61. ãÊáÇÒãÉ æÑÏíäÈíÑÌ Waardenburg Syndrome The summary for this Arabic page contains characters that cannot be correctly displayed in this language/character set. http://www.werathah.com/deafness/waardenburg.htm

Waardenburg Syndrome íÑÌÚ ÇÓã åÐå ÇáãÊáÇÒãÉ Åáì ØÈíÈ ÇáÚíæä ÇáåæáäÏí ÇáÏßÊæÑ ÈØÑÓ ÌæåÇäÒ æÑÏíäÈíÑÌ (Dr. Petrus Johannes Waardenburg)æ ÇáÐí ÚÇÔ Èíä ÚÇãí (1886-1979) . ÍíË áÇÍÙ Ýí ÇÚÇã 1948 ä áæä Úíä ÈÚÖ ãä áÏíåã Õãã ÊÎÊáÝ Úä ÈÚÖåÇ ÇáÈÚÖ.æáßä ÇáÏßÊæ Ýæä åæÝ (Van der Hoeve)Ýí ÚÇã 1913 æÕÝ Êæãíä áÏíåã ÊÈÇÚÏ ãÚ ÕÛÑ Ýí ÇáÚíäíä .ßÐáß æÕÝ ÇáÏßÊæÑ ßáíä (Klein)ÚÇã 1947 ØÝá ÚãÑÉ ÚÔÑ ÓäæÇÊ æ Èå ÔíÈ Ýí äÇÕíÉ ÔÚÑ ÑÓå æ ãÚ ÈÞÚ ÈíÖÇÁ Ýí ÇáÌáÏ æ Úíä ÖíÞÉ ÒÑÞÇÁ æ áÏíå Õãã æ ÚíÈ ÎáÞí Ýí ÇáíÏ.æßÐáß æÕÝ ÇáÏßÊæÑ ÔÇå ( Shah Hirschsprung disease congenital sensorineural hearing loss ÈÞÚ ÈíÖÇÁ Ýí ÇáÌáÏ ãäÐ ÇáæáÇÏÉ Congenital leucoderma Pigmentary disturbances of the iris ÔíÈ Ýí äÇÕíÉ ÔÚÑ ÇáÑÓ Hair hypopigmentation Affected first-degree relative ÕÛÑ Ýí ÛÖÑæÝ ÌÇäÈí ÝÊÍÉ ÇáäÝ Hypoplasia of Alae Nasi Dystopia canthorum ÙåæÑ ÔíÈ ãÈßÑ(ÞÈá 30 ÓäÉ ãä ÇáÚãÑ) Graying Premature a b c X = (2 a c c Y = (2 a b b W = X + Y + a b æ åÐÇ ÇáäæÚ íÎÊáÝ Úä ÇáäæÚ Çáæá ÈÔßá ÓÇÓí ÈÚÏã æ ÌæÏ ÊÈÇÚÏ Èíä ÇáÚíäíä (dystopia canthorum).æ áßä åäÇß ÇÎÊáÇÝÇÊ ÈÓíØÉ ÎÇÕÉ Èíä äÓÈ ÇÍÊãÇá ÙåæÑ ÇáÚÑÇÖ ßãÇ Ýí ÇáÌÏæá ÍíË ä ÔÏÉ ÇáÕãã Úáì Ýí åÐÇ ÇáäæÚ ßÐáß äÓÈÉ ÇÎÊáÇÝ áæä ÇáÚíäíä Úä ÈÚÖ.æ ÈÔßá ÚÇã åÐÇ ÇáäæÚ ÇÞá ÔíæÚ Úä ÇáäæÚ Çáæá æ áßäå ßËÑ ãä ÇáäæÚ ÇáËÇáË æ ÇáÑÇÈÚ.æåÐÇ ÇáäæÚ íäÊÞá ÈÇáæÑÇËÉ ÇáÓÇÆÏÉ æ åæ äÇÊÌ Úä ØÝÑÉ Ýí ÇÍÏ ÇáÌíäÇÊ Úáì ÇáÐÑÇÚ ÇáÞÕíÑÉ áßÑæãæÓæã 3 æ íÓãì ÈÜ (microphthalmia-associated transcription factor (MITF) gene) æ áßä åÐÇ ÇáÌíä íÊÓÈÈ ÝÞÏ Ýí 15% ãä ÇáÍÇáÇÊ æ ÇáÈÇÞí ÝÇä ÇáÓÈÇÈ ÇáÌíäíÉ ÛíÑ ãßÊÔÝÉ ÈÚÏ.

