61. Waardenburg Syndrome TypeIII waardenburg syndrome type III Authors Dr. Laurence Faivre, Prof. Upper limb involment in the Klein–waardenburg syndrome. Am J Med Genet 1982; 11 425433. http://orphanet.infobiogen.fr/data/patho/uk-WS3.html

Waardenburg syndrome type III Authors: Dr. Laurence Faivre, Prof. Michel Vekemans Scientific editor: Prof. Didier Lacombe Date of creation: December 1997 Date of last update: May 2003 Name of the disease and synonyms Waardenburg syndrome type III (WS III) Waardenburg–Klein syndrome Waardenburg syndrome with limbs anomalies Names of excluded diseases WS I and II Other neurocristopathies Diagnostic criteria/Definition WS III is an extreme (severity/rarity) presentation of WS I Diagnostic criteria associate Limbs anomalies: hypoplasia of the musculoskeletal system, flexion contractures, fusion of the carpal bones, syndactylies Facial dysmorphism, pigmentation anomalies and deafness in common with WS I. The dystopia of the canthi, as in type I, is also present. Differential diagnosis The diagnosis is based on the presence of limb anomalies and the other classical features. Incidence The incidence of WS III has not been estimated, but is much less frequent than the other types. Clinical description See Diagnostic criteria. Management and treatments Hearing aids and limbs physiotherapy are recommended.

62. Waardenburg Syndrome waardenburg syndrome. A hereditary disorder occurring in 14,000 live births, Waardenburg is characterized by facial abnormalities http://www.forwardface.org/misc_text/conditions/waarden.htm

Waardenburg Syndrome A hereditary disorder occurring in 1:4,000 live births, Waardenburg is characterized by facial abnormalities, Waardenburg syndrome is typified by congenital deafness, abnormal eye, skin and/or hair pigmentation, displacement of the inner folds of the eyelid, prominent nose and over development of eyebrows. Children with Waardenburg may have two different colored eyes or two colors in one eye and premature graying of their hair.

63. PharmGKB: Waardenburg's Syndrome Waardenburg s Syndrome. Alternate Names Klein Syndrome; Klein waardenburg syndrome; Klein s Syndrome; Kleinwaardenburg syndrome http://www.pharmgkb.org/do/serve?objId=PA446058&objCls=Disease

64. WAARDENBURG SYNDROME waardenburg syndrome. Int J Dermatol 1999;3865663. Transcription factor hierarchy in waardenburg syndrome regulation of MITF expression by SOX10 and PAX3. http://www.med.wayne.edu/dermatology/MichDerm Online 2002/31WAARDENBURG SYNDROME

CASE 31—WAARDENBURG’S SYNDROME Waardenburg’s Syndrome (WS) is a rare autosomal dominant syndrome characterized by pigmentary disturbances (skin, hair, iris), sensorineural hearing loss, and other developmental anomalies such as dystopia canthorum and blepharophimosis. Patients may not present with all clinical manifestations. WS occurs in 1/42,000 of the general population and 2% of the congenitally deaf population. The hearing loss in WS is sensorineural, may be unilateral or bilateral, and varies in severity. Dystopia canthorum is the most penetrant feature of WS type I; present in 99% of cases. The W index objectively diagnoses lateral displacement of the inner canthi. To calculate the W index: (1) Measure a, b, and c in mm; (2) Calculate X = (2a - 0.2119c - 3.909)/c; (3) Calculate Y = (2a - 0.2479b – 3.909)/b; (4) Calculate W = X + Y + a/b. WS type I is diagnosed if the average W of all affected family members is Pigmentary abnormalities of hair include a white forelock or premature graying. The white forelock may be present at birth or soon after.

65. Health - Conditions And Diseases - Genetic Disorders - Waardenburg Search Top Health Conditions and Diseases Genetic Disorders waardenburg syndrome See also Health Conditions and Diseases Rare Disorders (110). http://www.sedirectory.net/Health/Conditions_and_Diseases/Genetic_Disorders/Waar

66. PAX3 - Paired Box Homeotic Gene 3 (Waardenburg Syndrome 1) - Aka: WS1, HUP2 - Ca Summary Information. PAX3; Paired box homeotic gene 3 (waardenburg syndrome 1). Location 2q35. Aliases WS1, HUP2. Overview PAX genes http://www.cancerindex.org/geneweb/PAX3.htm

