Methods We present the case of a 39 year old woman with facial features of WS presenting to the neurology clinic. [jns-journal.com]

We present a case of this subtype 4 that presented with a bilateral sensorineural hearing loss, mutism, delayed milestones, white forelock, Hirschsprung disease, and bilateral blue homochromatic irises, a finding which is not typical for this subtype. [cureus.com]

In the present study, all 5 patients presented with complete heterochromia and no partial heterochromia was observed. [spandidos-publications.com]

Typically it is an autosomal dominant condition, with incomplete penetrance, thus giving a wide variety of clinical presentations even within the same family. [aaopt.org]

Describe the clinical features of patients presenting with Waardenburg syndrome. Outline the differential diagnosis of patients presenting with Waardenburg syndrome. [ncbi.nlm.nih.gov]

• Sparse Eyebrows

  Ocular examination showed sparse eyebrows medically and total heterochromia irides. Multiple tiny pinpoint hyperkeratotic papules were scattered all over the body [Figure 3]. [ijpd.in]

• Hearing Impairment

  World Health Organization: Prevention of Blindness and Deafness; Grades of Hearing Impairment; 1980. Available from: http//www.who.org.hearingimpairment. [Last accessed on 2014 Mar 24]. 7. Faivre L, Vekemans M. [ojoonline.org]

  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. [rxlist.com]

  An early diagnosis with social and vocational training and rehabilitation depending upon the extent of involvement remain the only recluse for the hearing impaired individuals. [ijdvl.com]

• High Nasal Root

  Minor criteria include congenital leukoderma, synophrys/medial eyebrow flare, broad/high nasal root with prominent columella and hypoplastic alae nasi. [orpha.net]

  nasal root Hypoplasia of alae nasi Prematurely greying hair (predominately white by age 30 years) In 1995, Liu, Newton and Read 5 used the same list to define WS2. [onlinelibrary.wiley.com]

  nasal root 52-100% 0-14% medial eyebrow flare 63-70% 7% Type I variable phenotype sesorineural hearing loss congenital, non-progressive, uni- or bilateral most common type is profound bilateral white forelock may be present at birth or appear later may [en.wikibooks.org]

  Minor criteria include skin hypopigmentation (congenital leukoderma); synophrys/medial eyebrow flare; broad high nasal root, prominent columella; hypoplastic nasal alae; premature gray hair (age Second, a complete systemic workup of all such patients [kjophthal.com]

  Minor Criteria : Skin hypopigmentation (congenital leukoderma), synophrys/medial eyebrow flare, broad/high nasal root, prominent columella, hypoplastic alae nasi, premature gray hair (age less than 30 years) and affected first-degree relative. [preventiongenetics.com]

• High, Broad Nasal Root

  broad nasal root, confluent eyebrows, iris heterochromia, white forelock or early graying, and congenital sensorineural hearing loss, a clinical association now known as Waardenburg syndrome type 1.1 Four distinct subtypes have been described since then [ajnr.org]

Subsequent workup revealed an unremarkable electroencephalogram (EEG) and brain magnetic resonance imaging (MRI.) However, her seizures recurred. [jns-journal.com]

Minor criteria include skin hypopigmentation (congenital leukoderma); synophrys/medial eyebrow flare; broad high nasal root, prominent columella; hypoplastic nasal alae; premature gray hair (age Second, a complete systemic workup of all such patients [kjophthal.com]

Multiplex ligation-dependent probe amplification can be used to detect changes in targeted genes. [2] Also see Workup. Treatment No effective treatment is available for persons with Waardenburg syndrome. [emedicine.medscape.com]

Treatment Treatment Options: No ocular treatment is necessary. Patients may benefit from cochlear implants. [disorders.eyes.arizona.edu]

Exams and Tests Tests may include: Audiometry Bowel transit time Colon biopsy Genetic testing Treatment There is no specific treatment. Symptoms will be treated as needed. [pennstatehershey.adam.com]

