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<!--
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UID=91023
|
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ConceptID=C0344312
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">White forelock</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>91023</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0344312</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>Canities; Poliosis of anterior hair; Poliosis of forelock hair; White part of hair above forehead</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>White forelock (247564004); Canities (247564004)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>HPO:</td>
|
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<td><a target="_blank" title="Human Phenotype Ontology" href="https://hpo.jax.org/app/browse/term/HP:0002211">HP:0002211</a></td></tr>
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<div class="portlet mgSection" id="ID_100">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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||
<div class="portlet_content ln">A triangular depigmented region of white hairs located in the anterior midline of the scalp. [from <a title="Human Phenotype Ontology" href="http://www.human-phenotype-ontology.org" class="defSource" target="_blank">HPO</a>]</div>
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<div class="portlet mgSection" id="ID_118">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="TLline">White forelock</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/871273" ref="tree=MeSH" title="MedGen record for Abnormality of the integument">Abnormality of the integument</a></span><ul><li><span class="TLline"><a href="/medgen/869100" ref="tree=MeSH" title="MedGen record for Abnormal skin adnexa morphology">Abnormal skin adnexa morphology</a></span><ul><li><span class="TLline"><a href="/medgen/56381" ref="tree=MeSH" title="MedGen record for Abnormal hair morphology">Abnormal hair morphology</a></span><ul><li><span class="TLline"><a href="/medgen/869743" ref="tree=MeSH" title="MedGen record for Abnormality of hair pigmentation">Abnormality of hair pigmentation</a></span><ul><li><span class="TLline"><a href="/medgen/480031" ref="tree=MeSH" title="MedGen record for Hypopigmentation of hair">Hypopigmentation of hair</a></span><ul><li><span class="TLline"><a href="/medgen/868981" ref="tree=MeSH" title="MedGen record for Patchy hypopigmentation of hair">Patchy hypopigmentation of hair</a></span><ul><li><span class="matched_ds">White forelock</span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_112">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Conditions_with_this_feature">Conditions with this feature</h1><a sid="112" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln clinfeat">
|
||
<div class="divPopper rprt" id="rdis_86948"><div><strong>Waardenburg syndrome type 3</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>86948</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information."><span class="highlight" style="background-color:">C0079661</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Waardenburg syndrome type 3 is an auditory-pigmentary syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes; congenital sensorineural hearing loss; presence of 'dystopia canthorum,' the lateral displacement of the ocular inner canthi; and upper limb abnormalities (reviews by Read and Newton, 1997 and Pingault et al., 2010). WS type 3 is also referred to as 'Klein-Waardenburg syndrome' (Gorlin et al., 1976). Clinical Variability of Waardenburg Syndrome Types 1-4 Waardenburg syndrome has been classified into 4 main phenotypes. Type I Waardenburg syndrome (WS1; 193500) 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 hearing loss; and 'dystopia canthorum.' WS type II (WS2) is distinguished from type I by the absence of dystopia canthorum. WS type III has dystopia canthorum and is distinguished by the presence of upper limb abnormalities. WS type IV (WS4; 277580), also known as Waardenburg-Shah syndrome, has the additional feature of Hirschsprung disease (reviews by Read and Newton, 1997 and Pingault et al., 2010).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/86948">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_36361"><div><strong>Piebaldism</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>36361</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0080024</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Piebaldism is a rare autosomal dominant trait characterized by the congenital absence of melanocytes in affected areas of the skin and hair. A white forelock of hair, often triangular in shape, may be the only manifestation, or both the hair and the underlying forehead may be involved. The eyebrows and eyelashes may be affected. Irregularly shaped white patches may be observed on the face, trunk, and extremities, usually in a symmetrical distribution. Typically, islands of hyperpigmentation are present within and at the border of depigmented areas (summary by Thomas et al., 2004).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/36361">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_91261"><div><strong>Branchiooculofacial syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>91261</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0376524</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Branchiooculofacial syndrome (BOFS) is characterized by branchial (cervical or infra- or supra-auricular) skin defects that range from barely perceptible thin skin or hair patch to erythematous "hemangiomatous" lesions to large weeping erosions; ocular anomalies that can include microphthalmia, anophthalmia, coloboma, cataract, and nasolacrimal duct stenosis/atresia; and facial anomalies that can include dolichocephaly, hypertelorism or telecanthus, broad nasal tip, upslanted palpebral fissures, cleft lip or prominent philtral pillars that give the appearance of a repaired cleft lip (formerly called "pseudocleft lip") with or without cleft palate, upper lip pits, and lower facial weakness (asymmetric crying face or partial weakness of cranial nerve VII). Malformed and prominent pinnae and hearing loss from inner ear and/or petrous bone anomalies are common. Intellect is usually normal.