Cancer Genetics Web www.cancer genetics.org ; Paired box homeotic gene 3 (Waardenburg syndrome 1) (2q35) PAX3 Menu Summary Information - PAX3 Gene Database Entries for PAX3 Other PAX3 Related Resources t(2;13)(q35;q14) in Rhabdomyosarcoma ... Feedback / suggest a new topic for PAX3 Search: Summary Information PAX3; Paired box homeotic gene 3 (Waardenburg syndrome 1) Location: Aliases: Overview: PAX genes are a family of transcription factors essential to the genesis of a variety of tissues and organs. Mutations leading to a loss of function in PAX3 are found in people with Waardenburg Syndrome indicating that PAX3 is necessary for the correct formation of caudal neural crest derivatives and for the migration of myoblasts into the limbs. Mutations of PAX3 leading to gain of function when fused with the FKHR gene (another transcription factor) are associated with alveolar rhabdomyosarcomas. Return to PAX3 Contents Gene Database Entries for PAX3 OMIM GeneCard (Weizmann Institute) Human Gene Mutation Database (Cardiff, UK) Locus Link UniGene GenAtlas GDB ... Nomenclature (search for PAX3) Return to PAX3 Contents Other Related Resources Search Medline for related articles (PubMed) Medline Search: cancer AND gene AND (PAX3[TI] OR WS1[TI] OR HUP2[TI]) (PubMed) Limit search to: [Last Year] Limit search to: [Last 2 Years] Limit search to: [Reviews] Return to PAX3 Contents t(2;13)(q35;q14) in Rhabdomyosarcoma

67. GeneCards Disorder Information: Waardenburg Syndrome Type GeneCards Disorder Information waardenburg syndrome type. Search different databases containing disease information by clicking on the buttons below. http://genecards.bcgsc.ca/cgi-bin/disodisp?Waardenburg syndrome type

68. GeneCards Disorder Information: Waardenburg Syndrome Type I GeneCards Disorder Information waardenburg syndrome type i. Search different databases containing disease information by clicking on the buttons below. http://genecards.bcgsc.ca/cgi-bin/disodisp?Waardenburg syndrome type I

69. Waardenburg Syndrome waardenburg syndrome. I types. waardenburg syndrome is an inherited genetic disorder which may cause hearing loss and partial albinism. http://rarediseases.about.com/cs/waardenburgsynd/a/030704.htm

zJs=10 zJs=11 zJs=12 zJs=13 zc(5,'jsc',zJs,9999999,'') About Rare / Orphan Diseases Home Essentials ... Rare cancers zau(256,152,145,'gob','http://z.about.com/5/ad/go.htm?gs='+gs,''); Is it a Rare Disease? Rare Diseases A - B Rare Diseases C - D Rare Diseases E - H ... Help zau(256,138,125,'el','http://z.about.com/0/ip/417/0.htm','');w(xb+xb); Stay Current Subscribe to the About Rare / Orphan Diseases newsletter. zau(256,152,100,'hs','http://z.about.com/5/ad/hs.htm?zIhsid=00',''); Search Rare / Orphan Diseases Email to a friend Print this page Stay Current Subscribe to the About Rare / Orphan Diseases newsletter. Suggested Reading Internet links on Waardenburg syndrome About.com Deafness: Waardenburg syndrome Most Popular ALD and Lorenzo's Oil The Elephant Man's Bones Reveal Mystery Prune Belly (Eagle-Barrett) Syndrome Progeria Syndromes ... Mad Cow Disease and Humans What's Hot Autoimmune Kidney Disease Tourette Syndrome Christmas Disease Bugs, PANDAS, and Tics ... Dystonia and Botox Injections Waardenburg Syndrome From Mary Kugler Your Guide to Rare / Orphan Diseases Sign up for my Newsletter Classified by symptoms into 4 types Symptoms and types Waardenburg syndrome type 1 Waardenburg syndrome type 2 Waardenburg syndrome type 3 , or Klein-Waardenburg syndrome, is similar to type 1 but includes muscle contractures.

