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

Describe the clinical features of patients presenting with Waardenburg syndrome. Outline the differential diagnosis of patients presenting with Waardenburg syndrome. [statpearls.com]

Acronym WS2A Keywords Disclaimer Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. [uniprot.org]

Waardenburg syndrome type 2 (WS2) patients do not present with dystopia canthorum but have other typical WS features including pigmentation anomalies and varying degrees of sensorineural deafness. [cags.org.ae]

• Vomiting

  Associated symptoms and findings may include an abnormal accumulation of feces within the colon; widening of the colon above the affected segment (megacolon); abdominal bloating (distension); vomiting; lack of appetite (anorexia); failure to grow and [rarediseases.org]

• Hearing Impairment

  Genes related to Waardenburg Syndrome, Type 2a; Ws2a MITF View recommended genes panels Clinical Features Top most frequent phenotypes and symptoms related to Waardenburg Syndrome, Type 2a; Ws2a Hearing impairment Sensorineural hearing impairment Wide [mendelian.co]

  In carrier females, variable hearing impairment was documented without any pigmentary changes. 9 refs., 1 fig. Authors: Hadassah Univ. [osti.gov]

  Zimmer, Astrid Laut, Philipp Demmer, Bernd Rösler, Rudolf Happle, Silvina Sartori, Judith Fischer Pigmentary disorders with anomalies of skin, hair and iris pigmentation are frequently found associated with congenital hearing impairment in several syndromes [x-mol.com]

  The incidence of WS is estimated as 1 on 42,000 among Caucasian populations, or 2–5% among patients with congenital deafness, and 0.9–2.8% among adults with hearing impairment [2,3,5–7]. [tandfonline.com]

  Sensorineural hearing loss is present in the majority of people with WS2 (almost 80%), and heterochromia iridum (differences in eye coloring) is present in almost half.[1] Progressive hearing loss has also been reported in some people with WS2.[3] In [rarediseases.info.nih.gov]

• Heterochromia Iridis

  [from OMIM] Show allHide all Abnormality of head or neck Underdeveloped nasal alae Wide nasal bridge Abnormality of the eye Heterochromia iridis Hypoplastic iris stroma Abnormality of the integument Albinism Numerous pigmented freckles Partial albinism [ncbi.nlm.nih.gov]

  Major criteria Sensorineural deafness Iris pigmentary abnormality, such as heterochromia iridis – complete, partial, or segmental; isohypochromia iridis; or fundus pigmentary abnormalities Abnormalities of hair pigmentation, such as white forelock, eyebrows [dermnetnz.org]

  The boy presented with heterochromia iridis and bilateral hearing loss, but did not show dystopia canthorum. [bmjopen.bmj.com]

  A man aged 28-years represented with symptoms of mild unilateral hearing loss (right ear), complete heterochromia iridis, premature graying prior to 30 years of age, and synophrys. [x-mol.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 but assistive hearing devices can be helpful. [disorders.eyes.arizona.edu]

It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. Our staff consists of biologists and biochemists that are not trained to give medical advice. [uniprot.org]

Current treatment for amblyopia mainly includes optical correction, patching, pharmacological treatment, optical treatment, Bangerter filters and surgery (17). [spandidos-publications.com]

As there is no definitive treatment, the family and the patient's awareness regarding symptomatic treatment is also very important. [statpearls.com]

What is the treatment for Waardenburg syndrome? As Waardenburg syndrome is a genetic disease there is no curative treatment. Genetic counselling may be helpful for affected patients who want to start a family. [dermnetnz.org]

Prognosis WS is a chronic condition. Life expectancy in children with Waardenburg syndrome is normal. [statpearls.com]

Prognosis Children with Waardenburg syndrome have a normal life expectancy. [emedicine.medscape.com]

PMID: 9192262Free PMC Article Prognosis Cesca F, Bettella E, Polli R, Cama E, Scimemi P, Santarelli R, Murgia A Int J Pediatr Otorhinolaryngol 2018 Jan;104:88-93. Epub 2017 Oct 31 doi: 10.1016/j.ijporl.2017.10.042. [www-ncbi-nlm-nih-gov.ezproxy.u-pec.fr]

PMID: 12180152Free PMC Article Etiology Li S, Guo M, Ruan B, Liu Y, Cui X, Han W, Li R Genet Test Mol Biomarkers 2020 May;24(5):249-255. Epub 2020 Apr 3 doi: 10.1089/gtmb.2019.0231. [www-ncbi-nlm-nih-gov.ezproxy.u-pec.fr]

Genetic counseling is necessary.[4] Etiology WS is an autosomal dominant disorder. [statpearls.com]

Mice lacking ZFHX1B, the gene that codes for Smad-interacting protein-1, reveal a role for multiple neural crest cell defects in the etiology of Hirschsprung disease-mental retardation syndrome. Am J Hum Genet. 2003;72(2):465-70. [malattierare.regione.veneto.it]

Type 4 WS is due to mutations in the genes for one of its receptors, EDNRB or endothelin-3, which is autosomal recessive and a very rare variant.[6] Epidemiology The prevalence is variable around the world. [statpearls.com]

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]

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. [statpearls.com]

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

These may include the use of specially tinted glasses or contact lenses (e.g., to help reduce possible sensitivity to light), measures to help prevent or treat infection, or other preventive or therapeutic steps. [rarediseases.org]

For severe cases, early intervention is suggested to protect their visual development and prevent amblyopia. [spandidos-publications.com]