61. ScienceDaily -- Browse Topics: Health/Conditions_and_Diseases/Genetic_Disorders/ nail patella syndrome A Medical Dictionary, Bibliography, And Annotated nail patella syndrome Worldwide The home page of Nail-Patella Syndrome http://www.sciencedaily.com/directory/Health/Conditions_and_Diseases/Genetic_Dis

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62. Qango : Health: Diseases And Conditions: N: Nail Patella Syndrome nail patella syndrome, all of Qango only this category, Options Help Home Health Diseases and Conditions N nail patella syndrome, Suggest a Site http://www.qango.com/dir/Health/Diseases_and_Conditions/N/Nail_Patella_Syndrome/

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63. Nail Patella Syndrome: A Review Of The Phenotype Aided By Developmental Biology nail patella syndrome (NPS) is an autosomal dominant condition affecting the nails, Keywords nail patella syndrome; LMX1B; glaucoma; renal failure http://jmg.bmjjournals.com/cgi/content/abstract/40/3/153

HOME HELP FEEDBACK SUBSCRIPTIONS ... TABLE OF CONTENTS Author Keyword(s) Vol Page [Advanced] This Article Full Text Full Text (PDF) Submit a response ... Citation Map Services Email this link to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal ... Cited by other online articles PubMed PubMed Citation Articles by Sweeney, E Articles by McIntosh, I Related Collections Genetics Journal of Medical Genetics BMJ Publishing Group REVIEW ARTICLE Nail patella syndrome: a review of the phenotype aided by developmental biology E Sweeney A Fryer R Mountford A Green and I McIntosh McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, 600 North Wolfe Street, Baltimore, MD 21287, USA Correspondence to: ABSTRACT Nail patella syndrome (NPS) is an autosomal dominant condition affecting the nails, skeletal system, kidneys, and eyes. Skeletal

64. Entrez PubMed nail patella syndrome (NPS) is an autosomal dominant disorder affecting developmentof the limb, kidney and eye. NPS is the result of heterozygous http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=1

65. Excite Italia - - Nail Patella Syndrome > Genetic Disorders > Conditions And Dis A British page written by a spouse and parent of nail patella syndrome patients Information about nail patella syndrome, what it is, a look at the gene, http://www.excite.it/directory/Health/Conditions_and_Diseases/Genetic_Disorders/

Aste eBay Mail AAA Relazioni Suonerie ... Directory Cerca con Excite Altre ricerche: Web Foto Directory Software makeAD("http://ad.tiscali.com","/SITE=IT.EX.EXCITE/AREA=SEARCH.HOME/POS=C1/LANG=IT/AAMSZ=468x60",468,60) Tutte le categorie ... Acquisti Affari Arte Casa Computer Consultazione Giochi Junior Notizie Regionale Salute Scienza Sport Tempo Libero STAMPA FOTO DIGITALI Prezzi imbattibili Consegna a casa Su Carta Kodak Cerca anche Servizi Mail e Rubrica Stampa Foto Fax SMS ... Internet Gratis Informazioni News Gossip Borsa Meteo ... Sport Tempolibero Cinema TV Oroscopo Automobili ... Eros Viaggi Offerte Prenota online Noleggia auto Relazioni Annunci personali Chat Newsgroup WEB ... Genetic Disorders Nail Patella Syndrome 5 siti nella categoria Nail Patella Syndrome 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. http://www.nailpatella.org Medstudents A review about nail-patella syndrome, including the genetics, incidence, pathophysiology, signs and symptoms, and prognosis. http://www.medstudents.com.br/raredi/...

66. Nail-Patella Syndrome - Rare Disorders - Medstudents A review about nailpatella syndrome, including the genetics, incidence,pathophysiology, signs and symptoms, and prognosis. http://www.medstudents.com.br/raredi/raredi3.htm

Mario Cesar Moreira de Araujo Medstudents' Homepage Nail-Patella Syndrome Introduction Nail-Patella Syndrome is also known as Iliac Horn Syndrome, Hereditary Onychoostedysplasia, Fong Disease or Turner-Kiser Syndrome. It is a rare multisystem genetic disorder. Incidence, Epidemiology, and Genetic The incidence of NPS is about 2-3/100.000 births and it haven’t any ethnic prevalence. Inheritance occurs as an autossomal dominant trait linked to ABO blood group locus. The risk of transmitting the disorder from affected parent to offspring is 50% , regardless of the sex of the child, with females being affected 10% more often. It is already determined that an abnormality on chromosome 9q34 is involved with NPS , but the exact gene is not identified yet. Pathophysiology The complete pathophysiology underlying NPS is not known. Probably, the musculoskeletal abnormalities are involved with synthesis, assembly, or degradation collagen disorder. Renal histology changes by light microscopy are nonspecific, with localized thickening of the capillary wall. Focal glomerular deposits of IgM and C3 may occur. The characteristic ultrastructural changes are localized areas of rarefaction of the glomerular basement membrane, with intramembranous deposits having the appearance and periodicity of collagen. There isn’t a exact period to presentation of NPS signs and symptoms, although it is much more common during childhood. They can be identify in two different systems :

