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Waardenburg Syndrome, Type 1

WS1


Presentation

  • Presentation of Case: A 7-year old Filipino girl was referred for ophthalmologic evaluation for bilateral blue eyes. She also presented with an eyebrow flare, broad nasal root, dystopia canthorum, heterochromic fundi and mild hearing loss.[sciencedomain.org]
  • Case presentation : We present a 9 months old male child which attended the regular clinic with features of Waardenburg syndrome type I as dystonia canthorum, heterochromiairidis and skin pigmentations anomalies.[scitechnol.com]
  • The boy presented with heterochromia iridis and bilateral hearing loss, but did not show dystopia canthorum.[bmjopen.bmj.com]
  • Brief report First Online: 01 March 2014 Abstract A 16-day-old girl with Waardenburg syndrome type 1 presented with a right multicystic dysplastic kidney (MDK) and hydronephrosis in the left kidney.[link.springer.com]
  • Synophrys is often present and the medial portions of the eyebrows can be exceptionally bushy. Sometimes the poliosis involves the lashes and eyebrows. Systemic Features: Congenital sensorineural deafness is an important feature.[disorders.eyes.arizona.edu]
Hearing Impairment
  • Synonyms WAARDENBURG SYNDROME WITH DYSTOPIA CANTHORUM Classification developmental, eye, genetic, otorhinolaryngological, skin Phenotypes Aplasia of the vagina ; Autosomal dominant inheritance ; Blepharophimosis ; Blue irides ; Congenital sensorineural hearing[mousephenotype.org]
  • Treatment or Management of the Condition There are no treatments of the syndrome; however, hearing aids maybe needed for some individuals and maybe some sort of schooling for the hearing impaired individuals.[wiki.ggc.edu]
  • Family history revealed hearing impairment in the elder sister and premature graying of the frontal hair with a broad nasal root in both the siblings and the mother.[tjmrjournal.org]
  • This disease is grouped under: Waardenburg syndrome type 1 is a genetic condition characterized by eyes that appear widely spaced, congenital hearing loss, and patchy pigment disturbances of the iris, hair and skin. 0000504 Congenital sensorineural hearing[rarediseases.info.nih.gov]
  • 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.[daviddarling.info]
Premature Graying of the Hair
  • graying of the hair (by age 30) Waardenburg syndrome type 2 is defined as having all the features of type 1 except dystopia canthorum. 77% of individuals with type 2 have hearing loss.[verywell.com]
  • Signs and Symptoms Deafness (bilateral or unilateral) White patches in the skin Premature graying of the hair Presence of white locks of hair Heterochromia- the color of the eyes do not match Wide set eyes (hypertelorism) A prominent square jaw Eyebrows[syndromespedia.com]
  • Minor criteria include skin hypopigmentation (congenital leukoderma/ white skin patches), medial eyebrow flare (synophrys), broad nasal root, hypoplasia alae nasi, and premature graying of the hair.[panafrican-med-journal.com]
Distractibility
Withdrawn
  • […] symbols: HUP2, WS1 ) Mouse Orthologs Pax3 (Withdrawn symbols: Pax-3, Sp, Splchl2 ) Source OMIM:193500 (names, synonyms, disease associated genes) , Orphanet (disease classes) , HGNC, Ensembl, MGI (gene symbols, gene orthology) HPO (phenotypes) Mouse[mousephenotype.org]

Treatment

  • No treatment is discovered for the treatment of this type of Waardenburg Syndrome. Discuss Waardenburg Syndrome Type 1 in our forums Discuss Waardenburg Syndrome Type 1 with other members of Medigest in our forums.[medigest.uk]
  • Treatment or Management of the Condition There are no treatments of the syndrome; however, hearing aids maybe needed for some individuals and maybe some sort of schooling for the hearing impaired individuals.[wiki.ggc.edu]
  • Treatment Treatment Options: No ocular treatment is necessary. Patients may benefit from cochlear implants.[disorders.eyes.arizona.edu]
  • You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.[rarediseases.info.nih.gov]
  • Waardenburg Syndrome Treatment The treatment of WS is not yet discovered. As such, the curative measures only aim to treat the symptoms of the syndrome. Again, the approach for treatment mainly involves dealing with the problems related to hearing.[hxbenefit.com]

Prognosis

  • Associations cleft lip and palate Hirschsprung disease CT scan inner ear abnormalities, including aplasia of the posterior semicircular canal 6,7 Treatment and prognosis hearing loss: hearing augmentation cochlear implantation for severe hearing loss[radiopaedia.org]
  • The authors present such a case of long segment aganglionosis in a 4-day-old male with Waardenburg-Shah syndrome and discuss diagnosis, treatment, and prognosis.[panafrican-med-journal.com]

Etiology

  • Molecular Etiology of Hereditary Single-Side Deafness. Medicine , Vol. 94, Issue. 43, p. e1817.[cambridge.org]
  • […] premature greying different colored eyes Etiology [ edit ] WT1: PAX3 gene on chromosome 2 (2q35) codes for DNA binding transcription factors expressed in the early embryo WS2: MITF gene mutations (3p14.1-p12.3) have been described in 10-20% MITF gene[en.wikibooks.org]

Epidemiology

  • Chapters on epidemiology, embryology, non-syndromic hearing loss, and syndromic forms of hearing loss have all been updated with particular attention to the vast amount of new information on molecular mechanisms, and chapters on clinical and molecular[books.google.com]
  • Epidemiology of Waardenburg Syndrome (WS) Waardenburg syndrome affects both males and females of all races.[syndromespedia.com]
Sex distribution
Age distribution

Pathophysiology

  • Nathan and Oski’s is the only comprehensive product on the market that relates pathophysiology in such depth to hematologic and oncologic diseases affecting children.[books.google.it]
  • For detailed information about rare diseases (pathophysiology, treatment options), treatment centres, and patient organisations, visit Orphanet (www.orpha.net) to find information about more than 5.000 rare diseases.[orphananesthesia.eu]

Prevention

  • Therefore, prevention by genetic counseling/testing is cost-effective as a preventive strategy and, therefore, highly advocated. Declaration of patient consent The authors certify that they have obtained all appropriate patient consent forms.[tjmrjournal.org]
  • Genetic Counseling Waardenburg syndrome can be prevented by genetic counseling.[syndromespedia.com]
  • Tea tree oil : Tea tree oil is purported to have antiseptic properties, and has been used traditionally to prevent and treat infections.[livingnaturally.com]
  • Researchers believe that all PAX3 gene mutations have the same effect: they prevent the PAX3 protein from binding to DNA and regulating the activity of other genes.[ghr.nlm.nih.gov]
  • In the melanocyte lineages, Pax3 is known to be a """"""""nodal"""""""" regulator, simultaneously activating a determination program, thereby maintaining the lineage identity of the progenitor, while preventing terminal differentiation.[grantome.com]

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