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<!--
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UID=66363
|
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ConceptID=C0221182
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Chordee</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>66363</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.">C0221182</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>Chordee of penis; Gryposis penis</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Chordee of penis (4287008); Chordee (4287008); Gryposis penis (4287008)</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:0000041">HP:0000041</a></td></tr>
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</tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
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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>
|
||
<div class="portlet_content ln">Ventral (i.e., downward), lateral, or ventrolateral curvature of the shaft and glans penis of more than 30 degrees. [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="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">Chordee</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><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/869392" ref="tree=MeSH" title="MedGen record for Abnormality of the male genitalia">Abnormality of the male genitalia</a></span><ul><li><span class="TLline"><a href="/medgen/871399" ref="tree=MeSH" title="MedGen record for Abnormal male external genitalia morphology">Abnormal male external genitalia morphology</a></span><ul><li><span class="TLline"><a href="/medgen/871398" ref="tree=MeSH" title="MedGen record for Abnormal penis morphology">Abnormal penis morphology</a></span><ul><li><span class="matched_ds">Chordee</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>
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||
<div class="portlet_content ln clinfeat">
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||
<div class="divPopper rprt" id="rdis_120516"><div><strong>Freeman-Sheldon syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>120516</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.">C0265224</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Freeman-Sheldon syndrome (FSS), or DA2A, is phenotypically similar to DA1. In addition to contractures of the hands and feet, FSS is characterized by oropharyngeal abnormalities, scoliosis, and a distinctive face that includes a very small oral orifice (often only a few millimeters in diameter at birth), puckered lips, and an H-shaped dimple of the chin; hence, FSS has been called 'whistling face syndrome.' The limb phenotypes of DA1 and FSS may be so similar that they can only be distinguished by the differences in facial morphology (summary by Bamshad et al., 2009). For a general phenotypic description and a discussion of genetic heterogeneity of distal arthrogryposis, see DA1 (108120).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/120516">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_98483"><div><strong>Lenz-Majewski hyperostosis syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>98483</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.">C0432269</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Lenz-Majewski hyperostotic dwarfism is a rare condition characterized by intellectual disability, sclerosing bone dysplasia, distinct craniofacial and dental anomalies, loose skin, and distal limb anomalies, particularly brachydactyly and symphalangism. Patients have multiple radiographic abnormalities due to progressive generalized hyperostosis that affects the cranium, vertebrae, and diaphyses of tubular bones, leading to severe growth retardation (summary by Sousa et al., 2014).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/98483">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_96592"><div><strong>Osteoglophonic dysplasia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>96592</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.">C0432283</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Osteoglophonic dysplasia (OGD) is characterized by multisuture craniosynostosis (including cloverleaf skull), distinctive craniofacial features (prominent forehead, proptosis, widely spaced eyes, low-set ears, midface retrusion, short nose, anteverted nares, prognathism, high palate, failure of tooth eruption, and gingival overgrowth), profound short stature with rhizomelia, and short, broad hands and feet. Radiographs show copper beaten appearance to skull, multiple cystic long bone lesions consistent with non-ossifying fibromas, irregular vertebral bodies, and osteopenia with increased risk of fractures.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/96592">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_163210"><div><strong>Linear skin defects with multiple congenital anomalies 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>163210</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.">C0796070</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Microphthalmia with linear skin defects (MLS) syndrome is characterized by unilateral or bilateral microphthalmia and/or anophthalmia and linear skin defects, usually involving the face and neck, which are present at birth and heal with age, leaving minimal residual scarring. Other findings can include a wide variety of other ocular abnormalities (e.g., corneal anomalies, orbital cysts, cataracts), central nervous system involvement (e.g., structural anomalies, developmental delay, infantile seizures), cardiac concerns (e.g., hypertrophic or oncocytic cardiomyopathy, atrial or ventricular septal defects, arrhythmias), short stature, diaphragmatic hernia, nail dystrophy, hearing impairment, and genitourinary malformations. Inter- and intrafamilial variability is described.