If hypopigmentation affects more than half the body, depigmentation treatments may help. These treatments bleach all of your skin. They can make lighter patches less obvious. [healthline.com]

Prognosis Due to the very few number of cases described so far, information on prognosis and quality of life is limited. Disease progression is variable, with symptoms being more severe in homozygous than in heterozygous forms. [orpha.net]

Associations cleft lip and palate Hirschsprung disease CT inner ear abnormalities, including aplasia of the posterior semicircular canal 6,7 Treatment and prognosis Treatment of hearing loss includes: hearing augmentation cochlear implantation for severe [radiopaedia.org]

Outlook (Prognosis) Once hearing problems are corrected, most people with this syndrome should be able to lead a normal life. Those with rarer forms of the syndrome may have other complications. [ufhealth.org]

Etiology WS3 is caused by heterozygous or homozygous mutations in the PAX3 (2q36.1) gene. Diagnostic methods Diagnosis is made through criteria of the association of WS1 manifestations with limb anomalies. [orpha.net]

On the other hand, Waardenburg syndrome can be considered a disease because the etiology is known. [medlink.com]

Sections Continuing Education Activity Introduction Etiology Epidemiology Pathophysiology Histopathology History and Physical Evaluation Treatment / Management Differential Diagnosis Prognosis Complications Consultations Deterrence and Patient Education [pubmed.ncbi.nlm.nih.gov]

Summary Epidemiology Incidence is unknown, but WS3 is the rarest form of all Waardenburg syndrome types. [orpha.net]

Sections Continuing Education Activity Introduction Etiology Epidemiology Pathophysiology Histopathology History and Physical Evaluation Treatment / Management Differential Diagnosis Prognosis Complications Consultations Deterrence and Patient Education [pubmed.ncbi.nlm.nih.gov]

Epidemiology Frequency The frequency of Waardenburg syndrome is estimated to be 1 case per 212,000 persons in the general population of the Netherlands, but owing to a low penetrance of about 20%, the frequency of the entire syndrome (with or without [emedicine.medscape.com]

The pigmentary system: physiology and pathophysiology. 2006. pp. 541-50. [dermatologyadvisor.com]

Pathophysiology of the depigmentation includes abnormal distribution of neural crest-derived melanocytes during embryogenesis resulting in a patchy area of depigmentation[2]. [eurorad.org]

Sections Continuing Education Activity Introduction Etiology Epidemiology Pathophysiology Histopathology History and Physical Evaluation Treatment / Management Differential Diagnosis Prognosis Complications Consultations Deterrence and Patient Education [pubmed.ncbi.nlm.nih.gov]

Pathophysiology WS is a genetic disorder with autosomal dominant inheritance.[5] There are various hypotheses proposed about the pathogenesis and to explain the different types and clinical features. [ncbi.nlm.nih.gov]

Pathophysiology Waardenburg syndrome is a rare disease with an autosomal dominant mode of inheritance. [emedicine.medscape.com]

Prevention How can I prevent Waardenburg syndrome? There's no way to prevent Waardenburg syndrome since a genetic mutation causes the condition. [my.clevelandclinic.org]

Prevention appears possible through genetic family counselling. Zusammenfassung Anhand einer Familienbeobachtung wird das Waardenburg Syndrom Typ I dargestellt. [thieme-connect.de]

What OCA means for the affected person and what can be done to prevent and manage the various problems. [bettercare.co.za]

World Health Organization: Prevention of Blindness and Deafness; Grades of Hearing Impairment; 1980. Available from: http//www.who.org.hearingimpairment. [Last accessed on 2014 Mar 24]. 7. Faivre L, Vekemans M. [ojoonline.org]

The most common treatments for Waardenburg syndrome include: cochlear implants or a hearing aid to treat hearing loss developmental support, such as special schools, for children with severe hearing loss surgery to prevent or remove blockages in the intestines [medicalnewstoday.com]