70. Waardenburg Syndrome waardenburg syndrome Guide picks. waardenburg syndrome Article describes waardenburg syndrome and its four types, its symptoms, diagnosis, and treatment. http://rarediseases.about.com/cs/waardenburgsynd/

zJs=10 zJs=11 zJs=12 zJs=13 zc(5,'jsc',zJs,9999999,'') About Rare / Orphan Diseases Home Essentials ... Rare cancers zau(256,152,145,'gob','http://z.about.com/5/ad/go.htm?gs='+gs,''); Is it a Rare Disease? Rare Diseases A - B Rare Diseases C - D Rare Diseases E - H ... Help zau(256,138,125,'el','http://z.about.com/0/ip/417/0.htm','');w(xb+xb); Stay Current Subscribe to the About Rare / Orphan Diseases newsletter. zau(256,152,100,'hs','http://z.about.com/5/ad/hs.htm?zIhsid=00',''); Search Rare / Orphan Diseases Waardenburg Syndrome Guide picks A genetic disorder resulting in hearing loss and eye and skin abnormalities. Waardenburg Syndrome Article describes Waardenburg syndrome and its four types, its symptoms, diagnosis, and treatment. From the About.com Guide to Rare/Orphan Diseases. NIDCD: Waardenburg Syndrome The National Institute on Deafness and Other Communication Disorders (U.S.) offers comprehensive information on the syndrome. About.com Deafness/Hard of Hearing: Waardenburg Syndrome Describes what Waardenburg syndrome looks like, how it affects hearing, and includes a photo of a child with the disorder. NORD: Waardenburg Syndrome Description of the types of Waardenburg syndrome, from the National Organization for Rare Disorders (U.S.).

71. WAARDENBURG SYNDROME (Search FastHealth.com) WAARDENBURG SYNDROME 18861979), Dutch ophthalmologist. Waardenburg published his description of Waardenburg s syndrome in 1951. The same syndrome had http://www.fasthealth.com/dictionary/w/Waardenburg_syndrome.php

Dictionary FastHealth Email This! n Dutch ophthalmologist. Waardenburg published his description of Waardenburg's syndrome in 1951. The same syndrome had been reported on by J. van der Hoeve in 1916 and D. Klein in 1950. FastNurse Drug Search Hospital Search Find a Physician ... Dead Links

72. NMAP: The UK's Gateway To High Quality Internet Resources In Nursing, Midwifery, Waardenburg s Syndrome. other Down Syndrome. waardenburg syndrome. This brief publicorientated fact sheet about Waardenburg http://nmap.ac.uk/browse/mesh/C0043008L0043008.html

low graphics Waardenburg's Syndrome other: Down Syndrome Waardenburg syndrome This brief public-orientated fact sheet about Waardenburg Syndrome is made available on the Web by the National Institute on Deafness and other Communication Disorders, which is part of the US National Institutes of Health. The leaflet explains what this condition is, the different types of Waardenburg Syndrome, and the causes of the condition. Waardenburg's Syndrome Patient Education Handout [Publication Type] Last modified: 27 May 2004

73. PAX3 CM950898, 45, tTTTCTT, Phe-Leu, waardenburg syndrome, 1. CM930568, 47, cAAC-CAC, Asn-His, waardenburg syndrome, 2. CM961089, 48, cGGC-CGC, Gly-Arg, waardenburg syndrome, 4. http://archive.uwcm.ac.uk/uwcm/mg/ns/1/120495.html

Nucleotide substitutions (missense / nonsense) Accession Number Codon Nucleotide Amino acid Phenotype Reference tTTT-CTT Phe-Leu Waardenburg syndrome cAAC-CAC Asn-His Waardenburg syndrome AACg-AAG Asn-Lys Craniofacial-deafness-hand syndrome cGGC-CGC Gly-Arg Waardenburg syndrome CCG-CTG Pro-Leu Waardenburg syndrome CGC-CTC Arg-Leu Waardenburg syndrome ATC-AAC Ile-Asn Waardenburg syndrome gATC-TTC Ile-Phe Waardenburg syndrome gATG-GTG Met-Val Waardenburg syndrome TCG-TTG Ser-Leu Waardenburg syndrome I cCAG-TAG Gln-Term Waardenburg syndrome cGTG-ATG Val-Met Waardenburg syndrome GGC-GCC Gly-Ala Waardenburg syndrome TCC-TTC Ser-Phe Waardenburg syndrome GGT-GAT Gly-Asp Waardenburg syndrome aGCC-ACC Ala-Thr Waardenburg syndrome tGAA-TAA Glu-Term Waardenburg syndrome cCGA-TGA Arg-Term Waardenburg syndrome gGAA-TAA Glu-Term Waardenburg syndrome cCAG-TAG Gln-Term Waardenburg syndrome TGGt-TGC Trp-Cys Waardenburg syndrome cCGC-TGC Arg-Cys Waardenburg syndrome cCGT-TGT Arg-Cys Waardenburg syndrome CGT-CAT Arg-His Waardenburg syndrome TGG-TAG Trp-Term Waardenburg syndrome tCAA-TAA Gln-Term Waardenburg syndrome CAGg-CAC Gln-His Waardenburg syndrome References 1 - Tassabehji (1995) Hum Mol Genet 2 - Hoth (1993) Am J Hum Genet ... J Med Genet HGMD