62. Waardenburg Syndrome White markings on a ferrets head are often an indication of waardenburg syndrome. waardenburg syndrome is a genetic defect which results in the http://www.moonsweb.com/ferrets/001/pages/waardenburgsyndrome.shtml

Don't see what your looking for? Try the Search Form Waardenburg Syndrome Our model here is Dante. Dante is a sable blaze/badger. White markings on a ferrets head are often an indication of Waardenburg syndrome. Waardenburg syndrome is a genetic defect which results in the underdevelopment of the hearing mechanism of the inner ear. Many ferrets that are deaf have Waardenburg syndrome. The deafness is genetically linked with white markings on the face. This usually affects ferrets with "blaze" markings (white stripe on top of the head and a white bib) and those with "panda" markings (white head and bib, with no mask) and dark eyed whites. It's estimated that 75 percent of blaze and panda ferrets are deaf. Albinos Albinos are easily recognized by their white fur and red or ruby eyes. The coat color is not caused by the genetic defect of Waardenburg syndrome, but from a lack of pigment in the skin and eyes. Albino ferrets have abnormally small hearing mechanisms in their middle and inner ear, they can be hard of hearing but are not usually deaf. Photo taken with Olympus D-450 Zoom.

63. Waardenburg Syndrome - YourDictionary.com - American Heritage Dictionary Search Mamma.com for waardenburg syndrome . TYPE IN YOUR WORD CLICK GO! Search. Normal, Definitions, Short defs. (Pronunciation Key) http://www.yourdictionary.com/ahd/w/w0001200.html

Search Mamma.com for "Waardenburg syndrome" Search: Normal Definitions Short defs (Pronunciation Key) Waar·den·burg syndrome Listen: wôr dn-bûrg , vär n. A hereditary syndrome characterized by varying degrees of deafness and facial bone defects and by variation in pigmentation of the skin, hair, or eyes. [After Petrus Johannes Waardenburg (1886-1979), Dutch ophthalmologist.] Back to Search Back The American Heritage Dictionary of the English Language, Fourth Edition

64. Medical Experts - Waardenburg Syndrome Experts waardenburg syndrome Directory of Experts, Legal Consultants, Expert Witnesses, Forensics and Litigation Support Services in waardenburg syndrome. http://www.hg.org/experts/Medical-Experts-Waardenburg-Syndrome.html

#1 Legal Research Center Home Law Firms Expert Witnesses Court Reporters ... Contact Us LEGAL DIRECTORIES Law Firms Expert Witnesses Investigators Process Servers ... Legal Services LAW PRACTICE 70 Areas of Practice Practice of Law Law Events Calendar Add your Event EMPLOYMENT CENTER Recruiters Employment Ads Other Resources STUDENTS CENTER Pre-Law Law Schools Graduate Schools Law Bar ... Other Resources BUSINESS CENTER Starting a Business Ecommerce Legal Structures Financing ... Employment CONSUMERS CENTER Consumer Resources National Regimes Publications Associations UNITED STATES LAW Federal Government States Law INTERNATIONAL LAW 230 Countries United Nations European Union Other Organizations ASSOCIATIONS Bar Associations Legal Associations Law Firms Attorneys Medical Experts: Waardenburg Syndrome National Medical Review, Inc. Little Rock, Arkansas Contact: Anita Nelson Tel: 501-223-3336, Fax: 501-223-3340 Medical Malpractice/Personal Injury Consultants National Medical Review, Inc. provides individuals, attorneys, and corporations with medical reviews, analysis, and expert witness. We specialize in Medical Malpractice, Physical Injury, Trauma, and Nursing Home Negligence. Team Work, Client Satisfaction, and Winning Your Case... It's What We Are All About! Extended Information Mailing Lists Add your Firm Contact Us H ieros G