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/163210">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_224702"><div><strong>Progeroid short stature with pigmented nevi</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>224702</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.">C1261128</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Mulvihill-Smith syndrome is characterized by premature aging, multiple pigmented nevi, lack of facial subcutaneous fat, microcephaly, short stature, sensorineural hearing loss, and mental retardation. Immunodeficiency may also be a feature. Adult manifestations include the development of tumors, a sleep disorder with severe insomnia, and cognitive decline (summary by Yagihashi et al., 2009).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/224702">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_331103"><div><strong>Hand-foot-genital syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>331103</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:">C1841679</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hand-foot-genital syndrome (HFGS) is characterized by limb malformations and urogenital defects. Mild-to-severe bilateral shortening of the thumbs and great toes, caused primarily by shortening of the distal phalanx and/or the first metacarpal or metatarsal, is the most common limb malformation and results in impaired dexterity or apposition of the thumbs. Urogenital malformations include abnormalities of the ureters and urethra and various degrees of incomplete müllerian fusion in females, and hypospadias of variable severity with or without chordee in males. Vesicoureteral reflux, recurrent urinary tract infections, and chronic pyelonephritis may occur; fertility is normal.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/331103">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_375620"><div><strong>Deafness-intellectual disability, Martin-Probst type syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>375620</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.">C1845285</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Martin-Probst syndrome (MRXSMP) is characterized by congenital sensorineural hearing loss, mild to severe cognitive impairment, short stature, and facial dysmorphism, including telecanthus, hypertelorism, epicanthic folds, broad mouth, and low-set ears. Variable features include renal and genitourinary abnormalities and late-onset pancytopenia (Martin et al., 2000).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/375620">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_422453"><div><strong>Bardet-Biedl syndrome 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>422453</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.">C2936863</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">BBS2 is an autosomal recessive ciliopathy characterized by retinal degeneration, polydactyly, renal disease, hypogonadism, obesity, dysmorphic features, and variable degrees of cognitive impairment (Innes et al., 2010). Mutation in the BBS2 gene is the third most frequent cause of BBS, accounting for approximately 8% of cases (Zaghloul and Katsanis, 2009). For a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (209900).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/422453">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_461449"><div><strong>Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>461449</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.">C3150099</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Cytochrome P450 oxidoreductase deficiency (PORD) is a disorder of steroidogenesis with a broad phenotypic spectrum including cortisol deficiency, altered sex steroid synthesis, disorders of sex development (DSD), and skeletal malformations of the Antley-Bixler syndrome (ABS) phenotype. Cortisol deficiency is usually partial, with some baseline cortisol production but failure to mount an adequate cortisol response in stress. Mild mineralocorticoid excess can be present and causes arterial hypertension, usually presenting in young adulthood. Manifestations of altered sex steroid synthesis include ambiguous genitalia/DSD in both males and females, large ovarian cysts in females, poor masculinization and delayed puberty in males, and maternal virilization during pregnancy with an affected fetus. Skeletal malformations can manifest as craniosynostosis, mid-face retrusion with proptosis and choanal stenosis or atresia, low-set dysplastic ears with stenotic external auditory canals, hydrocephalus, radiohumeral synostosis, neonatal fractures, congenital bowing of the long bones, joint contractures, arachnodactyly, and clubfeet; other anomalies observed include urinary tract anomalies (renal pelvic dilatation, vesicoureteral reflux). Cognitive impairment is of minor concern and likely associated with the severity of malformations; studies of developmental outcomes are lacking.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/461449">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_462414"><div><strong>46,XY sex reversal 6</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>462414</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.">C3151064</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/462414">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_895943"><div><strong>Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>895943</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.">C4225229</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome is a rare, genetic multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay, axial hypotonia, palate abnormalities (including cleft palate and/or high and narrow palate), dysmorphic facial features (including prominent forehead, hypertelorism, downslanting palpebral fissures, wide nasal bridge, thin lips and widely spaced teeth), and short stature. Additional manifestations may include digital anomalies (such as brachydactyly, clinodactyly, and hypoplastic toenails), a single palmar crease, lower limb hypertonia, joint hypermobility, as well as ocular and urogenital anomalies.