Patella Syndrome Pediatric database looks at the epidemiology and pathogenesis of this disease. Learn about prognoses, and find related links. http://www.icondata.com/health/pedbase/files/NAIL-PAT.HTM

Pediatric Database (PEDBASE) Discipline: GU Last Updated: 6/05/94 NAIL-PATELLA SYNDROME DEFINITION: A multisystem disorder characterized by dystrophic nails, hypoplastic or absent patellae, and renal disease. EPIDEMIOLOGY: incidence: 2.2/100,000 age of onset: risk factors: familial - autosomal dominant chrom.#: 9q34 gene: ? PATHOGENESIS: 1. Background disorder results in a secondary glomerulopathy unknown etiology but may be a disorder of collagen with an abnormality in the synthesis, assembly, or degradation of collagen CLINICAL FEATURES: 1. Renal Manifestations (50%) 1. Major microscopic hematuria edema, hypertension 2. Minor renal stones congenital malformations - vesicoureteral reflux, atrophy, hypoplasia, duplications 3. Complications Nephritic Syndrome (edema, hypertension, azotemia, oliguria) Nephrotic Syndrome (edema, hypoalbuminemia, hyperlipidemia) Chronic Renal Failure (CRF) 2. Musculoskeletal Manifestations 1. Nails (80-90%) dystrophic finger and toenails absent, discoloured, koilonychia, longitudinal ridges, triangular lunulae changes are symmetric 2. Patella (60%)

55. Nail-patella Syndrome a CHORUS notecard document about nailpatella syndrome nail-patella syndrome. Fong syndrome, onycho-osteodysostosis http://chorus.rad.mcw.edu/doc/00286.html

CHORUS Collaborative Hypertext of Radiology Musculoskeletal system Feedback Search nail-patella syndrome Fong syndrome, onycho-osteodysostosis autosomal dominant Features: abnormal fingernails absent/hypoplastic patella defects in radial head iliac horns (bony processes along posterior surfaces of iliac bones) discoloration of iris Charles E. Kahn, Jr., MD - 2 February 1995 Last updated 14 March 2001 Medical College of Wisconsin

56. Nail-Patella Syndrome - Interesting Images - Medstudents Hands some hypoplastic nails Knees X-ray - absence of patella bilaterallyFor a more detailed informations about nail-patella syndrome. http://www.medstudents.com.br/image/genet/nailpate/nailpate.htm

Images in Genetical Disorders Hands - some hypoplastic nails Knees X-ray - absence of patella bilaterally For a more detailed informations about Nail-Patella Syndrome If you have suggestions or comments send an e-mail to images@medstudents.com.br Back to Interesting Images Back to Images in Genetical Disorders Back to Medtudents' Homepage

57. Rd.com: A general discussion about nailpatella syndrome, including its alternate names. http://www.rd.com/common/nav/index.jhtml?articleId=8612551

58. Classic Manifestations Woman with nailpatella syndrome shares her story about living with this rare genetic disorder. Includes research links. http://members.aol.com/PACALI/npspage.html

htmlAdWH('7008222', '120', '30'); htmlAdWH('7004796', '234', '60'); Main Create Edit Help 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

59. Paul R. Lichter, M.D., Publications Lichter PR, Richards JE, Downs CA, Stringham HM, Boehnke M, Farley F. Cosegregationof open-angle glaucoma and the nail-patella syndrome. http://www.kellogg.umich.edu/bios/lichter_pubs.html

Paul R. Lichter, M.D. E-mail: plichter@umich.edu Research Representative Publications Lichter PR. Genetic clues to glaucoma's secrets: The L Edward Jackson Memorial Lecture. Part 2. Am J Ophthalmol 1994;117:706-25. Lichter PR, Richards JE, Downs CA, Stringham HM, Boehnke M, Farley F. Co-segregation of open-angle glaucoma and the Nail-Patella Syndrome. Am J Ophthalmol 1997;124:506-515. Lichter PR, Richards JE, Downs CA, Stringham HM, Boehnke M, Farley F. Co-segregation of open-angle glaucoma and the Nail-Patella Syndrome. Am J Ophthalmol 1997;124:506-15. Richards JE, Ritch R, Lichter PR, Rozsa FW, Stringham HM, Caronia RM, et al. Novel trabecular meshwork inducible glucocorticoid response mutation in an eight-generation juvenile-onset primary open-angle glaucoma pedigree. Ophthalmology 1998;105:1698-1707. Vollrath D, Jaramillo-Babb VL, Clough MV, McIntosh I, Scott K, Lichter PR, et al. Loss-of-function mutations in the LIM-homeodomain gene, LMX1B, in Nail-Patella Syndrome. Hum Mol Genet 1998;7:1091-8. Rozsa FW, Shimizu S, Lichter PR, Johnson AT, Othman MI, Scott K, Downs CA, Nguyen TD, Polansky J, Richards JE. GLC1A mutations point to regions of potential functional importance on the TIGR/MYOC protein. Mol Vis 1998;4:20.

60. Nail-patella Syndrome nailpatella syndrome. nail-patella syndrome, is a genetic disease of the connectivetissue that produces defects in the fingernails, knee caps, and kidneys. http://www.healthatoz.com/healthatoz/Atoz/ency/nail-patella_syndrome.html

Encyclopedia Index N Home Encyclopedia Encyclopedia Index N Nail-patella syndrome Definition Nail-patella syndrome, is a genetic disease of the connective tissue that produces defects in the fingernails, knee caps, and kidneys. Description Nail-patella syndrome is also known as Fong Disease, Hereditary Onycho-Osteodysplasia (H.O.O.D.), Iliac Horn Disease, and Turner-Kieser syndrome. Patients who have nail-patella syndrome may show a variety of physical defects. The hallmark features of this syndrome are poorly developed fingernails, toenails, and patellae (kneecaps). Other common abnormalities include elbow deformities, abnormally shaped pelvis bone (hip bone), and kidney (renal) disease. Less common medical findings include defects of the upper lip, the roof of the mouth, and unusual skeletal abnormalities. Skeletal abnormalities may include poorly developed scapulae (shoulder blades), sideways bent fingers (clinodactyly), clubfoot scoliosis , and unusual neck bones. There are also other effects, such as thickening of the basement membrane in the skin and of the tiny clusters of capillaries (glomeruli) in the kidney. Scientists have recognized an association between nail-patella syndrome and colon cancer . Nail-patella syndrome is associated with open-angle glaucoma , which, if untreated, may lead to blindness. Patients may also have

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