65. Waardenburg Syndrome waardenburg syndromewaardenburg syndrome. Kleinwaardenburg syndrome. Piebaldism - waardenburg syndrome waardenburg syndrome waardenburg syndrome http://www.healthcentral.com/ency/408/001428.html

Dr. Dean TV Specials Newsletters Home ... Health Tools Search Choose a Health Topic * All Health Topics * Acne Addictions AIDS/HIV Alcohol Abuse Allergies Alternative Medicine Alzheimer's Arthritis Asthma Attention Deficit Disorder (ADHD) Backache Bipolar Affective Disorder Birth Control Blood Blood Pressure Bone/Joint/Tendon Bowel Brain Breast cancer Cancer Cerebral Palsy Cholesterol Cramps Crohn's Disease Cysts Dental/Oral Depression Diabetes Diet, Fitness, Looks Disabled/Special Needs Drug Abuse Ear/Nose/Throat Eating/Appetite Eczema Encephalitis Eye/Vision Fatigue Fever Flu Food Poisoning Foot Gallbladder Gastrointestinal Genetic/Congenital GERD/Heartburn Hair Loss Hair/Scalp Headache Hearing Heart Disease, Stroke Heat/Sunstroke Hepatitis Hernia Herpes High Blood Pressure Hormonal Immune Disorders Immunizations/Vaccines Impotence Incontinence/Bladder Infections Injuries Kidney/Urinary Kids Learning Disabilities Liver Lung Cancer Men Menopause, Postmenopause Migraine Mobility/Balance Multiple Sclerosis Muscle Neural Nosebleeds Pain Parasites Pituitary PMS Pregnancy Prostate Cancer Prostate Disorders Psoriasis Psychological Raynaud's Disease Respiratory Reye Syndrome Rheumatoid Arthritis Schizophrenia Seniors Sensory Sexually Transmitted Disease Skin Sleep Speech Disorders Spinal Thyroid Trauma Weight Loss Women Yeast Infections Home Health Encyclopedia Waardenburg syndrome Waardenburg syndrome Injury Disease Nutrition Poison ... Prevention Waardenburg syndrome Definition: Waardenburg syndrome is a group of hereditary conditions characterized by deafness and partial albinism (pale skin, hair and eye color).

66. Kprones WaardenburgID10089 Waardenburg s syndrome may be closely related to piebaldism. Kleinwaardenburg syndrome refers to a disorder that also includes upper limb abnormalities. http://www.infobiogen.fr/services/chromcancer/Kprones/WaardenburgID10089.html

Atlas of Genetics and Cytogenetics in Oncology and Haematology Home Genes Leukemias Solid Tumours ... NA Waardenburg syndrome (WS) Identity Note Waardenburg syndrome (WS) is an auditory-pigmentary syndrome caused by a deficiency of melanocytes and other neural crest-derived cells. The disease was named for Petrus Johannes Waardenburg, a Dutch ophthalmologist (1886-1979) who was the first to notice that people with two different coloured eyes frequently had hearing problems. Other names Klein-Waardenburg syndrome (WS3) Waardenburg syndrome with upper limb anomalies (WS3) White forelock with malformations (WS3) Waardenburg-Hirschsprung disease (WS4) Waardenburg syndrome variant (WS4) Shan-Waardenburg syndrome (WS4) Hirschsprung disease with pigmentary anomaly (WS4) Inheritance Inherited in an autosomal dominant manner with an incidence of 1 in 40 000 newborns. Almost 90% of patients have an affected parent but the symptoms in the parent can be quite different from those in the child. Clinics Note Waardenburg syndrome (WS) is a hereditary auditory-pigmentary syndrome, the major symptoms being congenital sensorineural hearing loss and pigmentary disturbance of eyes, hair and skin. Depending in additional symptoms, WS can be classified into four types: WS type I (WS1) is associated with facial deformity such as dystopia canthorum (lateral displacement of the inner canthi); WS2 has no other symptoms; WS3 is associated with upper limb deformity; and WS4, with megacolon. Phenotype and clinics Disease with variable penetrance and several know clinical types. Characteristics may include depigmentation of the hair and skin, congenital deafness, heterochromia iridis, medial eyebrow hyperplasia, hypertrophy of the nasal root, and especially dystopia canthorum. The underlying cause may be defective development of the neural crest (neurocristopathy). Waardenburg's syndrome may be closely related to

