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<meta name="keywords" content="C1858565, anatomical abnormality, double collecting system, double urinary collecting systems on intravenous pyelography, duplex collecting system, duplicated collecting system, duplicated renal collecting system, finding, autosomal dominant, autosomal recessive, birth defects, chromosomal disease, chromosome, clinical features, clinical findings, clinical genetics, clinical recommendations, clinvar, congenital chromosomal disease, consumer genetic resources, cytogenetic location, disease characteristics, disease definitions, disease descriptions, disease ontology, disease synonyms, disease vocabulary, dysmorphology, entrez, familial disease, gene, gene-disease relationship, genereviews, genetic disease, genetic disorder, genetic terminology, genetic testing registry, genetics home reference, genomic disease, gtr, hereditary disease, heritable disease, hpo, human phenotype ontology, inherited disease, management guidelines, maternal inheritance, medgen, medical genetics, medical subject headings, mesh, mitochondrial inheritance, mode of inheritance, national center for biotechnology information, national institutes of health, national library of medicine, ncbi, nih, nlm, omim, ordo, orphanet, paternal inheritance, phenome, position statements, professional practice guidelines, rare disease, reference sequence, refseq, snomed ct, syndrome, undiagnosed diseases, x-linked recessive" /><meta name="description" content="A duplication of the collecting system of the kidney, defined as a kidney with two (instead of, normally, one) pyelocaliceal systems. The pyelocaliceal system is comprised of the renal pelvis and calices. The duplicated renal collecting system can be associated with a single ureter or with double ureters. In the latter case, the two ureters empty separately into the bladder or fuse to form a single ureteral orifice." /><meta name="robots" content="index,nofollow,noarchive" />
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<title>Duplicated collecting system (Concept Id: C1858565)
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<!--
UID=346936
ConceptID=C1858565
-->
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Duplicated collecting system</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>346936</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)&#10;Click for more information.">C1858565</a></dd><dt><span class="dotprefix"></span></dt><dd>Anatomical Abnormality; Finding</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
<td>Duplicated renal collecting system</td></tr>
<tr><td colspan="2" class="small"> </td></tr><tr><td>HPO:</td>
<td><a target="_blank" title="Human Phenotype Ontology" href="https://hpo.jax.org/app/browse/term/HP:0000081">HP:0000081</a></td></tr>
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<div class="portlet mgSection" id="ID_100">
<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">A duplication of the collecting system of the kidney, defined as a kidney with two (instead of, normally, one) pyelocaliceal systems. The pyelocaliceal system is comprised of the renal pelvis and calices. The duplicated renal collecting system can be associated with a single ureter or with double ureters. In the latter case, the two ureters empty separately into the bladder or fuse to form a single ureteral orifice. [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">
<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>
<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">Duplicated collecting system</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/867444" ref="tree=MeSH" title="MedGen record for Abnormality of the urinary system">Abnormality of the urinary system</a></span><ul><li><span class="TLline"><a href="/medgen/869219" ref="tree=MeSH" title="MedGen record for Abnormality of the upper urinary tract">Abnormality of the upper urinary tract</a></span><ul><li><span class="TLline"><a href="/medgen/78593" ref="tree=MeSH" title="MedGen record for Abnormality of the kidney">Abnormality of the kidney</a></span><ul><li><span class="TLline"><a href="/medgen/1633142" ref="tree=MeSH" title="MedGen record for Abnormal renal morphology">Abnormal renal morphology</a></span><ul><li><span class="TLline"><a href="/medgen/342720" ref="tree=MeSH" title="MedGen record for Abnormal renal collecting system morphology">Abnormal renal collecting system morphology</a></span><ul><li><span class="matched_ds">Duplicated collecting system</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_21778"><div><strong>Ureterocele</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>21778</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)&#10;Click for more information.">C0041960</a></dd><dt><span class="dotprefix"></span></dt><dd>Acquired Abnormality</dd></dl></div></div></div>
<div class="spaceAbove">A ureterocele is a congenital saccular dilatation of the distal segment of the ureter.</div></div>
<div class="divPopper rprt" id="rdis_61231"><div><strong>Smith-Lemli-Opitz syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>61231</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)&#10;Click for more information."><span class="highlight" style="background-color:">C0175694</span></a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Smith-Lemli-Opitz syndrome (SLOS) is a congenital multiple-anomaly / cognitive impairment syndrome caused by an abnormality in cholesterol metabolism resulting from deficiency of the enzyme 7-dehydrocholesterol (7-DHC) reductase. It is characterized by prenatal and postnatal growth restriction, microcephaly, moderate-to-severe intellectual disability, and multiple major and minor malformations. The malformations include distinctive facial features, cleft palate, cardiac defects, underdeveloped external genitalia in males, postaxial polydactyly, and 2-3 syndactyly of the toes. The clinical spectrum is wide; individuals with normal development and only minor malformations have been described.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/61231">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_162897"><div><strong>Kabuki syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>162897</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)&#10;Click for more information.">C0796004</a></dd><dt><span class="dotprefix"></span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