67. Nail-Patella Syndrome - Interesting Images - Medstudents Images in Clinical Medice Photos from a patient with nailpatella 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

68. NAIL-PATELLA SYNDROME : Contact A Family - For Families With Disabled Children: Contact a Family is a UK charity for families with disabled children. We offerinformation on specific conditions and rare disorders. http://www.cafamily.org.uk/Direct/n15.html

printer friendly NAIL-PATELLA SYNDROME home how we can help medical information index of conditions ... how you can help 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.

69. Reader's Digest - Rd.com A general discussion about nailpatella syndrome, including its alternate names. http://www.rd.com/common/nav/index.jhtml?articleId=8612551

70. Www.kellogg.umich.edu/conditions/glaucoma/nailpate eMedicine nail-patella syndrome Article by Anna Choczaj-Kukula nail-patella syndrome - nail-patella syndrome (NPS), also known as hereditaryosteo-onychodysplasia (HOOD), is an uncommon genetically determined disease http://www.kellogg.umich.edu/conditions/glaucoma/nailpatella.html

71. EMedicine - Nail-Patella Syndrome : Article By Suzanne M Carter, MS nailpatella syndrome - nail-patella syndrome (NPS) is a well known autosomaldominant condition (OMIM 161200) characterized by nail dysplasia, http://www.emedicine.com/ped/topic1546.htm

(advertisement) Home Specialties Resource Centers CME ... Patient Education Articles Images CME Advanced Search Consumer Health Link to this site Back to: eMedicine Specialties Pediatrics Genetics And Metabolic Disease Nail-Patella Syndrome Last Updated: May 4, 2005 Rate this Article Email to a Colleague Synonyms and related keywords: NPS, Fong disease, NPS 1, onycho-osteodysplasia, Turner-Kieser syndrome, arthro-onychodysplasia, nephrotic syndrome, end-stage renal disease, ESRD, end-stage renal failure, , proteinuria AUTHOR INFORMATION Section 1 of 10 Author Information Introduction Clinical Differentials ... Bibliography Author: Suzanne M Carter, MS , Senior Genetic Counselor, Associate, Department of Obstetrics and Gynecology, Division of Reproductive Genetics, Montefiore Medical Center, Albert Einstein College of Medicine Coauthor(s): Susan J Gross, MD, FRCS(C), FACOG, FACMG , Codirector, Division of Reproduction Genetics, Associate Professor, Department of Obstetrics and Gynecology, Albert Einstein College of Medicine Suzanne M Carter, MS, is a member of the following medical societies:

72. Nail-Patella Syndrome nailpatella syndrome support groups, clinics with genetic counselors and geneticists. 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 , 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 September 30, 2004 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

73. Nail-patella Syndrome a CHORUS notecard document about nailpatella syndrome. http://chorus.rad.mcw.edu/doc/00286.html

CHORUS Collaborative Hypertext of Radiology Musculoskeletal system About CHORUS Search Feedback 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 26 May 2004 Related CHORUS documents: progeria (Hutchinson-Gilford) syndrome Apert syndrome Hurler's syndrome Marfan syndrome ... absent distal clavicle Search for related articles: AJR American Journal of Roentgenology PubMed : index to biomedical literature ... Medical College of Wisconsin

74. Nail-patella Syndrome nailpatella syndrome. Fong syndrome, onycho-osteodysostosis. autosomal dominant.Features. abnormal fingernails; absent/hypoplastic patella http://chorus.rad.mcw.edu/to-go/00286.html

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 Home Musculoskeletal system

75. Nail-patella Syndrome nailpatella syndrome, is a genetic disease of the connective tissue that producesdefects in the fingernails, knee caps, and kidneys. http://www.healthatoz.com/healthatoz/Atoz/ency/nail-patella_syndrome.jsp