67. Waardenburg Syndrome With Anisocoria And Exotropia. Dastur YK, Dudhani A, Chital J Postgrad Med, Online version this peerreviewed periodical, a publication of the Staff Society of Seth GS Medical College and KEM Hospital, India, http://www.jpgmonline.com/article.asp?issn=0022-3859;year=1995;volume=41;issue=4

68. CMGS-Identification Of The Gene For Waardenburg Syndrome /11.2.99 Identification of the gene responsible for waardenburg syndrome (WS). (1990) demonstrated linkage of the waardenburg syndrome to the placental alkaline http://www.ich.ucl.ac.uk/cmgs/wardsyn.htm

MRCPath Self-help Course. Birmingham 1998-1999. 11 th February 1999. Identification of the gene responsible for Waardenburg Syndrome (WS). Phenotype. Wide bridge of the nose. Pigmentary disturbance (frontal white blaze or hair, white eye lashes). Cochlear deafness. WS type I (WS1) is distinguished from WS type II (WS2) by dystopia canthorum (abnormal position of the corner of the eye). Inheritance. Autosomal dominant. WS type III, very severe, due to homozygous form of WS1. Mapping Strategies. Positional cloning started to try and map the responsible gene to its correct subchromosomal location. Simpson et al. (1974) and Arias et al. (1975) suggested linkage to the ABO locus at 9q34. This was later excluded by Read et al. (1989) and da-Silva et al. (1990). Read et al. (1989) used polymorphic markers to study human chromosome 12, close to PEPB. PEPB is the human homolog of the mouse Pep-2 locus, mutation of which results in the 'Steel' mouse model of WS1. Read et al. (1989) excluded a large part of 12q as the site of the WS gene. Cytogenetic observations indicated which chromosomal areas to investigate.

69. Waardenburg Syndrome Type 2 Caused By Mutations In The Human Microphthalmia (MIT waardenburg syndrome type 2 (WS2) is a dominantly inherited syndrome of waardenburg syndrome patients have mutations in the human homologue of the Pax3 http://www.nature.com/doifinder/10.1038/ng1194-251

@import "/ng/style.css"; NATURE.COM NEWS@NATURE.COM NATUREJOBS NATUREEVENTS ... Help E-MAIL: PASSWORD: Save password Forgotten password? SEARCH JOURNAL Advanced search Journal home Archive Table of Contents ... For librarians NPG Resources Nature Nature Cell Biology Nature Medicine Nature Reviews Genetics ... Browse all publications Article Nature Genetics doi:10.1038/ng1194-251 Waardenburg syndrome type 2 caused by mutations in the human microphthalmia ( MITF ) gene Mayada Tassabehji , Valeria E. Newton Department of Medical Genetics, St. Mary's Hospital, Manchester M13 0JH, UK Centre for Audiology, University of Manchester, Manchester M13 9PL, UK Correspondence should be addressed to A.P.R. MITF , the human homologue of the mouse microphthalmia ( mi mi mutations show reduced pigmentation of the eyes and coat, and with some alleles, microphthalmia, hearing loss, osteopetrosis and mast cell defects. Here we show that affected individuals in two WS2 families have mutations affecting splice sites in the MITF gene. REFERENCES Waardenburg, P.J. A new syndrome combining developmental anomalies of the eyelids, eyebrows and nose root with pigmentary defects of the iris and head hair and with congenital deafness. Am. J. hum. Genet.

