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<!--
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UID=377097
|
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ConceptID=C1851722
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Overgrowth of external genitalia</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>377097</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.">C1851722</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>HPO:</td>
|
||
<td><a target="_blank" title="Human Phenotype Ontology" href="https://hpo.jax.org/app/browse/term/HP:0003247">HP:0003247</a></td></tr>
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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="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline">Overgrowth of external genitalia</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/1254" ref="tree=MeSH" title="MedGen record for Fetal anomaly">Fetal anomaly</a></span><ul><li><span class="TLline"><a href="/medgen/474891" ref="tree=MeSH" title="MedGen record for Congenital Systemic Disorder">Congenital Systemic Disorder</a></span><ul><li><span class="TLline"><a href="/medgen/52948" ref="tree=MeSH" title="MedGen record for Abnormality of the genitourinary system">Abnormality of the genitourinary system</a></span><ul><li><span class="TLline"><a href="/medgen/155422" ref="tree=MeSH" title="MedGen record for Abnormality of the genital system">Abnormality of the genital system</a></span><ul><li><span class="TLline"><a href="/medgen/866746" ref="tree=MeSH" title="MedGen record for Abnormal reproductive system morphology">Abnormal reproductive system morphology</a></span><ul><li><span class="TLline"><a href="/medgen/871335" ref="tree=MeSH" title="MedGen record for Abnormal external genitalia morphology">Abnormal external genitalia morphology</a></span><ul><li><span class="matched_ds">Overgrowth of external genitalia</span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
|
||
</div>
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||
|
||
<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_2562"><div><strong>Beckwith-Wiedemann syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>2562</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.">C0004903</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Beckwith-Wiedemann syndrome (BWS) is a growth disorder variably characterized by macroglossia, hemihyperplasia, omphalocele, neonatal hypoglycemia, macrosomia, embryonal tumors (e.g., Wilms tumor, hepatoblastoma, neuroblastoma, and rhabdomyosarcoma), visceromegaly, adrenocortical cytomegaly, kidney abnormalities (e.g., medullary dysplasia, nephrocalcinosis, and medullary sponge kidney), and ear creases / posterior helical ear pits. BWS is considered a clinical spectrum, in which affected individuals may have many or only one or two of the characteristic clinical features. Although most individuals with BWS show rapid growth in late fetal development and early childhood, growth rate usually slows by age seven to eight years. Adult heights are typically within the normal range. Hemihyperplasia (also known as lateralized overgrowth) is often appreciated at birth and may become more or less evident over time. Hemihyperplasia may affect segmental regions of the body or selected organs and tissues. Hemihyperplasia may be limited to one side of the body (ipsilateral) or involve opposite sides of the body (contralateral). Macroglossia is generally present at birth and can obstruct breathing or interfere with feeding in infants. Neonatal hypoglycemia occurs in approximately 50% of infants with BWS; most episodes are mild and transient. However, in some cases, persistent hypoglycemia due to hyperinsulinism may require consultation with an endocrinologist for therapeutic intervention. With respect to the increased risk for embryonal tumor development, the risk for Wilms tumor appears to be concentrated in the first seven years of life, whereas the risk for developing hepatoblastoma is concentrated in the first three to four years of life. Cognitive and neurobehavioral development is usually normal. After childhood, prognosis is generally favorable, although some adults experience issues requiring medical management (e.g., for renal or skeletal concerns).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/2562">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_2562" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Beckwith-Wiedemann syndrome</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/39276531">Vulvovaginal candidiasis, an increasing burden to women in the tropical regions attending Bharatpur Hospital, Chitwan.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Subedi A,
|
||
Upreti MK,
|
||
Rana JC,
|
||
Sapkota RP,
|
||
Thapa Shrestha U</span><br />
|
||
<span class="medgenPMjournal">J Mycol Med</span>
|
||
2024 Dec;34(4):101509.
|
||
Epub 2024 Sep 3
|
||
doi: 10.1016/j.mycmed.2024.101509.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39276531" target="_blank">39276531</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31178538">Effects of pre- and post-pubertal dihydrotestosterone treatment on penile length in 5α-reductase type 2 deficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sasaki G,