74. Qango : Health: Diseases And Conditions: W: Waardenburg Syndrome category Options Help. Home Health Diseases and Conditions W waardenburg syndrome, Suggest a Site. Health, etc. If you would http://www.qango.com/dir/Health/Diseases_and_Conditions/W/Waardenburg_Syndrome/

Chat Forums Free Email Personals Classifieds ... Help Qango Directory Waardenburg Syndrome all of Qango only this category Options Help Home Health ... W > Waardenburg Syndrome Suggest a Site Health, etc If you would like to suggest a site for this category please click here Home Health Diseases and Conditions ... W > Waardenburg Syndrome Suggest a Site Home Suggest a Site Search ... Login

75. Waardenburg Syndrome waardenburg syndrome. waardenburg syndrome is an inherited disorder associated with hearing loss and changes in skin and hair pigmentation. http://www.sciencedaily.com/encyclopedia/waardenburg_syndrome

Match: sort by: relevance date Free Services Subscribe by email RSS newsfeeds PDA-friendly format loc="/images/" A A A Find Jobs In: Healthcare Engineering Accounting College Contract / Freelance Customer Service Diversity Engineering Executive Healthcare Hospitality Human Resources Information Tech International Manufacturing Nonprofit Retail All Jobs by Job Type All Jobs by Industry Relocating? Visit: Moving Resources Moving Companies Mortgage Information Mortgage Calculator Real Estate Lookup Front Page Today's Digest Week in Review Email Updates ... Outdoor Living Encyclopedia Main Page See live article Waardenburg syndrome Waardenburg syndrome is an inherited disorder associated with hearing loss and changes in skin and hair pigmentation. The syndrome is named for Dutch ophthalmologist Petrus Johannes Waardenburg who first described it. Pigmentation changes may include irises of varying color ( heterochromia iridis ), or a patch of white or grey hair. Hearing loss may be absent, moderate, or profound. There are several subtypes of the syndrome, traceable to different genetic variations. Dystopia canthorum, a widened bridge of the nose because of lateral displacement of the inner canthus of each eye, is associated with type I. Type I is associated with mutations in the paired box gene 3 (PAX3) gene located at 2q35.

76. Deaf And Hard Of Hearing: Personal Waardenburg Syndrome Article. Personal waardenburg syndrome article. Posted by Mugwort on 4/9/2001, 627 pm 64.0.99.137. Its part of my disabilities issues site http://members2.boardhost.com/deafnhh/msg/27.html

Deaf and Hard of Hearing Post a Response Deaf and Hard of Hearing Personal Waardenburg syndrome article. Posted by Mugwort on 4/9/2001, 6:27 pm Its part of my disabilities issues site at http://www.internations.net/appellcore/main.htm. Link: Lynda Appell Core DisABILITIES Resources Responses: There are no responses to this message. Post a Response Your Name: Your Email: Subject: Message: Previous Message : Its part of my disabilities issues site at : http://www.internations.net/appellcore/main.htm. : Optional Link URL: Optional Link Title: Optional Image URL: Notify me by email of all message replies. Create your own message board, FREE! Boardhost Usage Terms

77. Identify Waardenburg Syndrome Type 2 Loci In Man Project Title Identify waardenburg syndrome type 2 loci in man. The research project is to identify additional waardenburg syndrome type 2 (WS2) loci in man. http://researchresources.bumc.bu.edu/abstract/1K23DC005182-01.htm