70. A Gene For Waardenburg Syndrome Type 2 Maps Close To The Human Homologue Of The waardenburg syndrome (WS), an autosomal dominant syndrome of hearing Locus heterogeneity for waardenburg syndrome is predictive of clinical subtypes. http://www.nature.com/doifinder/10.1038/ng0894-509

@import "/ng/style.css"; NATURE.COM NEWS@NATURE.COM NATUREJOBS NATUREEVENTS ... Help E-MAIL: PASSWORD: Save password Forgotten password? SEARCH JOURNAL Advanced search Journal home Archive Table of Contents ... For librarians NPG Resources Nature Nature Cell Biology Nature Medicine Nature Reviews Genetics ... Browse all publications Article Nature Genetics doi:10.1038/ng0894-509 A gene for Waardenburg Syndrome type 2 maps close to the human homologue of the microphthalmia Anne E. Hughes , Valerie E. Newton , Xue Z. Liu Department of Medical Genetics, Belfast City Hospital, Belfast BT9 7AB, UK Centre for Audiology, University of Manchester, Manchester M13 9PL, UK Department of Medical Genetics, St Mary's Hospital, Manchester M13 9PL, UK Correspondence should be addressed to A.E.H. Waardenburg syndrome (WS), an autosomal dominant syndrome of hearing loss and pigmentary disturbances, comprises at least two separate conditions. WS type 1 is normally caused by mutations in gave a maximum lod score of 6.5 at zero recombination in one large Type 2 family. In a second, smaller family the adjacent marker REFERENCES Arch. Otolaryngol.

71. Waardenburg Syndrome Type 2 In A Turkish Family: Implications For The Importance Tachibana M. A cascade of genes related to waardenburg syndrome. waardenburg syndrome type 2 caused by mutations in the human microphthalmia (MITF) gene http://bjo.bmjjournals.com/cgi/content/full/85/11/1384

HOME HELP FEEDBACK SUBSCRIPTIONS ... TABLE OF CONTENTS Author Keyword(s) Vol Page [Advanced] This Article Extract Full Text (PDF) Submit a response ... Alert me if a correction is posted 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 READ, A. P Related Collections Other ophthalmology Br J Ophthalmol 1384 ( November ) Letters to the editor Waardenburg syndrome type 2 in a Turkish family: implications for the importance of the pattern of fundus pigmentation E DITOR Waardenburg syndrome (WS) is a typical auditory pigmentary syndrome with affected individuals showing varying combinations of sensorineural hearing loss, patchy abnormal pigmentation of the eyes, hair and skin, and various defects of neural crest derived tissues.

72. Waardenburg Syndrome Article describes waardenburg syndrome, its symptoms, diagnosis, and treatment. http://rarediseases.about.com/cs/waardenburgsynd/a/030704.htm

var zLb=4; var zIoa1 = new Array('Suggested Reading','Internet links on Waardenburg syndrome','http://rarediseases.about.com/cs/waardenburgsynd','About.com Deafness: Waardenburg syndrome','http://deafness.about.com/cs/featurescauses/a/waardenburg.htm'); zJs=10 zJs=11 zJs=12 zJs=13 zc(5,'jsc',zJs,9999999,'') zfs=0;zCMt='a70' About Rare / Orphan Diseases Rare Diseases W - Z Rare Diseases: W Waardenburg Syndrome Rare Diseases Essentials Rare Diseases: Basic Information Rare Diseases Support Groups ... Help zau(256,140,140,'el','http://z.about.com/0/ip/417/C.htm','');w(xb+xb+' ');zau(256,140,140,'von','http://z.about.com/0/ip/496/7.htm','');w(xb+xb); FREE Newsletter Sign Up Now for the Rare / Orphan Diseases newsletter! See Online Courses Search Rare / Orphan Diseases Stay up to date! Compare Prices Email to a friend ... Print this page Suggested Reading Internet links on Waardenburg syndrome About.com Deafness: Waardenburg syndrome Most Popular Muscular Dystrophy ALD and Lorenzo's Oil Progeria Syndromes Leprosy (Hansen's Disease) ... The Elephant Man What's Hot Charcot-Marie-Tooth Disease Peyronie's Disease Twin-to-Twin Transfusion Synd Autoimmune Kidney Disease ... Cri-du-Chat Syndrome Related Topics Multiple Sclerosis Parenting Special Needs Sleep Disorders adunitCM(150,100,'x55')