76. THE MERCK MANUAL--SECOND HOME EDITION, Nail-Patella Syndrome In Ch. 146, Tubular The nailpatella syndrome is a rare hereditary disorder that results in abnormalitiesof the kidneys, bones, joints, and fingernails. http://www.merck.com/mmhe/sec11/ch146/ch146o.html

var externalLinkWarning = "The link you have selected will take you to a site outside Merck and The Merck Manuals.*n*nThe Merck Manuals do not review or control the content of any non-Merck site. The Merck Manuals do not endorse and are not responsible for the accuracy, content, practices, or standards of any non-Merck sources."; Search The Second Home Edition , Online Version Search Index A B C D ... Z Sections Accidents and Injuries Blood Disorders Bone, Joint, and Muscle Disorders Brain, Spinal Cord, and Nerve Disorders ... Women's Health Issues Resources Anatomical Drawings Multimedia Pronunciations Weights and Measures ... , Online Version Section Kidney and Urinary Tract Disorders Chapter Tubular and Cystic Kidney Disorders Topics Introduction Alport's Syndrome Bartter's Syndrome Cystinuria ... Medullary Sponge Kidney Nail-Patella Syndrome Nephrogenic Diabetes Insipidus Polycystic Kidney Disease Renal Glucosuria Renal Tubular Acidosis Nail-Patella Syndrome Buy The Book Print This Topic Email This Topic Pronunciations cystinuria diabetes insipidus dialysis medulla ... polycystic The nail-patella syndrome is a rare hereditary disorder that results in abnormalities of the kidneys, bones, joints, and fingernails. The gene that causes nail-patella syndrome is dominant. Commonly, people who have this syndrome have one or both kneecaps (patellas) missing, one of the arm bones (the radius) dislocated at the elbow, and the pelvic bone abnormally shaped. They have either no fingernails or poorly developed ones, with pitting and ridges. The irises of the eyes may be variably colored.

77. Nail-patella Syndrome CHC Wausau Hospital s Medical Library and Patient Education Center providesresearch services and healthcare information to physicians, http://www.chclibrary.org/micromed/00057730.html

Main Search Index Definition Description Causes ... Resources Nail-patella syndrome Definition Nail-patella syndrome, also known as onychoosteodysplasia, is a disease of the connective tissue that produces defects in the fingernails, bone joints, and kidneys. Description Patients who have nail-patella syndrome show a variety of physical defects. Among these are missing or poorly developed fingernails and patellae (kneecaps), a dislocated radius (one of the forearm bones) at the elbow, or an abnormally shaped pelvis bone (hip bone). Kidney (renal) disease is also seen. 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. The irises of the eye may have more than one color present. The eyes may also have cataracts and astigmatism Nail-patella syndrome is a rare genetic disease. The genetic mutation is an autosomal dominant mutation. This means that possession of only one copy of the defective gene is enough to cause disease. The defect has been mapped to chromosome 9 and may be related to the gene that codes for type 5 collagen. Some patients with this disease show no symptoms and are discovered to have the disease only when genetic studies trace family histories. The fingernails of these patients are usually poorly developed or missing. The index fingers and thumb are most commonly affected by this disease. Fingernails that are present may be small and concave and have pitting, ridges, splits, and discoloration. Effects are rarely seen on the toes. Either or both kneecaps may be missing. Abnormally formed kneecaps can take a variety of shapes. Since the kneecap stabilizes the knee, patients may have difficulty walking. The iliac crest of the hip bone usually has a pronounced flaring called iliac horns. Kidney disease may be present. Biopsy shows lesions that resemble those of inflammation of the clusters of capillaries in the kidneys (

78. Nail-patella Syndrome Definition - Medical Dictionary Definitions Of Popular Med Online Medical Dictionary and glossary with medical definitions. http://www.medterms.com/script/main/art.asp?articlekey=4500

79. Syndrome, Nail-patella Definition - Medical Dictionary Definitions Of Popular Me Online Medical Dictionary and glossary with medical definitions. http://www.medterms.com/script/main/art.asp?articlekey=5654

80. Nail-Patella Syndrome (Fong Disease) nailpatella syndrome (Fong Disease, Onychoosteodysplasia, Turner Kieser syndrome).nail-patella nail-patella syndrome nail-patella syndrome http://www.bdid.com/nps.htm

HOME Nail-Patella Syndrome (Fong Disease, Onychoosteodysplasia, Turner Kieser Syndrome) nail-patella NAIL-PATELLA SYNDROME nail-patella syndrome Hirschsprung-like aganglionosis of the colon in patients with nail patella ... HOME

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