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Topic: Waardenburg syndrome

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	Waardenburg syndrome -- Facts, Info, and Encyclopedia article (Site not responding. Last check: 2007-10-09)
		Waardenburg syndrome is a (A disease or disorder that is inherited genetically) genetic disorder associated with (Partial or complete loss of hearing) hearing loss and changes in (A natural protective covering of the body; site of the sense of touch) skin and (additional info and facts about hair pigmentation) hair pigmentation.
		Type IV: Waardenberg-Hirschsprung disease, or Waardenburg-Shah syndrome, is associated with mutations in the endothelin-B receptor gene (EDNRB), the gene for its (An atom or molecule or radical or ion that forms a complex around a central atom) ligand, endothelin-3 (EDN3), or in the SRY-related HMG-box gene 10 (SOX10) gene.
		Some cases of type II and type IV Waardenburg syndrome appear to have an (additional info and facts about autosomal recessive) autosomal recessive pattern of inheritance, which means two copies of the gene must be altered for a person to be affected by the disorder.
	www.absoluteastronomy.com /encyclopedia/w/wa/waardenburg_syndrome.htm (428 words)

	Waardenburg syndrome - Wikipedia, the free encyclopedia
		Waardenburg syndrome is a genetic disorder associated with hearing loss and changes in skin and hair pigmentation.
		Type IV: Waardenberg-Hirschsprung disease, or Waardenburg-Shah syndrome, is associated with mutations in the endothelin-B receptor gene (EDNRB), the gene for its ligand, endothelin-3 (EDN3), or in the SRY-related HMG-box gene 10 (SOX10) gene.
		Some cases of type II and type IV Waardenburg syndrome appear to have an autosomal recessive pattern of inheritance, which means two copies of the gene must be altered for a person to be affected by the disorder.
	en.wikipedia.org /wiki/Waardenburg_syndrome (352 words)

	Waardenburg Syndrome
		Waardenburg syndrome (WS) is an inherited disorder often characterized by varying degrees of hearing loss and changes in skin and hair pigmentation.
		Individuals with Waardenburg syndrome may have some or all of the traits of the syndrome.
		Because Waardenburg syndrome is a dominant condition, a child usually inherits the syndrome from just one parent who has the malfunctioning WS gene.
	www.drlera.com /waardenburg_syndrome.htm (677 words)

	Waardenburg syndrome - Genetics Home Reference
		Waardenburg syndrome is a group of genetic conditions characterized by hearing loss and changes in coloring (pigmentation) of the hair, skin, and eyes.
		Mutations in the EDN3, EDNRB, MITF, PAX3, SNAI2, and SOX10 genes cause Waardenburg syndrome.
		Types I and III Waardenburg syndrome are caused by mutations in the PAX3 gene.
	ghr.nlm.nih.gov /condition=waardenburgsyndrome (914 words)

	Information about Waardenburg Syndrome
		Waardenburg syndrome is an genetic disorder characterized by varying degrees of hearing loss and changes in skin and hair pigmentation.
		Waardenburg syndrome is named after a Dutch eye doctor named Petrus Johannes Waardenburg who first noticed that people with differently colored eyes often had a hearing impairment.
		Waardenburg Syndrome is caused by a faulty gene.
	www.mamashealth.com /ear/waar.asp (311 words)

	eMedicine - Waardenburg Syndrome : Article by Lyubomir A Dourmishev, MD, PhD (Site not responding. Last check: 2007-10-09)
		Background: Waardenburg syndrome is a rare disease characterized by deafness in association with pigmentary anomalies and defects of neural crest-derived tissues.
		Waardenburg syndrome type IV is autosomal recessive with variable penetrance and is due to different SOX10 mutations, which appear to correlate with the intestinal and/or neurological symptoms manifested in patients.
		Woolf syndrome (the association of albinismus circumscriptus and deafmutism without other features of Waardenburg syndrome): This entity consists of separated genetic defects with autosomal dominant inheritance; however, the distinguishing structural ophthalmologic abnormalities of dystopia canthorum, broad nasal root, and synophrys are not found in either piebaldism or Woolf syndrome.
	www.emedicine.com /derm/topic690.htm (2311 words)