<div class="spaceAbove">Kabuki syndrome (KS) is characterized by typical facial features (long palpebral fissures with eversion of the lateral third of the lower eyelid; arched and broad eyebrows; short columella with depressed nasal tip; large, prominent, or cupped ears), minor skeletal anomalies, persistence of fetal fingertip pads, mild-to-moderate intellectual disability, and postnatal growth deficiency. Other findings may include: congenital heart defects, genitourinary anomalies, cleft lip and/or palate, gastrointestinal anomalies including anal atresia, ptosis and strabismus, and widely spaced teeth and hypodontia. Functional differences can include: increased susceptibility to infections and autoimmune disorders, seizures, endocrinologic abnormalities (including isolated premature thelarche in females), feeding problems, and hearing loss.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/162897">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_371746"><div><strong>Noduli Cutanei, multiple, with urinary tract abnormalities</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>371746</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)&#10;Click for more information.">C1834143</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/371746">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_341214"><div><strong>CHIME syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>341214</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)&#10;Click for more information.">C1848392</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">CHIME syndrome, also known as Zunich neuroectodermal syndrome, is an extremely rare autosomal recessive multisystem disorder clinically characterized by colobomas, congenital heart defects, migratory ichthyosiform dermatosis, mental retardation, and ear anomalies (CHIME). Other clinical features include distinctive facial features, abnormal growth, genitourinary abnormalities, seizures, and feeding difficulties (summary by Ng et al., 2012). The disorder is caused by a defect in glycosylphosphatidylinositol (GPI) biosynthesis.&#13; For a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 (610293).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/341214">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_338020"><div><strong>Exstrophy-epispadias complex</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>338020</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)&#10;Click for more information.">C1850321</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Carey et al. (1978) gave the name OEIS complex to a combination of defects comprising omphalocele, exstrophy of the cloaca, imperforate anus, and spinal defects. This rare complex is thought to represent the most severe end of a spectrum of birth defects, the exstrophy-epispadias sequence, which, in order of increasing severity, includes phallic separation with epispadias, pubic diastasis, exstrophy of the bladder (600057), cloacal exstrophy, and OEIS complex. Very few instances of recurrence of anomalies in this cluster have been reported.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/338020">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_343663"><div><strong>Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>343663</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)&#10;Click for more information.">C1851841</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">An EEC syndrome characterized by autosomal dominant inheritance that has material basis in variation in the chromosome region 7q11.2-q21.3.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/343663">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_347666"><div><strong>Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>347666</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)&#10;Click for more information.">C1858562</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">The TP63-related disorders comprise six overlapping phenotypes: Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome (which includes Rapp-Hodgkin syndrome). Acro-dermo-ungual-lacrimal-tooth (ADULT) syndrome. Ectrodactyly, ectodermal dysplasia, cleft lip/palate syndrome 3 (EEC3). Limb-mammary syndrome. Split-hand/foot malformation type 4 (SHFM4). Isolated cleft lip/cleft palate (orofacial cleft 8). Individuals typically have varying combinations of ectodermal dysplasia (hypohidrosis, nail dysplasia, sparse hair, tooth abnormalities), cleft lip/palate, split-hand/foot malformation/syndactyly, lacrimal duct obstruction, hypopigmentation, hypoplastic breasts and/or nipples, and hypospadias. Findings associated with a single phenotype include ankyloblepharon filiforme adnatum (tissue strands that completely or partially fuse the upper and lower eyelids), skin erosions especially on the scalp associated with areas of scarring, and alopecia, trismus, and excessive freckling.