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         Waardenburg Syndrome:     more detail
  1. Waardenburg Syndrome (Gentics and Communication Disorders Series) by Alice Kahn, 2006-07-25
  2. Light-eyed Negroes and the Klein-Waardenburg Syndrome by Jenni Soussi-Tsafrir, 1974-03
  3. The Official Patient's Sourcebook on Waardenburg Syndrome: A Revised and Updated Directory for the Internet Age by ICON Health Publications, 2006-12-05
  4. Waardenburg Syndrome - A Bibliography and Dictionary for Physicians, Patients, and Genome Researchers by Philip M. Parker, 2007-07-19
  5. Waardenburg syndrome: An entry from Thomson Gale's <i>Gale Encyclopedia of Genetic Disorders, 2nd ed.</i> by Scott, MS Polzin, 2005
  6. Waardenburg Syndrome by AliceKahn, 2006-01-01
  7. Vestibular function and additional findings in Waardenburg's syndrome (Acta Oto-Laryngologica/Supplementum) by Richard E Marcus, 1968
  8. Hereditary deafness in the cat: Free amino acid and sugar content in the perilymph by Hans H Elverland, 1977

1. PAX3
An article about waardenburg syndrome and its features, statistics and the gene pax3.Category Health Conditions and Diseases waardenburg syndrome......

2. NIDCD - Page Has Been Moved
waardenburg syndrome (WS) is an inherited disorder often characterized by varying degrees of hearing loss and changes in
We've updated the NIDCD site.The page you have requested has been moved. Please update your bookmarks or links to the new URL, which is: You will be redirected to that page in 10 seconds. National Institute on Deafness and Other Communication Disorders
National Institutes of Health
31 Center Drive, MSC 2320
Bethesda, MD USA 20892-2320

3. Waardenberg Syndrome
waardenburg syndrome like any disease comes about as a malfunction of one or more of your bodies systems.
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Genome View
on chromosome 2

the literature

collection of gene-related information

catalog of human genes and disorders Information Search the National Institute for Deafness and other Communication Disorders, NIH The Boys Town Research Registry for Hereditary Hearing Loss fostering links between families, clinicians and researchers THE MAIN CHARACTERISTICS

4. Waardenburg Syndrome - Parents - Boys Town National Research Hospital
The waardenburg syndrome (WS) gene affects the body in three primary ways hearing , pigmentation (coloring) of the skin,
Genetics and Deafness - Waardenburg Syndrome A Dutch eye doctor, P. J. Waardenburg, was the first to notice that some people with two different colored eyes frequently had hearing problems. Dr. Waardenburg went on to study other chraacteristics of the syndrome which is now named after him. The Waardenburg syndrome (WS) gene affects the body in three primary ways: hearing , pigmentation (coloring) of the skin, hair and eyes, and facial structure. Hearing. There is a great deal of variation in the sensorineural hearing loss among people with WS. At least half of those with the gene have no hearing problems. Only about one out of five have a hearing loss severe enough to require some aid to verbal communication. Some with the gene are totally deaf, and others are deaf in one ear, yet have completely normal hearing in the other ear. Pigmentation - Facial Structure

5. Waardenburg Syndrome
waardenburg syndrome Genetic Information and Resources waardenburg syndrome. waardenburg syndrome, Research Registry for Hereditary Hearing Loss, Boys Town, deafgene.registry
Waardenburg Syndrome
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To locate a genetic counselor or clinical geneticist in your area: Revised May 9, 2001
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6. NORD - Waardenburg Syndrome
A general discussion about this disorder, followed by further resources.

7. NIDCD Health Information: Waardeburg Syndrome
waardenburg syndrome. One commonly observed characteristic of waardenburg syndromeis two differently colored eyes. One eye is usually brown and the other blue.