	Petrus Johannes Waardenburg (www.whonamedit.com)
		A hereditary syndrome characterized by anophthalmia and limb abnormalities, mainly syndactyly.
		In 1932 he suggested that Down's syndrome might be the consequence of a chromosomal aberration, a fact that was not confirmed until 27 years later, by Jérôme Jean Louis Marie Lejeune (1926-) and his colleagues.
		Waardenburg was almost 50 years of age before he was habilitated as a lecturer in human genetics, and it was not until 1952 that he was finally appointed professor of genetics at the Institute of Preventative Medicine, Leiden.
	www.whonamedit.com /doctor.cfm/1012.html (701 words)

	eMedicine - Waardenburg Syndrome : Article by Lynn Bason, MS (Site not responding. Last check: 2007-10-09)
		Background: Waardenburg syndrome (WS) is named after the Dutch ophthalmologist who, in 1947, first described a patient with hearing loss, dystopia canthorum (ie, lateral displacement of the inner canthi of the eyes), and retinal pigmentary differences.
		Tietz syndrome (ie, albinism and deafness [OMIM #103500])
		Waardenburg PJ: 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.
	www.emedicine.com /ped/topic2422.htm (2167 words)

	Ferret Friendly Facts and Advice by Erika Matulich
		Deafness in ferrets is usually a genetic defect caused by Waardenburg syndrome, which results in the underdevelopment of the hearing mechanism of the inner ear.
		In ferrets with Waardenburg syndrome, deafness is genetically linked with white markings on the face.
		Waardenburg syndrome shows up in humans as well as in ferrets, dogs, cats, mice, and other animals.
	www.cypresskeep.com /Ferretfiles/Deaf.htm (883 words)

	Waardenburg Syndrome : RPResearch
		Waardenburg Syndrome - Waardenburg syndrome is a rare disease characterized by deafness in association with pigmentary anomalies and defects of neural crest...
		Waardenburg Syndrome - Waardenburg syndrome (WS) is named after the Dutch ophthalmologist who, in 1947, first described a patient with hearing loss, dystopia...
		Waardenburg syndrome is inherited as an autosomal dominant trait; only one parent has to pass on the gene...
	www.rpresearch.ca /?Top=Waardenburg%20Syndrome (289 words)

	Waardenburg Syndrome
		It is possible that the main title of the report Waardenburg Syndrome is not the name you expected.
		Waardenburg syndrome is a genetic disorder that may be evident at birth (congenital).
		For example, Waardenburg syndrome type I (WS1) is characteristically associated with sideways displacement of the inner angles of the eyes (i.e., dystopia canthorum), yet type II (WS2) is not associated with this feature.
	www.webmd.com /hw/raising_a_family/nord430.asp (674 words)

	Waardenburg syndrome definition - Medical Dictionary definitions of popular medical terms
		Waardenburg syndrome: A genetic disorder that causes deafness, white forelock (a frontal white blaze of hair), a difference of color between the iris of one eye and the other (heterochromia iridis), white eye lashes, and wide-set inner corners of the eyes.
		WS is inherited in an autosomal dominant manner in which the heterozygous state (with one copy of the gene) is sufficient to cause the syndrome.
		The syndrome is named for a Dutch eye doctor named Petrus Johannes Waardenburg (1886-1979) who first noticed that people with differently colored eyes often had a hearing impairment.
	www.medterms.com /script/main/art.asp?articlekey=13431 (371 words)

	MedlinePlus Medical Encyclopedia: Waardenburg syndrome
		Waardenburg syndrome is inherited as an autosomal dominant trait, meaning only 1 parent has to pass on the gene for a child to be affected.
		Genetic counseling may be helpful if you have family history of Waardenburg syndrome and plan to have children.
		Genetic counseling may be valuable for prospective parents with a family history of Waardenburg syndrome.
	www.nlm.nih.gov /medlineplus/ency/article/001428.htm (572 words)