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/347666">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_365434"><div><strong>Alagille syndrome due to a JAG1 point mutation</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>365434</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)&#10;Click for more information.">C1956125</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Alagille syndrome (ALGS) is a multisystem disorder with a wide spectrum of clinical variability; this variability is seen even among individuals from the same family. The major clinical manifestations of ALGS are bile duct paucity on liver biopsy, cholestasis, congenital cardiac defects (primarily involving the pulmonary arteries), butterfly vertebrae, ophthalmologic abnormalities (most commonly posterior embryotoxon), and characteristic facial features. Renal abnormalities, growth failure, behavioral differences, splenomegaly, retinal changes, and vascular abnormalities may also occur.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/365434">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_463627"><div><strong>Fanconi anemia complementation group D2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>463627</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)&#10;Click for more information.">C3160738</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Fanconi anemia (FA) is characterized by physical abnormalities, bone marrow failure, and increased risk for malignancy. Physical abnormalities, present in approximately 75% of affected individuals, include one or more of the following: short stature, abnormal skin pigmentation, skeletal malformations of the upper and/or lower limbs, microcephaly, and ophthalmic and genitourinary tract anomalies. Progressive bone marrow failure with pancytopenia typically presents in the first decade, often initially with thrombocytopenia or leukopenia. The incidence of acute myeloid leukemia is 13% by age 50 years. Solid tumors particularly of the head and neck, skin, and genitourinary tract are more common in individuals with FA.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/463627">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_463628"><div><strong>Fanconi anemia complementation group E</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>463628</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)&#10;Click for more information.">C3160739</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Fanconi anemia (FA) is characterized by physical abnormalities, bone marrow failure, and increased risk for malignancy. Physical abnormalities, present in approximately 75% of affected individuals, include one or more of the following: short stature, abnormal skin pigmentation, skeletal malformations of the upper and/or lower limbs, microcephaly, and ophthalmic and genitourinary tract anomalies. Progressive bone marrow failure with pancytopenia typically presents in the first decade, often initially with thrombocytopenia or leukopenia. The incidence of acute myeloid leukemia is 13% by age 50 years. Solid tumors particularly of the head and neck, skin, and genitourinary tract are more common in individuals with FA.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/463628">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_477139"><div><strong>Multiple congenital anomalies-hypotonia-seizures syndrome 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>477139</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)&#10;Click for more information.">C3275508</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Multiple congenital anomalies-hypotonia-seizures syndrome-2 (MCAHS2) is an X-linked recessive neurodevelopmental disorder characterized by dysmorphic features, neonatal hypotonia, early-onset myoclonic seizures, and variable congenital anomalies involving the central nervous, cardiac, and urinary systems. Some affected individuals die in infancy (summary by Johnston et al., 2012). The phenotype shows clinical variability with regard to severity and extraneurologic features. However, most patients present in infancy with early-onset epileptic encephalopathy associated with developmental arrest and subsequent severe neurologic disability; these features are consistent with a form of developmental and epileptic encephalopathy (DEE) (summary by Belet et al., 2014, Kato et al., 2014). The disorder is caused by a defect in glycosylphosphatidylinositol (GPI) biosynthesis.&#13; For a discussion of genetic heterogeneity of MCAHS, see MCAHS1 (614080).&#13; For a discussion of nomenclature and genetic heterogeneity of DEE, see 308350.&#13; For a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 (610293).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/477139">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_483324"><div><strong>Fanconi anemia complementation group C</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>483324</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)&#10;Click for more information.">C3468041</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Fanconi anemia (FA) is characterized by physical abnormalities, bone marrow failure, and increased risk for malignancy. Physical abnormalities, present in approximately 75% of affected individuals, include one or more of the following: short stature, abnormal skin pigmentation, skeletal malformations of the upper and/or lower limbs, microcephaly, and ophthalmic and genitourinary tract anomalies. Progressive bone marrow failure with pancytopenia typically presents in the first decade, often initially with thrombocytopenia or leukopenia. The incidence of acute myeloid leukemia is 13% by age 50 years. Solid tumors particularly of the head and neck, skin, and genitourinary tract are more common in individuals with FA.