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/895943">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_934739"><div><strong>Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>934739</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.">C4310772</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">RERE-related disorders are characterized by neurodevelopmental problems with or without structural anomalies of the eyes, heart, kidneys, and genitourinary tract and mild sensorineural hearing loss. Hypotonia and feeding problems are common among affected individuals. Developmental delay and intellectual disability range from mild to profound. Behavior problems may include attention-deficit/hyperactivity disorder, self-injurious behavior, and autism spectrum disorder. A variety of eye anomalies (coloboma, optic nerve anomalies, microphthalmia, and/or Peter's anomaly) and vision issues (myopia, anisometropia, astigmatism, exotropia, esotropia) have been reported. Congenital heart defects, most commonly septal defects, have also been described. Genitourinary abnormalities include vesicoureteral reflux, and cryptorchidism and hypospadias in males. Sensorineural hearing loss can be unilateral or bilateral.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/934739">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1375936"><div><strong>Stankiewicz-Isidor syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1375936</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.">C4479599</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Stankiewicz-Isidor syndrome (STISS) is a neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability, behavioral disorders, mild craniofacial anomalies, and variable congenital defects of the cardiac and/or urogenital systems (summary by Kury et al., 2017).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1375936">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1720440"><div><strong>Genitourinary and/or brain malformation syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1720440</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.">C5394158</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Individuals with PPP1R12A-related urogenital and/or brain malformation syndrome (UBMS) usually present with multiple congenital anomalies, most commonly involving the brain and/or urogenital systems. The brain abnormalities are variable, with the most severe belonging to the holoprosencephaly spectrum and associated with moderate-to-profound intellectual disability, seizures, and feeding difficulties. In individuals without brain involvement, variable degrees of developmental delay and/or intellectual disability may be present, although normal intelligence has been seen in a minority of affected individuals. Eye (strabismus, microphthalmia/anophthalmia) and skeletal abnormalities (kyphoscoliosis, joint contractures) can also be present in affected individuals of either sex. Regardless of the presence of a brain malformation, affected individuals with a 46,XY chromosome complement may have a difference of sex development (DSD) with gonadal dysgenesis associated with ambiguous genitalia or phenotypic female genitalia.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1720440">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1718781"><div><strong>Microcephaly, developmental delay, and brittle hair syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1718781</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.">C5394425</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Microcephaly, developmental delay, and brittle hair syndrome (MDBH) is a multisystem disorder with clinical variability. Affected individuals show cognitive and motor disabilities, as well as some degree of fine, brittle hair with microscopic shaft abnormalities. Other shared features include failure to thrive in early childhood and short stature, with some patients exhibiting feeding difficulties and hepatic steatosis (Kuo et al., 2019).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1718781">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1794177"><div><strong>DEGCAGS syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1794177</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.">C5561967</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">DEGCAGS syndrome is an autosomal recessive syndromic neurodevelopmental disorder characterized by global developmental delay, coarse and dysmorphic facial features, and poor growth and feeding apparent from infancy. Affected individuals have variable systemic manifestations often with significant structural defects of the cardiovascular, genitourinary, gastrointestinal, and/or skeletal systems. Additional features may include sensorineural hearing loss, hypotonia, anemia or pancytopenia, and immunodeficiency with recurrent infections. Death in childhood may occur (summary by Bertoli-Avella et al., 2021).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1794177">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1794194"><div><strong>Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1794194</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.">C5561984</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities (NECRC) is an autosomal dominant disorder characterized by dysmorphic craniofacial features associated with mild developmental delay, mildly impaired intellectual development or learning difficulties, speech delay, and behavioral abnormalities. About half of patients have congenital anomalies of the kidney and urinary tract (CAKUT) and/or congenital cardiac defects, including septal defects (Connaughton et al., 2020).