Health Information Hearing, Ear Infections, and Deafness
Waardenburg Syndrome
On this page:
Waardenburg syndrome (WS) is an inherited disorder often characterized by varying degrees of hearing loss and changes in skin and hair pigmentation. The syndrome got its name from a Dutch eye doctor named Petrus Johannes Waardenburg who first noticed that people with differently colored eyes often had a hearing impairment. He went on to study over a thousand individuals in deaf families and found that some of them had certain physical characteristics in common. One commonly observed characteristic of Waardenburg syndrome is two differently colored eyes. One eye is usually brown and the other blue. Sometimes, one eye has two different colors. Other individuals with Waardenburg syndrome may have unusually brilliant blue eyes. People with WS may also have distinctive hair coloring, such as a patch of white hair or premature gray hair as early as age 12. Other possible physical features include a wide space between the inner corners of eyes called a broad nasal root. In addition persons with WS may have low frontal hairline and their eyebrows may connect. The levels of hearing loss associated with the syndrome can vary from moderate to profound. Individuals with Waardenburg syndrome may have some or all of the traits of the syndrome. For example, a person with WS may have a white forelock, a patch of white hair near the forehead and no hearing impairment. Others may have white patches of skin and severe hearing impairment. The severity of the hearing impairment varies among individuals with WS as do changes in the skin and hair.

8. Pediatric Database
A definition of waardenburg syndrome followed by the epidemiology, pathogenesis, clinical features, investigations and management.
  • Pediatric Database (PEDBASE)
  • Discipline: GEN
  • Last Updated: 12/08/93
    A disorder of unknown etiology characterized by pigmentation changes, deafness, and midface anomalies.
    • incidence: 1-2/20,000
    • age of onset:
      • newborn (dysmorphic features)
    • risk factors:
      • familial - autosomal dominant (all 3 types with 85% penetrance in Type 1)
        • chrom.#: 2q35 (Type 1)
        • gene: paired box homeotic gene-3
      • M = F
      • older paternal age in de novo mutations
      1. Background
      • etiology unknown
      • first described in 1951 by Waardenburg in a group of congenitally deaf children
      2. Genetic Defect
    • 1. Pigmentary Changes
      1. Ocular
      • heterochromia irides
        • total or partial (may be restricted to a single segment of one eye)
      • isochromia
        • pale or bright blue irides with hypoplasic iridic stroma
      • albinotic fundi
        • mottled peripheral pigmentation of retina
        2. Hair/Cutaneous
        1. Hair
        • poliosis (white forelock) may be present at birth, disappear then reappear
        • may have other patches of white hair
        • premature greying of hair, eyelashes, and eyebrows (as early as 7 years of age)
        2. Cutaneous
  • 9. HONselect - Waardenburg's Syndrome
    Translate this page English Waardenburg's Syndrome, - Klein-waardenburg syndrome - Klein's Syndrome- Waardenburg-Klein Syndrome - Klein Syndrome - Klein waardenburg syndrome
    List of rare diseases: English Deutsch
    MeSH term:
    Accepted terms:
    English: Waardenburg's Syndrome - Klein-Waardenburg Syndrome
    - Klein's Syndrome
    - Waardenburg-Klein Syndrome
    - Klein Syndrome
    - Klein Waardenburg Syndrome
    - Kleins Syndrome
    Français: WAARDENBURG, SYNDROME Deutsch: Waardenburg-Syndrom - Klein-Waardenburg-Syndrom Español: SINDROME DE WAARDENBURG - SINDROME DE KLEIN WAARDENBURG Português: SINDROME DE WAARDENBURG - SINDROME DE KLEIN WAARDENBURG HONselect ressources Definition: Yes Articles: Yes Images: Yes News: No Conferences: No Clinical trials: No Web sites: English Yes Français No Deutsch No Español No Português No Home About us Site map Feedback ... HONewsletter Last modified: Thu Jul 25 2002

    10. Waardenburg Syndrome
    HOME waardenburg syndrome (Mende Syndrome, PtosisEpicanthus Syndrome, Van derHoeve Halbertsma Waardenburg Gualdi Syndrome). Type II waardenburg syndrome;