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/91261">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_373160"><div><strong>PCWH syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>373160</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1836727</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">PCWH syndrome is a complex neurocristopathy that includes features of 4 distinct syndromes: peripheral demyelinating neuropathy (see 118200), central dysmyelination, Waardenburg syndrome, and Hirschsprung disease (see 142623) (Inoue et al., 2004). Inoue et al. (2004) proposed the acronym PCWH for this disorder.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/373160">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_373973"><div><strong>Waardenburg syndrome type 2B</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>373973</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1838447</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Waardenburg syndrome type II (WS2) is an auditory-pigmentary syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes; congenital sensorineural hearing loss; and the absence of 'dystopia canthorum,' the lateral displacement of the inner canthus of each eye, which is seen in some other forms of WS (Hughes et al., 1994). WS type 2B (WS2B) maps to chromosome 1p. Waardenburg syndrome type 2 is genetically heterogeneous (see WS2A; 193510). For a description of other clinical variants of Waardenburg syndrome, see WS1 (193500), WS3 (148820), and WS4 (277580).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/373973">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_376211"><div><strong>Waardenburg syndrome type 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>376211</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1847800</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Waardenburg syndrome type I (WS1) is an auditory-pigmentary disorder comprising congenital sensorineural hearing loss and pigmentary disturbances of the iris, hair, and skin along with dystopia canthorum (lateral displacement of the inner canthi). The hearing loss in WS1, observed in approximately 60% of affected individuals, is congenital, typically non-progressive, either unilateral or bilateral, and sensorineural. Most commonly, hearing loss in WS1 is bilateral and profound (>100 dB). The majority of individuals with WS1 have either a white forelock or early graying of the scalp hair before age 30 years. The classic white forelock observed in approximately 45% of individuals is the most common hair pigmentation anomaly seen in WS1. Affected individuals may have complete heterochromia iridium, partial/segmental heterochromia, or hypoplastic or brilliant blue irides. Congenital leukoderma is frequently seen on the face, trunk, or limbs.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/376211">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_376362"><div><strong>White forelock with malformations</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>376362</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1848463</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A multiple congenital anomalies syndrome with characteristics of poliosis, distinct facial features (epicanthal folds, hypertelorism, posterior rotation of ears, prominent philtrum, high-arched palate) and congenital anomalies/malformations of the eye (blue sclera), cardiopulmonary (atrial septal defect, prominent thoracic and abdominal veins) and skeletal (clinodactyly, syndactyly of the fingers and second and third toes) systems. There have been no further descriptions in the literature since 1980.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/376362">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_341244"><div><strong>Waardenburg syndrome type 4A</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>341244</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1848519</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Waardenburg syndrome type 4 (WS4), also known as Waardenburg-Shah syndrome, is an auditory-pigmentary syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital sensorineural hearing loss, and Hirschsprung disease (reviews by Read and Newton, 1997 and Pingault et al., 2010). WS type 4A is caused by mutation in the EDNRB gene (131244). Clinical Variability of Waardenburg Syndrome Types 1-4 Waardenburg syndrome has been classified into 4 main phenotypes. Type I Waardenburg syndrome (WS1; 193500) 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 hearing loss; and 'dystopia canthorum.' WS type II (WS2) is distinguished from type I by the absence of dystopia canthorum. WS type III (WS3; 148820) has dystopia canthorum and is distinguished by the presence of upper limb abnormalities. WS type 4 has the additional feature of Hirschsprung disease (reviews by Read and Newton, 1997 and Pingault et al., 2010). Genetic Heterogeneity of Waardenburg Syndrome Type 4 Waardenburg syndrome type 4 is genetically heterogeneous. WS4B (613265) is caused by mutation in the EDN3 gene (131242) on chromosome 20q13, and WS4C (613266) is caused by mutation in the SOX10 gene (602229) on chromosome 22q13.