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1794194">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1803276"><div><strong>Chilton-Okur-Chung neurodevelopmental syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1803276</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.">C5677022</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Chilton-Okur-Chung neurodevelopmental syndrome (CHOCNS) is characterized mainly by global developmental delay with variably impaired intellectual development and occasional speech delay. Most patients have behavioral abnormalities, including autism spectrum disorder, ADHD, and aggression. About half of patients have dysmorphic facial features, and about half have nonspecific brain abnormalities, including thin corpus callosum. Rare involvement of other organ systems may be present. At least 1 child with normal development at age 2.5 years has been reported (Chilton et al., 2020).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1803276">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1841290"><div><strong>Neurodevelopmental disorder with hypotonia and speech delay, with or without seizures</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1841290</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.">C5830654</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Neurodevelopmental disorder with hypotonia and speech delay, with or without seizures (NEDHSS) is characterized by global developmental delay, impaired intellectual development with poor or absent speech, and fine and gross motor delay. Most affected individuals are severely affected and may be unable to walk, have feeding difficulties requiring tube-feeding, and develop early-onset seizures. Additional features may include cortical blindness and nonspecific structural brain abnormalities. Rare individuals present only with hypotonia and mild developmental delay (Paul et al., 2023).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1841290">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_462414" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">46,XY sex reversal 6</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_461449" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_422453" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Bardet-Biedl syndrome 2</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1803276" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Chilton-Okur-Chung neurodevelopmental syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_375620" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Deafness-intellectual disability, Martin-Probst type syndrome</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (19)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1794177" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">DEGCAGS syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_120516" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Freeman-Sheldon syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1720440" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Genitourinary and/or brain malformation syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_331103" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hand-foot-genital syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_98483" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Lenz-Majewski hyperostosis syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_163210" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Linear skin defects with multiple congenital anomalies 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1718781" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Microcephaly, developmental delay, and brittle hair syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1841290" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neurodevelopmental disorder with hypotonia and speech delay, with or without seizures</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_934739" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1794194" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_96592" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Osteoglophonic dysplasia</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_895943" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_224702" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Progeroid short stature with pigmented nevi</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1375936" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Stankiewicz-Isidor syndrome</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/31209286">Prenatal diagnosis of hypospadias with 2-dimensional and 3-dimensional ultrasonography.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Li X,
|
||
Liu A,
|
||
Zhang Z,
|
||
An X,
|
||
Wang S</span><br />
|
||
<span class="medgenPMjournal">Sci Rep</span>
|
||
2019 Jun 17;9(1):8662.
|
||
doi: 10.1038/s41598-019-45221-z.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31209286" target="_blank">31209286</a><a href="/pmc/articles/PMC6572849" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21453851">Diagnosis and management of epispadias.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Frimberger D</span><br />
|
||
<span class="medgenPMjournal">Semin Pediatr Surg</span>
|
||
2011 May;20(2):85-90.
|
||
doi: 10.1053/j.sempedsurg.2011.01.003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21453851" target="_blank">21453851</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11025744">Re: Preoperative treatment with human chorionic gonadotropin in infancy decreases the severity of proximal hypospadias and chordee.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Snodgrass W</span><br />
|
||
<span class="medgenPMjournal">J Urol</span>
|
||
2000 Nov;164(5):1668-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11025744" target="_blank">11025744</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22chordee%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 (12)</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/31974021">Recurrent chordee in 59 adolescents and young adults following childhood hypospadias repair.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Abosena W,