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/483324">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_483333"><div><strong>Fanconi anemia complementation group A</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>483333</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)&#10;Click for more information.">C3469521</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Fanconi anemia (FA) is characterized by physical abnormalities, bone marrow failure, and increased risk for malignancy. Physical abnormalities, present in approximately 75% of affected individuals, include one or more of the following: short stature, abnormal skin pigmentation, skeletal malformations of the upper and/or lower limbs, microcephaly, and ophthalmic and genitourinary tract anomalies. Progressive bone marrow failure with pancytopenia typically presents in the first decade, often initially with thrombocytopenia or leukopenia. The incidence of acute myeloid leukemia is 13% by age 50 years. Solid tumors particularly of the head and neck, skin, and genitourinary tract are more common in individuals with FA.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/483333">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_863268"><div><strong>Vesicoureteral reflux 8</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>863268</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)&#10;Click for more information.">C4014831</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Any vesicoureteral reflux in which the cause of the disease is a mutation in the TNXB gene.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/863268">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_897984"><div><strong>Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>897984</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)&#10;Click for more information.">C4225351</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">White-Sutton syndrome is a neurodevelopmental disorder characterized by a wide spectrum of cognitive dysfunction, developmental delays (particularly in speech and language acquisition), hypotonia, autism spectrum disorder, and other behavioral problems. Additional features commonly reported include seizures, refractive errors and strabismus, hearing loss, sleep disturbance (particularly sleep apnea), feeding and gastrointestinal problems, mild genital abnormalities in males, and urinary tract involvement in both males and females.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/897984">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_934687"><div><strong>Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>934687</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)&#10;Click for more information.">C4310720</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">GRIDHH is an autosomal recessive multisystem disorder characterized by poor overall growth, impaired intellectual development, hypotonia, and variable liver dysfunction. Additional features, such as seizures and hearing loss, may also be present (summary by Kopajtich et al., 2016).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/934687">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1379805"><div><strong>Noonan syndrome-like disorder with loose anagen hair 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1379805</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)&#10;Click for more information.">C4478716</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Noonan syndrome-like disorder with loose anagen hair is characterized by facial features similar to those observed in Noonan syndrome (163950), including hypertelorism, ptosis, downslanting palpebral fissures, low-set posteriorly angulated ears, and overfolded pinnae. In addition, patients display short stature, frequently with growth hormone (GH; see 139250) deficiency; cognitive deficits; relative macrocephaly; small posterior fossa resulting in Chiari I malformation; hypernasal voice; cardiac defects, especially dysplasia of the mitral valve and septal defects; and ectodermal abnormalities, in which the most characteristic feature is the hair anomaly, including easily pluckable, sparse, thin, slow-growing hair (summary by Bertola et al., 2017).&#13; Reviews&#13; Komatsuzaki et al. (2010) reviewed the clinical manifestations of patients with Noonan syndrome, Costello syndrome (218040), and cardiofaciocutaneous syndrome (CFC; see 115150) compared to patients with mutations in the SHOC2 gene. They noted that although there is phenotypic overlap among the disorders, loose anagen/easily pluckable hair had not been reported in mutation-positive patients with Noonan, CFC, or Costello syndrome, and appeared to be a distinctive feature of SHOC2 mutation-positive patients.&#13; Genetic Heterogeneity of Noonan Syndrome-Like Disorder with Loose Anagen Hair&#13; NSLH2 (617506) is caused by mutation in the PPP1CB gene (600590) on chromosome 2p23.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1379805">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1642123"><div><strong>Knobloch syndrome 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1642123</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)&#10;Click for more information.">C4551775</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Knobloch syndrome-1 (KNO1) is an autosomal recessive developmental disorder primarily characterized by typical eye abnormalities, including high myopia, cataracts, dislocated lens, vitreoretinal degeneration, and retinal detachment, with occipital skull defects, which can range from occipital encephalocele to occult cutis aplasia (summary by Aldahmesh et al., 2011).&#13; Genetic Heterogeneity of Knobloch Syndrome&#13; KNO2 (618458) is caused by mutation in the PAK2 gene (605022) on chromosome 3q29.