73. Waardenburg Syndrome Links to articles, information, and resources for waardenburg syndrome. http://rarediseases.about.com/cs/waardenburgsynd/

zJs=10 zJs=11 zJs=12 zJs=13 zc(5,'jsc',zJs,9999999,'') zfs=0;zCMt='a70' About Rare / Orphan Diseases Rare Diseases Essentials ... Help zau(256,140,140,'el','http://z.about.com/0/ip/417/C.htm','');w(xb+xb+' ');zau(256,140,140,'von','http://z.about.com/0/ip/496/7.htm','');w(xb+xb); FREE Newsletter Sign Up Now for the Rare / Orphan Diseases newsletter! See Online Courses 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.). NCBI: Waardenburg Syndrome Information about the genetics of Waardenburg syndrome, from the National Center for Biotechnology Information (U.S.).

74. Waardenburg Syndrome Synonym for. van der Hoeve Halbertsona waardenburg syndrome. Synonym for. Waardenburg anophthalmia syndrome. Broader Terms. genetic disorder http://crisp.cit.nih.gov/Thesaurus/00008571.htm

Prev Term: Waardenburg anophthalmia syndrome Next Term: Waardenburg syndrome Used for: Klein syndrome Used for: Klein Waardenburg syndrome Synonym for: van der Hoeve Halbertsona Waardenburg syndrome Synonym for: Waardenburg anophthalmia syndrome Broader Terms: genetic disorder Broader Terms: syndrome Related Terms: autosomal dominant trait Scope Note: rare, autosomal dominant disease with variable penetrance and several known clinical subtypes; characteristics may include depigmentation of the hair and skin, congenital deafness, heterochromia iridis, medial eyebrow hyperplasia, hypertrophy of the nasal root, and especially dystopia canthorum; the underlying cause may be defective development of the neural crest (neurocristopathy); may be closely related to piebaldism; Klein-Waardenburg Syndrome refers to a disorder that also includes upper limb abnormalities. Term Number: Send your comments to: Melody Lowe

75. JAX®Mice Database - Mouse/Human Gene Homologs: Waardenburg Syndrome, Type I JAX®MICE Database Mouse/Human Gene Homologs waardenburg syndrome, type I List. http://jaxmice.jax.org/jaxmicedb/html/model_1046.shtml

Strain Information Services Information JAX Mice Literature Order Mice ... E-Mail Alerts Search Criteria: Area is "Mouse/Human Gene Homologs: Waardenburg syndrome, type I" Strains Newly Available for all Mouse/Human Gene Homologs models. Stock Number Strain Name (link to Data Sheet) Strain Type Standard Supply Sp .Cg- N /J Repository-Cryopreserved. Please refer to the Supply Notes for further information. Sp-d /J Repository-Live. No age specifications accepted. Colony sized to produce minimal quantities (typically up to 6 mice) upon order receipt; one order per strain. Expected delivery: 1-3 months. Larger quantities or custom orders arranged upon request. Sp /J Repository-Live. No age specifications accepted. Colony sized to produce minimal quantities (typically up to 6 mice) upon order receipt; one order per strain. Expected delivery: 1-3 months. Larger quantities or custom orders arranged upon request. STOCK Sp Mlph ln ... /J Repository-Cryopreserved. Please refer to the Supply Notes for further information. (4 stocks) Back to top Back to Top Research Research Resources ... The Jackson Laboratory

76. JAX®Mice Database - Mouse/Human Gene Homologs: Waardenburg Syndrome, Type IIA JAX®MICE Database Mouse/Human Gene Homologs waardenburg syndrome, type IIA List. http://jaxmice.jax.org/jaxmicedb/html/model_1047.shtml