|
||
Talab SS,
|
||
Hanna MK</span><br />
|
||
<span class="medgenPMjournal">J Pediatr Urol</span>
|
||
2020 Apr;16(2):162.e1-162.e5.
|
||
Epub 2019 Dec 2
|
||
doi: 10.1016/j.jpurol.2019.11.013.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31974021" target="_blank">31974021</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21399858">Penile anomalies in adolescence.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wood D,
|
||
Woodhouse C</span><br />
|
||
<span class="medgenPMjournal">ScientificWorldJournal</span>
|
||
2011 Mar 7;11:614-23.
|
||
doi: 10.1100/tsw.2011.38.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21399858" target="_blank">21399858</a><a href="/pmc/articles/PMC5720022" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10663868">Congenital urethral fistula.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sharma AK,
|
||
Kothari SK,
|
||
Goel D,
|
||
Chaturvedi V</span><br />
|
||
<span class="medgenPMjournal">Pediatr Surg Int</span>
|
||
2000;16(1-2):142-3.
|
||
doi: 10.1007/s003830050046.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10663868" target="_blank">10663868</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8773226">Posterior hypospadias: the French operation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Monfort G,
|
||
Di Benedetto V,
|
||
Meyrat BJ</span><br />
|
||
<span class="medgenPMjournal">Eur J Pediatr Surg</span>
|
||
1995 Dec;5(6):352-4.
|
||
doi: 10.1055/s-2008-1066241.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8773226" target="_blank">8773226</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8283559">Cantwell-Ransley epispadias repair in male epispadias and bladder exstrophy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Borzi PA,
|
||
Thomas DF</span><br />
|
||
<span class="medgenPMjournal">J Urol</span>
|
||
1994 Feb;151(2):457-9.
|
||
doi: 10.1016/s0022-5347(17)34989-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8283559" target="_blank">8283559</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Chordee%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 (360)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38259026">Congenital Urethrocutaneous Fistula.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Suman BK,
|
||
Singh RJ,
|
||
Sinha AK,
|
||
Kumar B</span><br />
|
||
<span class="medgenPMjournal">Afr J Paediatr Surg</span>
|
||
2024 Jan 1;21(1):73-74.
|
||
Epub 2023 Jul 20
|
||
doi: 10.4103/ajps.ajps_97_22.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38259026" target="_blank">38259026</a><a href="/pmc/articles/PMC10903725" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36789804">Urogenital presentation of a male patient with focal dermal hypoplasia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nguyen K,
|
||
Sosa V</span><br />
|
||
<span class="medgenPMjournal">Pediatr Dermatol</span>
|
||
2023 May-Jun;40(3):580-581.
|
||
Epub 2023 Feb 15
|
||
doi: 10.1111/pde.15256.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36789804" target="_blank">36789804</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25236772">Split median raphe: case series and brief literature review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Valerio E,
|
||
Cutrone M</span><br />
|
||
<span class="medgenPMjournal">Pediatr Dermatol</span>
|
||
2014 Nov-Dec;31(6):e136-9.
|
||
Epub 2014 Sep 18
|
||
doi: 10.1111/pde.12417.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25236772" target="_blank">25236772</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20705203">Common penile problems.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wan J,
|
||
Rew KT</span><br />
|
||
<span class="medgenPMjournal">Prim Care</span>
|
||
2010 Sep;37(3):627-42, x.
|
||
doi: 10.1016/j.pop.2010.04.010.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20705203" target="_blank">20705203</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8908584">Prenatal diagnosis of hypospadias.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sides D,
|
||
Goldstein RB,
|
||
Baskin L,
|
||
Kleiner BC</span><br />
|
||
<span class="medgenPMjournal">J Ultrasound Med</span>
|
||
1996 Nov;15(11):741-6.
|
||
doi: 10.7863/jum.1996.15.11.741.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8908584" target="_blank">8908584</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Chordee%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 (110)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39586661">Urethral strictures post-hypospadias repair in adults.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Madec FX,