NIDCD - National Institute on Deafness and Other Communication Disorders Research Resources Abstract Grant Number: PI Name: MILUNSKY, JEFF M. PI Email: jmilunsk@bu.edu PI Title: Project Title: Identify Waardenburg syndrome type 2 loci in man Abstract: Thesaurus Terms: Waardenburg syndrome, congenital deafness, genetic disorder, genetic mapping, molecular biology, molecular genetics, patient oriented research family genetics, gene mutation, genetic marker, genetic screening, genome, genotype, nucleic acid sequence human subject, linkage disequilibrium, mass spectrometry, postdoctoral investigator Institution: BOSTON UNIVERSITY MEDICAL CAMPUS 715 ALBANY ST, 560 BOSTON, MA 02118 Fiscal Year: Department: PEDIATRICS Project Start: 27-AUG-2001 Project End: 30-JUN-2006 ICD: NATIONAL INSTITUTE ON DEAFNESS AND OTHER COMMUNICATION DISORDERS IRG: CDRC NIDCD - National Institute on Deafness and Other Communication Disorders Research Resources

78. Wauu.DE: Health: Conditions And Diseases: Genetic Disorders: Waardenburg Syndrom Wauu.DE Health Conditions and Diseases Genetic Disorders waardenburg syndrome. http://www.wauu.de/Health/Conditions_and_Diseases/Genetic_Disorders/Waardenburg_

Home Health Conditions and Diseases Genetic Disorders : Waardenburg Syndrome Search DMOZ-Verzeichnis: All Categories Categories Onlye Links: Human Gene Map An article about Waardenburg syndrome and its features, statistics and the gene pax3. http://www.ncbi.nlm.nih.gov/cgi-bin/SCIENCE96/gene?PAX3 National Library of Medicine Offers synonyms, a summary and a list of major features. NORD - Waardenburg Syndrome A general discussion about this disorder, followed by further resources. Pediatric Database A definition of Waardenburg syndrome followed by the epidemiology, pathogenesis, clinical features, investigations and management. http://www.icondata.com/health/pedbase/files/WAARDENB.HTM © 1998- 2002 Ein Service von Wauu.de UserNet.DE Linktip: MnogoSearch.ORG Map TopTen TopTen eng Aktuelle Linktips Mozilla 1.7 RC 1 Basteln 0190 Warner Free Rund ums Rad ... Fantasy - Shop Webmaster-Links Webspace Free Subdomain Service Merchandise Fun SUMA - Forum ... Abmahnungen œber Wauu Regeln Webmasterservice Impressum b

79. Waardenburg, Syndrome : Sites Et Documents Francophones syndrome http://www.chu-rouen.fr/ssf/pathol/waardenburgsyndrome.html

Waardenburg, syndrome Menu général CISMeF Synonyme(s) CISMeF Klein-Waardenburg, syndrome de ; Waardenburg type 2A, syndrome de ; Waardenburg type 2B, syndrome de ; Waardenburg type 4, syndrome de . Voir aussi mégacôlon congénital Arborescence(s) Waardenburg, syndrome Waardenburg's syndrome maladies et malformations congénitales, héréditaires et néonatales Position du mot-clé dans l' (les) arborescence(s) : Vous pouvez consulter toutes les ressources ou seulement les principales ou utiliser l' outil de recherche les recommandations les documents concernant l' enseignement les documents destinés aux patients Ou consulter ci-dessous une sélection des principales ressources : Qualificatifs : diagnostic guide ressources Waardenburg type 1, syndrome de [Par Dr Faivre L, Pr Vekemans M. Site éditeur Orphanet mots clés : incidence maladies rares signes et symptômes Waardenburg, syndrome ... génétique type(s) : * texte guide ressources association patients structure recherche ... Waardenburg type 2, syndrome de - synonymes : Waardenburg type 2A, syndrome de ; Waardenburg type 2B, syndrome de [Par Dr Faivre L, Pr Vekemans M.

80. Waardenburg, Syndrome : Arborescences MeSH Translate this page waardenburg, syndrome arborescences MeSH. Menu général CISMeF. Vous pouvez aussi consulter toutes les arborescences des mots http://www.chu-rouen.fr/navimesh/W/naviwaardenburgsyndrome.html

Waardenburg, syndrome : arborescences MeSH Menu général CISMeF Vous pouvez aussi consulter toutes les arborescences des mots clés utilisés dans CISMeF maladies et malformations congénitales, héréditaires et néonatales malformations malformations multiples Alagille, syndrome ... Zellweger, syndrome 28 janvier 2004 courriel Menu général CISMeF Haut de page © CHU de Rouen . Toute utilisation partielle ou totale de ce document doit mentionner la source.

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