Strain Information Services Information JAX Mice Literature Order Mice ... E-Mail Alerts Search Criteria: Area is "Mouse/Human Gene Homologs: Waardenburg syndrome, type IIA" Strains Newly Available for all Mouse/Human Gene Homologs models. Stock Number Strain Name (link to Data Sheet) Strain Type Standard Supply B6(FVB)- Mitf Mee /J Repository-Live. No age specifications accepted. Colony sized to produce minimal quantities (typically up to 6 mice) upon order receipt; one order per strain. Expected delivery: 1-3 months. Larger quantities or custom orders arranged upon request. B6.Cg- Mitf Mi-wh /J Repository-Cryopreserved. Please refer to the Supply Notes for further information. B6.Cg- Mitf Mi-wh Mitf ... /J Repository-Cryopreserved. Please refer to the Supply Notes for further information. B6.Cg- Mitf Mi-wh Mitf ... /J Repository-Cryopreserved. Please refer to the Supply Notes for further information. B6.Cg- Mitf Mi-wh Mitf ... /J Repository-Cryopreserved. Please refer to the Supply Notes for further information. B6By.Cg- Kit W-v Mitf ... /J Repository-Cryopreserved. Please refer to the Supply Notes for further information.

77. Waardenburg Syndrome waardenburg syndrome is a group of hereditary conditions characterized by deafness and waardenburg syndrome is inherited as an autosomal dominant trait; http://www.shands.org/health/information/article/001428.htm

Disease Injury Nutrition Poison ... Sense of hearing Waardenburg syndrome Definition: Waardenburg syndrome is a group of hereditary conditions characterized by deafness and partial albinism (pale skin, hair and eye color). Causes, incidence, and risk factors: Waardenburg syndrome is inherited as an autosomal dominant trait; only one parent has to pass on the gene for a child to be affected. There are four types of this syndrome. (Type 3 is known as Klein-Waardenburg syndrome; Type 4 is Waardenburg-Shah syndrome.) The multiple types of this syndrome result from mutations occurring in different genes. All types share two dominant features: hearing loss and partial albinism. The albinism is incomplete and may appear as a white forelock in an otherwise dark head of hair, very pale light-blue eyes, or two different colored eyes . Affected individuals may also have wide separation of the inner corners of the eyes, a broad nasal bridge, and other color changes of the skin. Waardenburg syndrome affects about 1 in every 30,000 people. Almost 90% of patients have an affected parent but the symptoms in the parent can be quite different from those in the child. Symptoms: family history of parent with Waardenburg syndrome extremely pale blue eyes or eye colors don't match ( heterochromia white forelock of hair or early graying of the hair deafness (variable degree) possible slight decrease in intellectual functioning occasional cleft lip constipation may occur may have difficulty with completely straightening joints (contracture)

78. Waardenburg Syndrome - Hearing Aids 101 A hearing aid guide illustrating valuable information regarding a form of sensory hearing loss called the waardenburg syndrome. Causes of this syndrome as http://www.hearingaids101.com/waardenburg-syndrome.aspx

Waardenburg Syndrome Waardenburg syndrome is a common form of sensory hearing loss that also affects your appearance. The level of hearing loss associated with the condition varies from moderate to profound. Waardenburg syndrome is an inherited condition; which may result in various degrees of hearing loss and changes in the color of your hair and skin. Waardenburg syndrome is passed down genetically from parents to children the same way hair color, blood type, and other physical characteristics are. Since the syndrome is a dominant condition, children generally inherit the condition from just one parent who has the malfunctioning syndrome gene. Children of people with Waardenburg syndrome have about a 50-percent chance of inheriting the condition. Waardenburg syndrome was named by a Dutch eye doctor named Waardenburg after he noticed that people who have two different colored eyes often had some type of hearing impairment. His studies found that many people with hearing loss had physical characteristics in common. One characteristic of the syndrome is two differently colored eyes. One eye is usually blue and the other eye is usually brown. Occasionally, one eye can have two different colors itself. Some people with Waardenburg syndrome may also have uncommonly brilliant blue eyes. Many people who have the syndrome may also have a distinctive color of hair. This could include gray hair or a patch of white hair by the time they are 12-years-old. Other physical characteristics could include a wide gap between the inner corners of their eyes which is called a broad nasal root. People who have Waardenburg syndrome may also have a low frontal hairline and their eyebrows may connect with each other. People with the syndrome may have one or more of these symptoms, but not everybody who has Waardenburg suffers from hearing loss.