|
||
Ishii T,
|
||
Hori N,
|
||
Amano N,
|
||
Homma K,
|
||
Sato S,
|
||
Hasegawa T</span><br />
|
||
<span class="medgenPMjournal">Endocr J</span>
|
||
2019 Sep 28;66(9):837-842.
|
||
Epub 2019 Jun 8
|
||
doi: 10.1507/endocrj.EJ19-0111.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31178538" target="_blank">31178538</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16867004">Segmental haemangioma of infancy of the lower limb with skeletal overgrowth.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Opie JM,
|
||
Chow CW,
|
||
Ditchfield M,
|
||
Bekhor PS</span><br />
|
||
<span class="medgenPMjournal">Australas J Dermatol</span>
|
||
2006 Aug;47(3):198-203.
|
||
doi: 10.1111/j.1440-0960.2006.00273.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16867004" target="_blank">16867004</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/7554352">Clinical overlap of Beckwith-Wiedemann, Perlman and Simpson-Golabi-Behmel syndromes: a diagnostic pitfall.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Verloes A,
|
||
Massart B,
|
||
Dehalleux I,
|
||
Langhendries JP,
|
||
Koulischer L</span><br />
|
||
<span class="medgenPMjournal">Clin Genet</span>
|
||
1995 May;47(5):257-62.
|
||
doi: 10.1111/j.1399-0004.1995.tb04307.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/7554352" target="_blank">7554352</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Overgrowth%20of%20external%20genitalia%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 (4)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/32014856">Clinical report: one year of treatment of Proteus syndrome with miransertib (ARQ 092).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Biesecker LG,
|
||
Edwards M,
|
||
O'Donnell S,
|
||
Doherty P,
|
||
MacDougall T,
|
||
Tith K,
|
||
Kazakin J,
|
||
Schwartz B</span><br />
|
||
<span class="medgenPMjournal">Cold Spring Harb Mol Case Stud</span>
|
||
2020 Feb;6(1)
|
||
Epub 2020 Feb 3
|
||
doi: 10.1101/mcs.a004549.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32014856" target="_blank">32014856</a><a href="/pmc/articles/PMC6996520" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30667571">Simpson-Golabi-Behmel syndrome with 46,XY disorders of sex development: A case report.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fu Q,
|
||
Wang H,
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||
Qi Z,
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||
Zhang Y</span><br />
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<span class="medgenPMjournal">Am J Med Genet A</span>
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2019 Feb;179(2):285-289.
|
||
Epub 2019 Jan 22
|
||
doi: 10.1002/ajmg.a.40669.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30667571" target="_blank">30667571</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28198008">Vulvar infections: beyond sexually transmitted infections.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cymerman RM,
|
||
Kaplan Hoffmann R,
|
||
Rouhani Schaffer P,
|
||
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<span class="medgenPMjournal">Int J Dermatol</span>
|
||
2017 Apr;56(4):361-369.
|
||
Epub 2017 Feb 15
|
||
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|
||
<span class="bold">PMID: </span><a href="/pubmed/28198008" target="_blank">28198008</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/7726231">Clitoromegaly in neurofibromatosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sutphen R,
|
||
Galán-Goméz E,
|
||
Kousseff BG</span><br />
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||
<span class="medgenPMjournal">Am J Med Genet</span>
|
||
1995 Jan 30;55(3):325-30.
|
||
doi: 10.1002/ajmg.1320550316.
|
||
<span class="bold">PMID: </span><a href="/pubmed/7726231" target="_blank">7726231</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/6340892">Vaginal infection.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Eschenbach DA</span><br />
|
||
<span class="medgenPMjournal">Clin Obstet Gynecol</span>
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||
1983 Mar;26(1):186-202.
|
||
doi: 10.1097/00003081-198303000-00023.
|
||
<span class="bold">PMID: </span><a href="/pubmed/6340892" target="_blank">6340892</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Overgrowth%20of%20external%20genitalia%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 (9)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39276531">Vulvovaginal candidiasis, an increasing burden to women in the tropical regions attending Bharatpur Hospital, Chitwan.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Subedi A,