	Waardenburg syndrome
		The main characteristics of Waardenburg syndrome (WS) include: a wide bridge of the nose; pigmentary disturbances such as two different colored eyes, white forelock and eyelashes and premature graying of the hair; and some degree of cochlear deafness.
		The disease was named for Petrus Johannes Waardenburg, a Dutch ophthalmologist (1886-1979) who was the first to notice that people with two different colored eyes frequently had hearing problems.
		Pax3 is one of a family of eight mouse Pax genes that are involved in regulating embryonic development at the level of transcription.
	www.ncbi.nlm.nih.gov /books/bv.fcgi?call=bv.View..ShowSection&rid=gnd.section.187 (232 words)

	megan and cho's syndrome of the week - week 17 (Site not responding. Last check: 2007-10-09)
		What is the phrase used to describe the hypopigmented portion of hair (as depicted in picture) that is a prominent feature of this week’s syndrome?
		People with this syndrome have varying manifestations of partial albinism.
		What is the most important screening test to perform in patients with this syndrome?
	info.med.yale.edu /pediat/pedres/syndrome/week17.html (69 words)

	Waardenburg's Syndrome - Klein-Waardenburg Syndrome - information page with HONselect
		The underlying cause may be defective development of the neural crest (neurocristopathy).
		Waardenburg's syndrome may be closely related to piebaldism.
		Klein-Waardenburg Syndrome refers to a disorder that also includes upper limb abnormalities.
	www.hon.ch /HONselect/RareDiseases/EN/C16.131.077.938.html (243 words)

	Gina Lynn's Waardenburg Syndrome Home Page
		My name is Gina Lynn, and I was diagnosed with Waardenburg's Syndrome (WS) in November of 2000.
		A forum for people to talk to other people who have Waardenburg's or have family members with Waardenburg's.
		The purpose of my web page is for fellow Waardenburg and ELH sufferers to share information and give emotional support via e-mail and/or Message Boards.
	www.webspawner.com /users/waardenbergsyndrome (427 words)

	Waardenburg's syndrome III (www.whonamedit.com)
		Hypography is an open community about science and all things related
		A hereditary syndrome, transmitted as an autosomal recessive trait, characterized by anophthalmia and limb abnormalities, mainly syndactyly.
		In: P. Waardenburg, A. Franceschetti, D. Klein (editors): Genetics in ophthalmology.
	www.whonamedit.com /synd.cfm/1088.html (105 words)

	Resource Library: Find information on Waardenburg syndrome at MerckSource (Site not responding. Last check: 2007-10-09)
		Resource Library: Find information on Waardenburg syndrome at MerckSource
		The manufacture of a product generally has the most complete information about that product.
		Reviewed By: Douglas R. Stewart, M.D., Division of Medical Genetics, Hospital of the University of Pennsylvania, Philadelphia, PA. Review provided by VeriMed Healthcare Network.
	www.mercksource.com /pp/us/cns/cns_hl_adam.jspzQzpgzEzzSzppdocszSzuszSzcnszSzcontentzSzadamzSzencyzSzarticlezSz001428zPzhtm (594 words)

	Picture of Heterochromia Iridis in Waardenburg's Syndrome * OTOLARYNGOLOGY HOUSTON
		Picture of Heterochromia Iridis in Waardenburg's Syndrome * OTOLARYNGOLOGY HOUSTON
		This page was last updated: September 6, 2005
		The discovery of the human gene that causes Type I WS came about after scientists speculated that the gene that causes 'splotch mice' (mice with a splotchy coat coloring) might be the same gene that causes WS in humans.
	www.ghorayeb.com /Waardenberg.html (164 words)

	Open Directory - Health: Conditions and Diseases: Genetic Disorders: Waardenburg Syndrome (Site not responding. Last check: 2007-10-09)
		Top: Health: Conditions and Diseases: Genetic Disorders: Waardenburg Syndrome
		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.
	dmoz.org /Health/Conditions_and_Diseases/Genetic_Disorders/Waardenburg_Syndrome (81 words)

	National Deaf Children's Society - Waardenburg's syndrome (Site not responding. Last check: 2007-10-09)
		YOU ARE HERE: Home / Information / Childhood deafness / Waardenburg's syndrome / Waardenburg's syndrome
		An NDCS factsheet providing information for parents on Waardenburg's syndrome.
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	www.ndcs.org.uk /information/childhood_deafness/waardenburgs_syndrome (202 words)

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