|
||
Weis S,
|
||
Boillot B,
|
||
Blanc T,
|
||
Morel-Journel N,
|
||
Karsenty G,
|
||
Marcelli F</span><br />
|
||
<span class="medgenPMjournal">Fr J Urol</span>
|
||
2024 Nov;34(11):102715.
|
||
doi: 10.1016/j.fjurol.2024.102715.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39586661" target="_blank">39586661</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36344393">A novel triple dartous fixation in hypospadias repair.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">El Dahshoury ZM,
|
||
Rashed EN,
|
||
Mebead A</span><br />
|
||
<span class="medgenPMjournal">Actas Urol Esp (Engl Ed)</span>
|
||
2023 Jan-Feb;47(1):22-26.
|
||
Epub 2022 Aug 9
|
||
doi: 10.1016/j.acuroe.2022.08.017.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36344393" target="_blank">36344393</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16516617">Hypospadias: anatomy, etiology, and technique.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Baskin LS,
|
||
Ebbers MB</span><br />
|
||
<span class="medgenPMjournal">J Pediatr Surg</span>
|
||
2006 Mar;41(3):463-72.
|
||
doi: 10.1016/j.jpedsurg.2005.11.059.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16516617" target="_blank">16516617</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8709377">One-stage anterior urethroplasty.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">el-Kasaby AW,
|
||
Alla MF,
|
||
Noweir A,
|
||
Mourad S,
|
||
Youssef AH</span><br />
|
||
<span class="medgenPMjournal">J Urol</span>
|
||
1996 Sep;156(3):975-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8709377" target="_blank">8709377</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/3184301">Open catheter drainage after urethral surgery.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Montagnino BA,
|
||
Gonzales ET Jr,
|
||
Roth DR</span><br />
|
||
<span class="medgenPMjournal">J Urol</span>
|
||
1988 Nov;140(5 Pt 2):1250-2.
|
||
doi: 10.1016/s0022-5347(17)42016-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/3184301" target="_blank">3184301</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Chordee%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 (107)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/17187155">Hypospadias: an update.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Leung AK,
|
||
Robson WL</span><br />
|
||
<span class="medgenPMjournal">Asian J Androl</span>
|
||
2007 Jan;9(1):16-22.
|
||
doi: 10.1111/j.1745-7262.2007.00243.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17187155" target="_blank">17187155</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15948735">Isolated congenital urethrocutaneous fistula.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Akman RY,
|
||
Cam K,
|
||
Akyuz O,
|
||
Erol A</span><br />
|
||
<span class="medgenPMjournal">Int J Urol</span>
|
||
2005 Apr;12(4):417-8.
|
||
doi: 10.1111/j.1442-2042.2005.01050.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15948735" target="_blank">15948735</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10663868">Congenital urethral fistula.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sharma AK,
|
||
Kothari SK,
|
||
Goel D,
|
||
Chaturvedi V</span><br />
|
||
<span class="medgenPMjournal">Pediatr Surg Int</span>
|
||
2000;16(1-2):142-3.
|
||
doi: 10.1007/s003830050046.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10663868" target="_blank">10663868</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8773226">Posterior hypospadias: the French operation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Monfort G,
|
||
Di Benedetto V,
|
||
Meyrat BJ</span><br />
|
||
<span class="medgenPMjournal">Eur J Pediatr Surg</span>
|
||
1995 Dec;5(6):352-4.
|
||
doi: 10.1055/s-2008-1066241.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8773226" target="_blank">8773226</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8283559">Cantwell-Ransley epispadias repair in male epispadias and bladder exstrophy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Borzi PA,
|
||
Thomas DF</span><br />
|
||
<span class="medgenPMjournal">J Urol</span>
|
||
1994 Feb;151(2):457-9.
|
||
doi: 10.1016/s0022-5347(17)34989-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8283559" target="_blank">8283559</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Chordee%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 (186)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/33707131">How I do it: Buttonholing the preputial hood in hypospadias repair-related ventral skin shortage.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Spinoit AF,