|
||
Upreti MK,
|
||
Rana JC,
|
||
Sapkota RP,
|
||
Thapa Shrestha U</span><br />
|
||
<span class="medgenPMjournal">J Mycol Med</span>
|
||
2024 Dec;34(4):101509.
|
||
Epub 2024 Sep 3
|
||
doi: 10.1016/j.mycmed.2024.101509.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39276531" target="_blank">39276531</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32014856">Clinical report: one year of treatment of Proteus syndrome with miransertib (ARQ 092).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Biesecker LG,
|
||
Edwards M,
|
||
O'Donnell S,
|
||
Doherty P,
|
||
MacDougall T,
|
||
Tith K,
|
||
Kazakin J,
|
||
Schwartz B</span><br />
|
||
<span class="medgenPMjournal">Cold Spring Harb Mol Case Stud</span>
|
||
2020 Feb;6(1)
|
||
Epub 2020 Feb 3
|
||
doi: 10.1101/mcs.a004549.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32014856" target="_blank">32014856</a><a href="/pmc/articles/PMC6996520" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31330249">Alpelisib Treatment for Genital Vascular Malformation in a Patient with Congenital Lipomatous Overgrowth, Vascular Malformations, Epidermal Nevi, and Spinal/Skeletal Anomalies and/or Scoliosis (CLOVES) Syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">López Gutiérrez JC,
|
||
Lizarraga R,
|
||
Delgado C,
|
||
Martínez Urrutia MJ,
|
||
Díaz M,
|
||
Miguel M,
|
||
Triana P</span><br />
|
||
<span class="medgenPMjournal">J Pediatr Adolesc Gynecol</span>
|
||
2019 Dec;32(6):648-650.
|
||
Epub 2019 Jul 19
|
||
doi: 10.1016/j.jpag.2019.07.003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31330249" target="_blank">31330249</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31178538">Effects of pre- and post-pubertal dihydrotestosterone treatment on penile length in 5α-reductase type 2 deficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sasaki G,
|
||
Ishii T,
|
||
Hori N,
|
||
Amano N,
|
||
Homma K,
|
||
Sato S,
|
||
Hasegawa T</span><br />
|
||
<span class="medgenPMjournal">Endocr J</span>
|
||
2019 Sep 28;66(9):837-842.
|
||
Epub 2019 Jun 8
|
||
doi: 10.1507/endocrj.EJ19-0111.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31178538" target="_blank">31178538</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/6340892">Vaginal infection.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Eschenbach DA</span><br />
|
||
<span class="medgenPMjournal">Clin Obstet Gynecol</span>
|
||
1983 Mar;26(1):186-202.
|
||
doi: 10.1097/00003081-198303000-00023.
|
||
<span class="bold">PMID: </span><a href="/pubmed/6340892" target="_blank">6340892</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Overgrowth%20of%20external%20genitalia%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 (5)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/31178538">Effects of pre- and post-pubertal dihydrotestosterone treatment on penile length in 5α-reductase type 2 deficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sasaki G,
|
||
Ishii T,
|
||
Hori N,
|
||
Amano N,
|
||
Homma K,
|
||
Sato S,
|
||
Hasegawa T</span><br />
|
||
<span class="medgenPMjournal">Endocr J</span>
|
||
2019 Sep 28;66(9):837-842.
|
||
Epub 2019 Jun 8
|
||
doi: 10.1507/endocrj.EJ19-0111.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31178538" target="_blank">31178538</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16867004">Segmental haemangioma of infancy of the lower limb with skeletal overgrowth.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Opie JM,
|
||
Chow CW,
|
||
Ditchfield M,
|
||
Bekhor PS</span><br />
|
||
<span class="medgenPMjournal">Australas J Dermatol</span>
|
||
2006 Aug;47(3):198-203.
|
||
doi: 10.1111/j.1440-0960.2006.00273.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16867004" target="_blank">16867004</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Overgrowth%20of%20external%20genitalia%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 (2)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39276531">Vulvovaginal candidiasis, an increasing burden to women in the tropical regions attending Bharatpur Hospital, Chitwan.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Subedi A,
|
||
Upreti MK,
|
||
Rana JC,
|
||
Sapkota RP,
|
||
Thapa Shrestha U</span><br />
|
||
<span class="medgenPMjournal">J Mycol Med</span>
|
||
2024 Dec;34(4):101509.
|
||
Epub 2024 Sep 3
|
||
doi: 10.1016/j.mycmed.2024.101509.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39276531" target="_blank">39276531</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/6340892">Vaginal infection.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Eschenbach DA</span><br />
|
||
<span class="medgenPMjournal">Clin Obstet Gynecol</span>
|
||
1983 Mar;26(1):186-202.
|
||
doi: 10.1097/00003081-198303000-00023.
|
||
<span class="bold">PMID: </span><a href="/pubmed/6340892" target="_blank">6340892</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Overgrowth%20of%20external%20genitalia%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 (2)</a></div></div>
|
||
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|
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