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

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]

The present study investigated three WS pedigrees, and clinical classification was made according to the patients' symptoms. Written informed consent was obtained from the family members who were willing to participate in the present study. [spandidos-publications.com]

Arnheiter Economics Genes & development 2019 The current understanding of MITF's role and regulation in development and disease, as well as those of the MITF-related factors TFEB and TFE3, are presented, and key areas where the knowledge ofMITF regulation [semanticscholar.org]

Description of phenotype of proband II:4 is presented in. This patient had no dystopia canthorum (index W = 1.66 cm) (Figure 1(b)). [tandfonline.com]

• Abdominal Bloating

  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]

• Short Arm

  Each chromosome has a short arm designated as “p” and a long arm identified by the letter “q.” Chromosomes are further subdivided into bands that are numbered. Therefore, “chromosome 2q35” refers to band 35 on the long arm of chromosome 2. [rarediseases.org]

• Freckles

  [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]

  As a result, affected individuals of this family presented a striking frequency of numerous brown freckles (6/7, 85.71%). [bmcmedgenomics.biomedcentral.com]

  Facial freckles and pigmentation on the neck, chest and abdomen, and upper limbs were observed in II:5, II:7 and III:9 in family 1. [spandidos-publications.com]

• Freckled Skin

  […] and eyelashes at <30-years old; facial freckles; skin depigmentation leukoplakia), wide root of the nose, and synophrys. [spandidos-publications.com]

• 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]

  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]

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

  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]

  Some affected individuals may also have hearing impairment due to abnormalities of the inner ear (sensorineural deafness). [rarediseases.org]

• 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]

  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]

  Definition: The features of Waardenburg syndrome are wide bridge of the nose owing to lateral displacement of the inner canthus of each eye, pigmentary disturbance (frontal white blaze of hair, heterochromia iridis, white eye lashes, leukoderma), and [humpath.com]

  Waardenburg syndrome type 1 (WS1 ) is characterized by pigmentary abnormalities of the hair, including a white forelock and premature graying; pigmentary changes of the iris, such as heterochromia iridis and brilliant blue eyes; congenital sensorineural [mendelian.co]

• Retinal Pigmentation

  E-mail: [email protected] Received January 21, 2019 Accepted April 04, 2019 Waardenburg syndrome (WS) is an auditory-pigmentary syndrome caused by the absence of melanocytes throughout the body, including hair, iris, retinal pigment epithelium (RPE), [journals.lww.com]

  MITF is a basic helix-loop-helix (hHLH)-leucine zipper protein that plays an important role in the development of various cell types, including neural crest-derived melanocytes and optic cup-derived retinal pigment epithelial cells [16]. [tandfonline.com]

  There are 520 amino acid residues in MITF isoform A, expressed in multiple cell types such as melanocytes and retinal pigment epithelium (RPE) cells. [bmcmedgenomics.biomedcentral.com]

• Suggestibility

  Genet. (2004) [Pubmed] Analyses of loss-of-function mutations of the MITF gene suggest that haploinsufficiency is a cause of Waardenburg syndrome type 2A. Nobukuni, Y., Watanabe, A., Takeda, K., Skarka, H., Tachibana, M. Am. J. Hum. [wikigenes.org]

  Acoustic conductance detected 'A' type wave and ossa temporale CT and high-resolution MRI observed no abnormality, suggesting a normal middle ear. Both ears did not pass the DPOAE test, suggesting pathology of the cochlea. [spandidos-publications.com]

  Recent evidence suggests that SOX10 mutations can also play a role via MITF promoter modulation (WS2E) (611584). Type 4 is also the result of mutations in at last three genes. [disorders.eyes.arizona.edu]

  Digenic inheritance of WS with ocular albinism has been suggested (Chiang et al., 2009). Mutations in MITF are also known to be causative for Tietz syndrome (Smith et al., 2000). [preventiongenetics.com]

  As mentioned above, evidence suggests that the MITF gene is regulated by the PAX3 gene. [rarediseases.org]

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]

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]

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]

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

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

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

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]

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]

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]

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]

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]