    Waardenburg Syndrome (Mende Syndrome, Ptosis-Epicanthus Syndrome, Van der Hoeve Halbertsma Waardenburg Gualdi Syndrome)

    11. Birth Disorder Information Directory - W
    waardenburg syndrome List of Sites; (Recessive) Anophthalmia SyndromeSee waardenburg syndrome, Type III. -Shah Syndrome See Waardenburg

    W Syndrome Waaler Aarskog Syndrome (Hydrocephalus with Costovertebral Dysplasia and Sprengel Anomaly) Waardenburg Syndrome

    12. Klein-Waardenburg Syndrome (
    Kleinwaardenburg syndrome A hereditary congenital defect involving pigmentation,lateral displacement of the medial canthi and lacrimal points, and deafness.


    List categories

    Eponyms A-Z

    Biographies by country

    Klein-Waardenburg syndrome Also known as:
    Klein’s syndrome
    Mende's syndrome II
    van der Hoeve-Halbertsma-Waardenburg syndrome
    Van der Hoeve-Halbertsma-Gualdi syndrome van der Hoeve-Waardenburg-Klein syndrome Vogt’s syndrome (Cécile Vogt) Waardenburg's syndrome II Synonyms: Blepharophimosis, dyschromia iridocutanea et dysplasia auditiva (Waardenburg), dyschromia tridocutanea et dysplasia auditiva, dystopia canthi medialis lateroversa, embryonic fixation syndrome, hyperplasia interocularis cum dystopia lateroversa canthi medialis, interoculiiridodermatoauditory dysplasia syndrome, ptosis-epicanthus syndrome. Associated persons: Unknown Gualdi Nicolaas Adolf Halbertsma David Klein Irmgard Mende ... Petrus Johannes Waardenburg Description: A hereditary congenital defect involving pigmentation. It consists of a white forelock, vitiligo, partial or total heterochromic irides, hyperplastic broad high nasal root, lateral displacement of the medial canthi and lacrimal points, hyperplasia of the median portion of the eyebrows, congenital or partial (unilateral) deafness (15-20 % of affected persons). Although the most serious defect in this syndrome is congenital deafness, it is seldom accepted and mentioned by patients. A conspicuous feature is two different coloured eyes. No sex preference; reported in all ethnic groups. Transmitted as an autosomal dominant trait with complete penetrance and variable expressivity. Both sexes transmit these characteristics; in particular, there is father-to-son transmission.

    13. Shah-Waardenburg Syndrome (
    Shahwaardenburg syndrome A neurocristopathy characterised by the association ofHirschprung's disease and Waardenburg's syndrome. Shah-waardenburg syndrome


    List categories

    Eponyms A-Z

    Biographies by country

    Shah-Waardenburg syndrome Also known as:
    Hirschsprung disease-pigmentary anomaly syndrome
    Hirschsprung's disease with pigmentary anomaly
    Waardenburg-Hirschprung disease
    Waardenburg's syndrome variant Waardenburg-Hirschprung syndrome Associated persons: Harald Hirschsprung Krishnakumar N. Shah Petrus Johannes Waardenburg Description: A neurocristopathy characterised by the association of Hirschprung's disease and Waardenburg's syndrome. In this syndrome the Waardenburg syndrome is associated with white forelock, white eyebrows and eyelashes, iridochromia iridis, and intestinal obstruction caused by a long-segment Hirschprung disease. The syndrome is transmitted as an autosomal recessive trait. Bibliography:
    • K. N. Shah, et al: White forelock, pigmentary disorder of irides, and long segment Hirschprung disease: Possible variant of Waardenburg syndrome. Journal of Pediatrics, St. Louis, 1981, 99: 432-435.
    • P. Edery, T. Attié, J. Amiel, A. Pelet, C. Eng, R.M.W. Hofstra, H. Martelli, C. Bidaud, A. Munnich, and S. Lyonnet: Mutation of the endothelin-3 gene in the Waardenburg-Hirschsprung disease (Shah-Waardenburg syndrome).

