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

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

The affected males presented with profound deafness and severe pigmentary abnormalities of the skin. [osti.gov]

• Surgical Procedure

  The specific surgical procedures performed will depend upon the severity and location of the anatomical abnormalities, their associated symptoms, and other factors. [rarediseases.org]

• Prognathism

  These may include an unusually rounded nasal tip that may be slightly upturned; abnormal “smoothness” of the vertical groove of the upper lip (philtrum); full lips; and/or mild protrusion of the lower jaw (mandibular prognathism). [rarediseases.org]

• White Eyebrows

  [from NCI] Show allHide all Abnormality of head or neck Synophrys Telecanthus Underdeveloped nasal alae White eyebrow White eyelashes Wide nasal bridge Abnormality of the eye Heterochromia iridis Hypoplastic iris stroma Abnormality of the integument Albinism [ncbi.nlm.nih.gov]

  White eyebrow MedGen UID: 373165 •Concept ID: C1836737 • Finding White color (lack of pigmentation) of the eyebrow. [www-ncbi-nlm-nih-gov.ezproxy.u-pec.fr]

  eyebrow Pale eyebrow 0002226 White eyelashes Blonde eyelashes Pale eyelashes [ more ] 0002227 Wide nasal bridge Broad nasal bridge Broad nasal root Broadened nasal bridge Increased breadth of bridge of nose Increased breadth of nasal bridge Increased [rarediseases.info.nih.gov]

• 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]

• Long 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]

• Hearing Impairment

  impairment IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. [ncbi.nlm.nih.gov]

  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]

  impairment 0008527 Hypoplastic iris stroma 0007990 Partial albinism Partial absent skin pigmentation 0007443 Synophrys Monobrow Unibrow [ more ] 0000664 Underdeveloped nasal alae Underdeveloped tissue around nostril 0000430 Variable expressivity 0003828 [rarediseases.info.nih.gov]

• Heterochromia Iridis

  [from NCI] Show allHide all Abnormality of head or neck Synophrys Telecanthus Underdeveloped nasal alae White eyebrow White eyelashes Wide nasal bridge Abnormality of the eye Heterochromia iridis Hypoplastic iris stroma Abnormality of the integument Albinism [ncbi.nlm.nih.gov]

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

  WS2 differs from type 1 and some other types of WS by the absence of dystopia canthorum (lateral displacement of the inner canthi of the eyes).[1][2]Sensorineural hearing loss occurs in the majority of people with WS2, and heterochromia iridis (differences [rarediseases.info.nih.gov]

• Blue Eyes

  People with this condition often have very pale blue eyes or different colored eyes, such as one blue eye and one brown eye. Sometimes one eye has segments of two different colors. [medlineplus.gov]

  These clinical features are part of WS2, while blue eyes with hypoplastic iris stroma may correspond to Tietz syndrome. [bmjopen.bmj.com]

  eyes); or abnormal pigmentation of the fundus Type 2 Type 2 has similar clinical features to type 1 Waardenburg syndrome, but the inner canthi are normal. [dermnetnz.org]

  The patient exhibited complete iris hypopigmentation (pale blue eyes) bilaterally. He did not have any neurological defect or skin abnormality, and had no family history of WS. [spandidos-publications.com]

• Broad Nasal Bridge

  nasal bridge Broad nasal root Broadened nasal bridge Increased breadth of bridge of nose Increased breadth of nasal bridge Increased width of bridge of nose Increased width of nasal bridge Nasal bridge broad Wide bridge of nose Widened nasal bridge [ [rarediseases.info.nih.gov]

• Hypertelorism

  Hypertelorism MedGen UID: 9373 •Concept ID: C0020534 • Finding A condition in which there is an abnormally increased distance between two organs or bodily parts; most often, this term is referring to an increased distance between the orbits (orbital hypertelorism [www-ncbi-nlm-nih-gov.ezproxy.u-pec.fr]

  Rarely, affected individuals also have widely spaced eyes (ocular hypertelorism). As mentioned previously, researchers have described different forms of WS based upon certain symptoms and specific genetic findings. [rarediseases.org]

• High Nasal Root

  The general manifestations included hearing loss (1/5), broad high nasal root (2/5) and hypoplasia of alae nasi (2/5). [spandidos-publications.com]

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]

Treatment Treatment Options: No ocular treatment is necessary but assistive hearing devices can be helpful. [disorders.eyes.arizona.edu]

Treatment may include the use of hearing aids and/or cosmetic products or treatments (if desired) for skin hypopigmentation.[1] Waardenburg syndrome type 2 can be further divided into subtypes based on the genetic cause, when the responsible gene can [rarediseases.info.nih.gov]

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]

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