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/341244">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_349786"><div><strong>Waardenburg syndrome type 2A</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>349786</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1860339</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Waardenburg syndrome type 2 (WS2) is an autosomal dominant auditory-pigmentary syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes; congenital sensorineural hearing loss; and the absence of 'dystopia canthorum,' the lateral displacement of the ocular inner canthi, which is seen in some other forms of WS (reviews by Read and Newton, 1997 and Pingault et al., 2010). Clinical Variability of Waardenburg Syndrome Types 1-4 Waardenburg syndrome has been classified into 4 main phenotypes. Waardenburg syndrome type 1 (WS1; 193500) 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 hearing loss; and 'dystopia canthorum.' WS type 2 (WS2) is distinguished from type 1 by the absence of dystopia canthorum. WS type 3 (WS3; 148820) has dystopia canthorum and is distinguished by the presence of upper limb abnormalities. WS type 4 (WS4; 277580), also known as Waardenburg-Shah syndrome, has the additional feature of Hirschsprung disease (reviews by Read and Newton, 1997 and Pingault et al., 2010). Genetic Heterogeneity of Waardenburg Syndrome Type 2 Waardenburg syndrome type 2 is a genetically heterogeneous disorder. WS2B (600193) has been mapped to chromosome 1p. WS2C (606662) has been mapped to chromosome 8p23. WS2E (611584) is caused by mutation in the SOX10 gene (602229) on chromosome 22q13. WS2F (619947) is caused by mutation in the KITLG gene (184745) on chromosome 12q21. A form of WS2, designated WS2D, was thought to be caused by deletion of the SNAI2 gene (602150.0001), but the deletion has been reclassified as a variant of unknown significance.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/349786">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_355712"><div><strong>Deaf blind hypopigmentation syndrome, Yemenite type</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>355712</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1866425</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An exceedingly rare genetic disorder with characteristics of cutaneous pigmentation anomalies, ocular disorders and hearing loss. The syndrome was described in 1990 in two patients from the same Yemenite family. A brother and sister were described as having cutaneous patchy hypo and hyperpigmentation on the trunk and extremities, gray hair, white brows and lashes. Ocular manifestations were microcornea, coloboma and abnormalities of the anterior chamber of the eye. Both patients had severe hearing loss and dental abnormalities. Intelligence was reported to be normal. Their parents were unaffected and possibly consanguineous. The cause of this syndrome has not been determined. The inheritance pattern appears to be autosomal recessive.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/355712">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_358177"><div><strong>Piebald trait-neurologic defects syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>358177</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1868311</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A rare genetic pigmentation anomaly of the skin syndrome with characteristics of ventral as well as dorsal leukoderma of the trunk and a congenital white forelock in association with cerebellar ataxia, impaired motor coordination, intellectual disability of variable severity and progressive, mild to profound, unilateral or bilateral sensorineural hearing loss. There have been no further descriptions in the literature since 1971.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/358177">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_398476"><div><strong>Waardenburg syndrome type 2E</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>398476</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C2700405</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Waardenburg syndrome type 2 (WS2) is an auditory-pigmentary syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes; congenital sensorineural hearing loss; and the absence of 'dystopia canthorum,' the lateral displacement of the inner canthus of each eye, which is seen in some other forms of WS (review by Read and Newton, 1997). Individuals with WS type 2E (WS2E) may have neurologic abnormalities, including mental impairment, myelination defects, and ataxia. Waardenburg syndrome type 2 is genetically heterogeneous (see WS2A, 193510). For a description of other clinical variants of Waardenburg syndrome, see WS1 (193500), WS3 (148820), and WS4 (277580).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/398476">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_413310"><div><strong>Waardenburg syndrome type 4C</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>413310</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C2750452</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Waardenburg syndrome type 4 is an auditory-pigmentary syndrome characterized by pigmentary abnormalities of the eye, deafness, and Hirschsprung disease (review by Read and Newton, 1997). WS type 4C is caused by mutation in the SOX10 gene (602229). WS type 4 is genetically heterogeneous (see WS4A; 277580). For a description of other clinical variants of Waardenburg syndrome, see WS1 (193500), WS2 (193510), and WS3 (148820).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/413310">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_412961"><div><strong>Waardenburg syndrome type 4B</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>412961</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C2750457</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Waardenburg syndrome type 4 is an auditory-pigmentary syndrome characterized by pigmentary abnormalities of the eye, deafness, and Hirschsprung disease (review by Read and Newton, 1997). WS type 4B is caused by mutation in the EDN3 gene (131242). WS type 4 is genetically heterogeneous (see WS4A; 277580). For a description of other clinical variants of Waardenburg syndrome, see WS1 (193500), WS2 (193510), and WS3 (148820).