79. Waardenburg Syndrome waardenburg syndrome (Mende Syndrome, PtosisEpicanthus Syndrome, Type IV (waardenburg syndrome with Hirschsprung Disease; waardenburg syndrome, http://www.bdid.com/waardenburg.htm

HOME Waardenburg Syndrome (Mende Syndrome, Ptosis-Epicanthus Syndrome, Van der Hoeve Halbertsma Waardenburg Gualdi Syndrome) Waardenburg Syndrome Waardenburg Syndromes Waardenberg syndrome Waardenberg syndrome ... Support Group Pierpont Type Waardenburg type pierpont Type I Waardenburg syndrome type 1 Waardenburg Syndrome WAARDENBURG SYNDROME, TYPE I; WS1 Type II Waardenburg Syndrome Waardenburg syndrome type 2 Type IIa Waardenburg syndrome type 2a WAARDENBURG SYNDROME, TYPE IIA; WS2A Type IIb Waardenburg syndrome type 2b WAARDENBURG SYNDROME, TYPE IIB; WS2B with Ocular Albinism Autosomal Recessive See Albinism, Ocular, with Sensorineural Deafness Type III (Anophthalmia-Hand-Foot Defects-Mental Retardation Syndrome, Crooked Fingers Syndrome, Klein-Waaardenburg Syndrome, Ophthalmo Acromelic Syndrome, Syndactyly-Anophthalmos Syndrome, Waardenburg-(Recessive) Anophthalmia Syndrome) Klein-Waardenburg syndrome Anophthalmia waardenburg syndrome WAARDENBURG SYNDROMES ophthalmo-acromelic syndrome ... ANOPHTHALMOS WITH LIMB ANOMALIES Type IV (Waardenburg Syndrome with Hirschsprung Disease; Waardenburg Syndrome, Variant; Hirschsprung Disease with Pigmentary Anomaly; Waardenburg-Shah Syndrome) Waardenburg Syndrome Waardenburg syndrome, type 4

80. Birth Disorder Information Directory - W waardenburg syndrome. List of Sites; (Recessive) Anophthalmia Syndrome See waardenburg syndrome, Type IV. with Hirschsprung Disease http://www.bdid.com/defectw.htm

HOME W W Syndrome See (Pallister) W Syndrome Waaler Aarskog Syndrome (Hydrocephalus with Costovertebral Dysplasia and Sprengel Anomaly) Waaler aarskog syndrome BASAL CELL NEVUS SYNDROME; BCNS Waardenburg Syndrome List of Sites -(Recessive) Anophthalmia Syndrome See Waardenburg Syndrome, Type III -Shah Syndrome See Waardenburg Syndrome, Type IV with Hirschsprung Disease See Waardenburg Syndrome, Type IV Wagner Syndrome (Erosive Vitreoretinopathy, Hyaloideoretinal Degeneration of Wagner, Wagner Vitreoretinal Degeneration) HYALOIDEORETINAL DEGENERATION OF WAGNER Wagner disease Wagner-Stickler Syndrome Kniest Syndrome Group WAGR Syndrome See Wilms Tumor-Aniridia-Genitourinary Anomalies-Mental Retardation (WAGR) Syndrome Walbaum Titran Durieux Crepin Syndrome (Fibular Hypoplasia with Scapulo Pelvic Dysplasia and Absent 5th Fingers) Walbaum titran durieux crepin syndrome Walker Dyson Syndrome (Aniridia-Mental Retardation Syndrome) Aniridia mental retardation syndrome Walker Warburg Syndrome (Cerebroocular Dysgenesis; Cerebroocular Dysplasia-Muscular Dystrophy Syndrome; Chemke Syndrome; COD-MD Syndrome; Hard +/- E Syndrome; H ydrocephalus

A  B  C  D  E  F  G  H  I  J  K  L  M  N  O  P  Q  R  S  T  U  V  W  X  Y  Z

Page 4     61-80 of 102    Back | 1  | 2  | 3  | 4  | 5  | 6  | Next 20