    14. HealthlinkUSA Waardenburg Syndrome Links
    Try it, you'll love it! AhHa. Click here for page 1 of waardenburg syndromeinformation from the HealthlinkUSA directory. Save on Drugs Here.

    15. Waardenburg Syndrome; Treatment, Prevention, Cure
    waardenburg syndromeSearch information from many of the best waardenburg syndromehealth sites. Related Searches. waardenburg syndrome message board/forum.
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    16. Waardenburg Syndrome
    Back Home Next. waardenburg syndrome. NORD waardenburg syndrome.waardenburg syndrome. waardenburg syndromes. Syndromic Hearing Loss.
    "see the ability, not the disability" You to can help support the Ability Project by: Our Aims ... Z Waardenburg Syndrome NORD - Waardenburg Syndrome Waardenburg Syndrome Waardenburg Syndromes Syndromic Hearing Loss ... Webmaster . Site Design by Ability "see the ability, not the disability" Acknowledgments

    17. The Contact A Family Directory - WAARDENBURG SYNDROME
    printer friendly, waardenburg syndrome, waardenburg syndrome (WS) is aninherited condition which may be associated with a range of features.
    printer friendly WAARDENBURG SYNDROME home more about us in your area conditions information ... how you can help search this site Waardenburg syndrome (WS) is an inherited condition which may be associated with a range of features. The main characteristics of WS include hearing impairment (see Deafness Gut Motility Disorders ) or features including upper limb abnormalities and cleft lip and/or palate . Individuals with WS have a normal lifespan. Researchers have described four main types of WS. A diagnosis of the particular type of WS depends upon detecting the fault in the causative gene. The different types of WS vary in the physical characteristics present. The most common types of WS are Type 1 and Type 2, which are distinguished on the basis of widely spaced eyes. This feature is present in Type 1 and absent in Type 2. However, hearing impairments are more common in Type 2. Type 3 (Klein-Waardenburg syndrome) is rare and is associated with upper limb abnormalities. Type 4 (Waardenburg-Hirschsprung disease), which is also uncommon, is associated with associated with colon problems originating from the time of birth. Inheritance patterns
    A number of genes have been associated with WS and different genes are associated with the different types of WS. In most cases, WS is inherited as an autosomal dominant trait. The genetics of Waardenburg-Hirschsprung disease is slightly different as this type of WS is inherited as an autosomal recessive trait.

    18. Waardenburg Syndrome
    waardenburg syndrome. waardenburg syndrome is an autosomal dominant hereditarycondition. It is characterized mainly by lateral (outward

    Help for sleepless parents
    Encyclopedia Index W Waardenburg syndrome Search
    Waardenburg syndrome
    Waardenburg syndrome is an autosomal dominant hereditary condition. It is characterized mainly by
    • lateral (outward) displacement of the inner corners of the eyes
    • pigmentary disturbances
      • white forelock in the hair
      • congenital heterochromia of the pupils
      • patches of lighter pigmentation of the skin
    • defective hearing
    The linkage of the white forelock with hearing defects means that this feature should logically prompt a hearing evaluation for any baby born with such a forelock.

    19. Health Library - Waardenburg Syndrome
    prevention. waardenburg syndrome. Synonyms time. waardenburg syndrome isa genetic disorder that may be evident at birth (congenital). The

    20. CMGS-Identification Of The Gene For Waardenburg Syndrome /11.2.99
    Identification of the gene responsible for waardenburg syndrome (WS). Phenotype. ReadAP, Foy C, Newton V Exclusion mapping in waardenburg syndrome.
    MRCPath Self-help Course. Birmingham 1998-1999. 11 th February 1999.
    Identification of the gene responsible for Waardenburg Syndrome (WS).
  • 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).
  • 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.
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