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/412961">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_462793"><div><strong>Dyskeratosis congenita, autosomal dominant 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>462793</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C3151443</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Dyskeratosis congenita and related telomere biology disorders (DC/TBD) are caused by impaired telomere maintenance resulting in short or very short telomeres. The phenotypic spectrum of telomere biology disorders is broad and includes individuals with classic dyskeratosis congenita (DC) as well as those with very short telomeres and an isolated physical finding. Classic DC is characterized by a triad of dysplastic nails, lacy reticular pigmentation of the upper chest and/or neck, and oral leukoplakia, although this may not be present in all individuals. People with DC/TBD are at increased risk for progressive bone marrow failure (BMF), myelodysplastic syndrome or acute myelogenous leukemia, solid tumors (usually squamous cell carcinoma of the head/neck or anogenital cancer), and pulmonary fibrosis. Other findings can include eye abnormalities (epiphora, blepharitis, sparse eyelashes, ectropion, entropion, trichiasis), taurodontism, liver disease, gastrointestinal telangiectasias, and avascular necrosis of the hips or shoulders. Although most persons with DC/TBD have normal psychomotor development and normal neurologic function, significant developmental delay is present in both forms; additional findings include cerebellar hypoplasia (Hoyeraal Hreidarsson syndrome) and bilateral exudative retinopathy and intracranial calcifications (Revesz syndrome and Coats plus syndrome). Onset and progression of manifestations of DC/TBD vary: at the mild end of the spectrum are those who have only minimal physical findings with normal bone marrow function, and at the severe end are those who have the diagnostic triad and early-onset BMF.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/462793">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1809587"><div><strong>Waardenburg syndrome, IIa 2F</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1809587</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C5677013</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Waardenburg syndrome type 2F (WS2F) is characterized by congenital or neonatal-onset sensorineural hearing loss and altered pigmentation of the iris, hair, and skin. Variable expressivity has been reported, even among patients with the same mutation (Ogawa et al., 2017; Vona et al., 2022). For a general phenotypic description and discussion of genetic heterogeneity of WS2, as well as a brief description of other clinical variants of Waardenburg syndrome (WS1, 193500; WS3, 148820; and WS4, 277580), see WS2A (193510).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1809587">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_91261" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Branchiooculofacial syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_355712" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Deaf blind hypopigmentation syndrome, Yemenite type</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_462793" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Dyskeratosis congenita, autosomal dominant 2</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_373160" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">PCWH syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_358177" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Piebald trait-neurologic defects syndrome</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (16)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_36361" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Piebaldism</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_376211" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Waardenburg syndrome type 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_349786" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Waardenburg syndrome type 2A</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_373973" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Waardenburg syndrome type 2B</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_398476" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Waardenburg syndrome type 2E</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_86948" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Waardenburg syndrome type 3</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_341244" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Waardenburg syndrome type 4A</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_412961" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Waardenburg syndrome type 4B</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_413310" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Waardenburg syndrome type 4C</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1809587" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Waardenburg syndrome, IIa 2F</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_376362" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">White forelock with malformations</a></div></span></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_105">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/9654197">Correlation between Waardenburg syndrome phenotype and genotype in a population of individuals with identified PAX3 mutations.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">DeStefano AL,
