Disease Information for Waardenburg-Klein syndrome

Ads
Clinical Manifestations
Signs & Symptoms
Particular physiognomy/Odd looking kids
Craniofacial Abnormalities/Congenital
Facies particular
Wide Nasal Bridge
Depigmented patches, skin
Gray Hair
Gray hair Childhood
Gray hair, premature
Silvery gray hair/child
White Hair
Dysmorphic appearance/face
Eye symptoms/signs
Heterochromia/iris
Ptosis (blepharoptosis)
Clinical Presentation & Variations
Presentation/Multiple deformities newborn (odd look)
Facies/white forelock/iris heterochomic/lateral canthi/deafness
Disease Progression
Course/Chronic disorder
Course/Chronic only
Demographics & Risk Factors
Population Group
Child
Population/Pediatrics population
Family History
Family history/Deafness
Sex & Age Groups
Population/Child
Population/Child-Infant Only
Population/Children/all
Laboratory Tests
Abnormal Lab Findings (Non Measured)
DNATest specific/genetics laboratory/abnormality (Lab)
Associated Diseases & Rule outs
Associated Disease & Complications
Albinism
Deafness
Deafness, congenital
Deafness, sensorineural
Glaucoma
Hirschsprung disease
Hypertelorism/Wide Spaced Eyes
Skeletal dysplasia
Skeletal/bone malformations
Vitiligo
Waardenburg-Klein syndrome
Hereditary Deafness/Sensorineural
Disease Mechanism & Classification
Class
CLASS/Pediatric disorders (ex)
CLASS/Area specific/facial/head/neck (category)
CLASS/Facial area manifestation/disorder (ex)
CLASS/Skeletal (category)
CLASS/Eye involvement/disorder (ex)
CLASS/Eyes/accessory (category)
Pathophysiology
Pathophysiology/Gene locus Chromosome 20
Pathophysiology/Genomic indentifiers (polymorphism/snip/mutations)
Pathophysiology/Congenital facial dysplasia/dysostosis
Pathophysiology/Facial dysplasia syndrome
Pathophysiology/Hereditary deafness
Process
PROCESS/Autosomal dominant hereditary disease (ex).
PROCESS/Congenital/developmental (category)
PROCESS/Eponymic (category)
PROCESS/Hereditofamilial (category)
PROCESS/Multiple dysmorphic syndrome (ex)
PROCESS/Anomalies/Deformities/Malformations (EX)
PROCESS/Dystostosis/craniofacial (ex)
Synonyms
Synonym
Klein Syndrome, Klein Waardenburg Syndrome, Kleins Syndrome, Klein's Syndrome, Syndrome Klein Waardenburg, Syndrome Klein's, Syndrome Waardenburg Klein, Waardenburg Klein Syndrome, WAARDENBURG SYNDROME TYPE III, WAARDENBURG SYNDROME WITH UPPER LIMB ANOMALIES, WS3, Synonym/Wardenburg syndrome
Definition

Waardenburg Syndrome; WS; Waardenburg Syndrome Type I (WS1);

Waardenburg Syndrome Type II (WS2);Waardenburg Syndrome Type IIA (WS2A);Waardenburg Syndrome Type IIB (WS2B); Waardenburg Syndrome Type III (WS3);Waardenburg Syndrome Type IV (WS4); Waardenburg syndrome is a genetic disorder that may be evident at birth (congenital); The range and severity of associated symptoms and findings may vary greatly from case to case; However, primary features often include distinctive facial abnormalities; unusually diminished coloration (pigmentation) of the hair, the skin, and/or the iris of both eyes (irides); and/or congenital deafness; More specifically, some affected individuals may have an unusually wide nasal bridge due to sideways (lateral) displacement of the inner angles (canthi) of the eyes (dystopia canthorum); In addition, pigmentary abnormalities may include a white lock of hair growing above the forehead (white forelock); premature graying or whitening of the hair; differences in the coloration of the two irides or in different regions of the same iris (heterochromia irides); and/or patchy, abnormally light (depigmented) regions of skin (leukoderma); Some affected individuals may also have hearing impairment due to abnormalities of the inner ear (sensorineural deafness);

Researchers have described different types of Waardenburg syndrome (WS), based upon associated symptoms and specific genetic findings; For example, Waardenburg syndrome type I (WS1) is characteristically associated with sideways displacement of the inner angles of the eyes (ie, dystopia canthorum), yet type II (WS2) is not associated with this feature; In addition, WS1 and WS2 are known to be caused by alterations (mutations) of different genes; Another form, known as type III (WS3), has been described in which characteristic facial, eye (ocular), and hearing (auditory) abnormalities may be associated with distinctive malformations of the arms and hands (upper limbs); A fourth form, known as WS4 or Waardenburg-Hirschsprung disease, may be characterized by primary features of WS in association with Hirschsprung disease; The latter is a digestive (gastrointestinal) disorder in which there is absence of groups of specialized nerve cell bodies within a region of the smooth (involuntary) muscle wall of the large intestine;

In most cases, Waardenburg syndrome is transmitted as an autosomal dominant trait; A number of different disease genes have been identified that may cause Waardenburg syndrome in certain individuals or families (kindreds)---------[NORD 2005]--------------------------

(Edit)

External Links Related to Waardenburg-Klein syndrome
Google
Wikipedia
Merck
Images
PubMed (National Library of Medicine)
NGC (National Guideline Clearinghouse)
Medscape (eMedicine)
Harrison's Online (accessmedicine)
NEJM (The New England Journal of Medicine)
Ads