|
||
Sinatti C,
|
||
Lambert E,
|
||
Pauwaert K,
|
||
Verla W,
|
||
Van Laecke E,
|
||
Hoebeke P</span><br />
|
||
<span class="medgenPMjournal">J Pediatr Urol</span>
|
||
2021 Jun;17(3):332-334.
|
||
Epub 2021 Feb 15
|
||
doi: 10.1016/j.jpurol.2021.02.010.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33707131" target="_blank">33707131</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31638721">Prenatal ultrasound diagnosis of chordee without hypospadias.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Li X,
|
||
Zhou J,
|
||
Zhang X</span><br />
|
||
<span class="medgenPMjournal">J Clin Ultrasound</span>
|
||
2020 Feb;48(2):115-116.
|
||
Epub 2019 Oct 22
|
||
doi: 10.1002/jcu.22783.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31638721" target="_blank">31638721</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28389178">Ultrasound diagnosis of fetal hypospadias: Accuracy and outcomes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Epelboym Y,
|
||
Estrada C,
|
||
Estroff J</span><br />
|
||
<span class="medgenPMjournal">J Pediatr Urol</span>
|
||
2017 Oct;13(5):484.e1-484.e4.
|
||
Epub 2017 Mar 24
|
||
doi: 10.1016/j.jpurol.2017.02.022.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28389178" target="_blank">28389178</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24531672">Recurrent hypospadias surgery.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Barbagli G,
|
||
Sansalone S,
|
||
Djinovic R,
|
||
Lazzeri M</span><br />
|
||
<span class="medgenPMjournal">Arch Esp Urol</span>
|
||
2014 Jan-Feb;67(1):54-60.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24531672" target="_blank">24531672</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21805016">Abnormalities of penile curvature: chordee and penile torsion.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Montag S,
|
||
Palmer LS</span><br />
|
||
<span class="medgenPMjournal">ScientificWorldJournal</span>
|
||
2011 Jul 28;11:1470-8.
|
||
doi: 10.1100/tsw.2011.136.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21805016" target="_blank">21805016</a><a href="/pmc/articles/PMC5720069" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Chordee%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 (96)</a></div></div>
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<div class="nl"><a target="_blank" href="/pubmed/34099397">Meta-analysis comparing the outcomes of single stage (foreskin pedicled tube) versus two stage (foreskin free graft & foreskin pedicled flap) repair for proximal hypospadias in the last decade.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Babu R,
|
||
Chandrasekharam VVS</span><br />
|
||
<span class="medgenPMjournal">J Pediatr Urol</span>
|
||
2021 Oct;17(5):681-689.
|
||
Epub 2021 May 17
|
||
doi: 10.1016/j.jpurol.2021.05.014.
|
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<span class="bold">PMID: </span><a href="/pubmed/34099397" target="_blank">34099397</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/31290465">Congenital anterior urethrocutaneous fistula: A systematic review.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Lin Y,
|
||
Deng C,
|
||
Peng Q</span><br />
|
||
<span class="medgenPMjournal">Afr J Paediatr Surg</span>
|
||
2018 Apr-Jun;15(2):63-68.
|
||
doi: 10.4103/ajps.AJPS_97_17.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31290465" target="_blank">31290465</a><a href="/pmc/articles/PMC6615009" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
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<div class="nl"><a target="_blank" href="/pubmed/23602841">Hormone therapy in hypospadias surgery: a systematic review.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Netto JM,
|
||
Ferrarez CE,
|
||
Schindler Leal AA,
|
||
Tucci S Jr,
|
||
Gomes CA,
|
||
Barroso U Jr</span><br />
|
||
<span class="medgenPMjournal">J Pediatr Urol</span>
|
||
2013 Dec;9(6 Pt B):971-9.
|
||
Epub 2013 Apr 19
|
||
doi: 10.1016/j.jpurol.2013.03.009.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23602841" target="_blank">23602841</a></div>
|
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Chordee%22%20AND%20systematic%5Bsb%5D%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (3)</a></div></div>
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