|
||
Cupples LA,
|
||
Arnos KS,
|
||
Asher JH Jr,
|
||
Baldwin CT,
|
||
Blanton S,
|
||
Carey ML,
|
||
da Silva EO,
|
||
Friedman TB,
|
||
Greenberg J,
|
||
Lalwani AK,
|
||
Milunsky A,
|
||
Nance WE,
|
||
Pandya A,
|
||
Ramesar RS,
|
||
Read AP,
|
||
Tassabejhi M,
|
||
Wilcox ER,
|
||
Farrer LA</span><br />
|
||
<span class="medgenPMjournal">Hum Genet</span>
|
||
1998 May;102(5):499-506.
|
||
doi: 10.1007/s004390050732.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9654197" target="_blank">9654197</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/7702105">Waardenburg syndrome type II: phenotypic findings and diagnostic criteria.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Liu XZ,
|
||
Newton VE,
|
||
Read AP</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet</span>
|
||
1995 Jan 2;55(1):95-100.
|
||
doi: 10.1002/ajmg.1320550123.
|
||
<span class="bold">PMID: </span><a href="/pubmed/7702105" target="_blank">7702105</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22white%20forelock%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (2)</a></div></div>
|
||
</div>
|
||
<div class="display-none help-popup" id="guidelinesHelpPM">These guidelines are articles in PubMed that match specific search criteria developed by MedGen to capture the most relevant practice guidelines. This list may not be comprehensive and may include broader topics as well. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div><div class="display-none help-popup" id="guidelinesHelpCurated">These guidelines are manually curated by the MedGen team
|
||
to supplement articles available in PubMed. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div>
|
||
<div class="portlet mgSection" id="ID_103">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_clinical_studies">Recent clinical studies</h1><a sid="103" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">Etiology</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38844942">Deciphering potential causative factors for undiagnosed Waardenburg syndrome through multi-data integration.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sun F,
|
||
Xiao M,
|
||
Ji D,
|
||
Zheng F,
|
||
Shi T</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2024 Jun 6;19(1):226.
|
||
doi: 10.1186/s13023-024-03220-y.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38844942" target="_blank">38844942</a><a href="/pmc/articles/PMC11155130" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26114849">Multimodal Ultrawide-Field Imaging Features in Waardenburg Syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Choudhry N,
|
||
Rao RC</span><br />
|
||
<span class="medgenPMjournal">Ophthalmic Surg Lasers Imaging Retina</span>
|
||
2015 Jun;46(6):670-3.
|
||
doi: 10.3928/23258160-20150610-12.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26114849" target="_blank">26114849</a><a href="/pmc/articles/PMC4532278" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23850259">Poliosis circumscripta: overview and underlying causes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sleiman R,
|
||
Kurban M,
|
||
Succaria F,
|
||
Abbas O</span><br />
|
||
<span class="medgenPMjournal">J Am Acad Dermatol</span>
|
||
2013 Oct;69(4):625-33.
|
||
Epub 2013 Jul 12
|
||
doi: 10.1016/j.jaad.2013.05.022.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23850259" target="_blank">23850259</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11449793">Genetics and molecular biology of deafness. Update.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Grundfast KM,
|
||
Siparsky N,
|
||
Chuong D</span><br />
|
||
<span class="medgenPMjournal">Otolaryngol Clin North Am</span>
|
||
2000 Dec;33(6):1367-94.
|
||
doi: 10.1016/s0030-6665(05)70287-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11449793" target="_blank">11449793</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/2503803">Mental retardation and EEG abnormalities in Waardenburg's syndrome: two case reports (EEG anomalies in Waardenburg's syndrome).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cantani A,
|
||
Bamonte G,
|
||
Tacconi ML</span><br />
|
||
<span class="medgenPMjournal">Padiatr Padol</span>
|
||
1989;24(2):137-40.
|
||
<span class="bold">PMID: </span><a href="/pubmed/2503803" target="_blank">2503803</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22White%20forelock%22%20AND%20Etiology%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (10)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/23121842">Waardenburg syndrome--a case report.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bansal Y,
|
||
Jain P,
|
||
Goyal G,
|
||
Singh M,
|
||
Mishra C</span><br />
|
||
<span class="medgenPMjournal">Cont Lens Anterior Eye</span>
|
||
2013 Feb;36(1):49-51.
|
||
Epub 2012 Oct 31
|
||
doi: 10.1016/j.clae.2012.10.083.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23121842" target="_blank">23121842</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22670867">Piebaldism.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Oiso N,
|
||
Fukai K,
|
||
Kawada A,
|
||
Suzuki T</span><br />
|
||
<span class="medgenPMjournal">J Dermatol</span>
|
||
2013 May;40(5):330-5.
|
||
Epub 2012 Jun 1
|
||
doi: 10.1111/j.1346-8138.2012.01583.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22670867" target="_blank">22670867</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22484741">Glycogen storage disease 1a with piebaldism.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ghoshal B,
|
||
Sarkar N,
|
||
Bhattacharjee M,
|
||
Bhattacharjee R</span><br />
|
||
<span class="medgenPMjournal">Indian Pediatr</span>
|
||
2012 Mar;49(3):235-6.
|
||
doi: 10.1007/s13312-012-0048-y.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22484741" target="_blank">22484741</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21382296">Piebaldism in a 2-year-old girl.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">López V,
|
||
Jordá E</span><br />
|
||
<span class="medgenPMjournal">Dermatol Online J</span>
|
||
2011 Feb 15;17(2):13.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21382296" target="_blank">21382296</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/12061683">Shah Waardenberg syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gupta PR,
|
||
Chowdhary SK,
|
||
Joshi K,
|
||
Shukla R,
|
||
Rao KL</span><br />
|
||
<span class="medgenPMjournal">Indian J Pediatr</span>
|
||
2002 May;69(5):447-9.
|
||
doi: 10.1007/BF02722641.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12061683" target="_blank">12061683</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22White%20forelock%22%20AND%20Diagnosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (34)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/10661905">Myelocystocele-cloacal exstrophy in a pedigree with a mitochondrial 12S rRNA mutation, aminoglycoside-induced deafness, pigmentary disturbances, and spinal anomalies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nye JS,
|
||
Hayes EA,
|
||
Amendola M,
|
||
Vaughn D,
|
||
Charrow J,
|
||
McLone DG,
|
||
Speer MC,
|
||
Nance WE,
|
||
Pandya A</span><br />
|
||
<span class="medgenPMjournal">Teratology</span>
|
||
2000 Mar;61(3):165-71.
|
||
doi: 10.1002/(SICI)1096-9926(200003)61:3<165::AID-TERA3>3.0.CO;2-E.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10661905" target="_blank">10661905</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22White%20forelock%22%20AND%20Therapy%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (1)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38844942">Deciphering potential causative factors for undiagnosed Waardenburg syndrome through multi-data integration.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sun F,
|
||
Xiao M,
|
||
Ji D,
|
||
Zheng F,
|
||
Shi T</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2024 Jun 6;19(1):226.
|
||
doi: 10.1186/s13023-024-03220-y.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38844942" target="_blank">38844942</a><a href="/pmc/articles/PMC11155130" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23850259">Poliosis circumscripta: overview and underlying causes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sleiman R,
|
||
Kurban M,
|
||
Succaria F,
|
||
Abbas O</span><br />
|
||
<span class="medgenPMjournal">J Am Acad Dermatol</span>
|
||
2013 Oct;69(4):625-33.
|
||
Epub 2013 Jul 12
|
||
doi: 10.1016/j.jaad.2013.05.022.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23850259" target="_blank">23850259</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16826074">Cochlear implants in Waardenburg syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cullen RD,
|
||
Zdanski C,
|
||
Roush P,
|
||
Brown C,
|
||
Teagle H,
|
||
Pillsbury HC 3rd,
|
||
Buchman C</span><br />
|
||
<span class="medgenPMjournal">Laryngoscope</span>
|
||
2006 Jul;116(7):1273-5.
|
||
doi: 10.1097/01.mlg.0000221959.67801.9b.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16826074" target="_blank">16826074</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/1303193">A frameshift mutation in the HuP2 paired domain of the probable human homolog of murine Pax-3 is responsible for Waardenburg syndrome type 1 in an Indonesian family.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Morell R,
|
||
Friedman TB,
|
||
Moeljopawiro S,
|
||
Hartono,
|
||
Soewito,
|
||
Asher JH Jr</span><br />
|
||
<span class="medgenPMjournal">Hum Mol Genet</span>
|
||
1992 Jul;1(4):243-7.
|
||
doi: 10.1093/hmg/1.4.243.
|
||
<span class="bold">PMID: </span><a href="/pubmed/1303193" target="_blank">1303193</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/2503803">Mental retardation and EEG abnormalities in Waardenburg's syndrome: two case reports (EEG anomalies in Waardenburg's syndrome).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cantani A,
|
||
Bamonte G,
|
||
Tacconi ML</span><br />
|
||
<span class="medgenPMjournal">Padiatr Padol</span>
|
||
1989;24(2):137-40.
|
||
<span class="bold">PMID: </span><a href="/pubmed/2503803" target="_blank">2503803</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22White%20forelock%22%20AND%20Prognosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (7)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38844942">Deciphering potential causative factors for undiagnosed Waardenburg syndrome through multi-data integration.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sun F,
|
||
Xiao M,
|
||
Ji D,
|
||
Zheng F,
|
||
Shi T</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2024 Jun 6;19(1):226.
|
||
doi: 10.1186/s13023-024-03220-y.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38844942" target="_blank">38844942</a><a href="/pmc/articles/PMC11155130" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24351514">Anisometropic amblyopia in a case of type 2 Waardenburg syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Akal A,
|
||
Göncü T,
|
||
Boyaci N,
|
||
Yılmaz ÖF</span><br />
|
||
<span class="medgenPMjournal">BMJ Case Rep</span>
|
||
2013 Dec 18;2013
|
||
doi: 10.1136/bcr-2013-201140.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24351514" target="_blank">24351514</a><a href="/pmc/articles/PMC3888530" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8129415">The molecular genetics of albinism and piebaldism.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tomita Y</span><br />
|
||
<span class="medgenPMjournal">Arch Dermatol</span>
|
||
1994 Mar;130(3):355-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8129415" target="_blank">8129415</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/1303193">A frameshift mutation in the HuP2 paired domain of the probable human homolog of murine Pax-3 is responsible for Waardenburg syndrome type 1 in an Indonesian family.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Morell R,
|
||
Friedman TB,
|
||
Moeljopawiro S,
|
||
Hartono,
|
||
Soewito,
|
||
Asher JH Jr</span><br />
|
||
<span class="medgenPMjournal">Hum Mol Genet</span>
|
||
1992 Jul;1(4):243-7.
|
||
doi: 10.1093/hmg/1.4.243.
|
||
<span class="bold">PMID: </span><a href="/pubmed/1303193" target="_blank">1303193</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/666627">Heterogeneity in Waardenburg's syndrome. Report of a family with ocular albinism.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bard LA</span><br />
|
||
<span class="medgenPMjournal">Arch Ophthalmol</span>
|
||
1978 Jul;96(7):1193-8.
|
||
doi: 10.1001/archopht.1978.03910060027006.
|
||
<span class="bold">PMID: </span><a href="/pubmed/666627" target="_blank">666627</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22White%20forelock%22%20AND%20Clinical%20prediction%20guides%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (10)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
<div id="messagearea_bottom">
|
||
|
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</div>
|
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<div class=" bottom">
|
||
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</div>
|
||
|
||
</div>
|
||
</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
<div>
|
||
|
||
<!-- MedGen supplemental column starts here -->
|
||
<div class="rightCol mgCol">
|
||
<div class="portlet mgSection" id="ID_113">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul id="my-toc"></ul></div>
|
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