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1642123">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1761918"><div><strong>Noonan syndrome 13</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1761918</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)&#10;Click for more information.">C5436773</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Noonan syndrome (NS) is characterized by characteristic facies, short stature, congenital heart defect, and developmental delay of variable degree. Other findings can include broad or webbed neck, unusual chest shape with superior pectus carinatum and inferior pectus excavatum, cryptorchidism, varied coagulation defects, lymphatic dysplasias, and ocular abnormalities. Although birth length is usually normal, final adult height approaches the lower limit of normal. Congenital heart disease occurs in 50%-80% of individuals. Pulmonary valve stenosis, often with dysplasia, is the most common heart defect and is found in 20%-50% of individuals. Hypertrophic cardiomyopathy, found in 20%-30% of individuals, may be present at birth or develop in infancy or childhood. Other structural defects include atrial and ventricular septal defects, branch pulmonary artery stenosis, and tetralogy of Fallot. Up to one fourth of affected individuals have mild intellectual disability, and language impairments in general are more common in NS than in the general population.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1761918">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1788942"><div><strong>Multiple congenital anomalies-neurodevelopmental syndrome, X-linked</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1788942</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)&#10;Click for more information.">C5542341</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">X-linked multiple congenital anomalies-neurodevelopmental syndrome (MCAND) is an X-linked recessive congenital multisystemic disorder characterized by poor growth, global developmental delay with impaired intellectual development, and variable abnormalities of the cardiac, skeletal, and genitourinary systems. Most affected individuals also have hypotonia and dysmorphic craniofacial features. Brain imaging typically shows enlarged ventricles and thin corpus callosum; some have microcephaly, whereas others have hydrocephalus. The severity of the disorder is highly variable, ranging from death in early infancy to survival into the second or third decade. Pathogenetically, the disorder results from disrupted gene expression and signaling during embryogenesis, thus affecting multiple systems (summary by Tripolszki et al., 2021 and Beck et al., 2021). Beck et al. (2021) referred to the disorder as LINKED syndrome (LINKage-specific deubiquitylation deficiency-induced Embryonic Defects).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1788942">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1824002"><div><strong>Neurodevelopmental disorder with poor growth, spastic tetraplegia, and hearing loss</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1824002</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)&#10;Click for more information.">C5774229</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Birk-Aharoni syndrome (BKAH) is a severe neurodevelopmental disorder characterized developmental delay, impaired intellectual development, absent speech, spastic tetraplegia with central hypotonia, chorea, inability to walk, hearing loss, micropenis, undescended testes, and mildly elevated liver enzymes (Aharoni et al., 2022).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1824002">Condition Record</a></div></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_365434" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Alagille syndrome due to a JAG1 point mutation</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_341214" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">CHIME syndrome</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_343663" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 1</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_347666" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_338020" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Exstrophy-epispadias complex</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (22)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_483333" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Fanconi anemia complementation group A</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_483324" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Fanconi anemia complementation group C</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_463627" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Fanconi anemia complementation group D2</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_463628" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Fanconi anemia complementation group E</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_934687" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_897984" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_162897" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Kabuki syndrome</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1642123" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Knobloch syndrome 1</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_477139" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Multiple congenital anomalies-hypotonia-seizures syndrome 2</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1788942" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Multiple congenital anomalies-neurodevelopmental syndrome, X-linked</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1824002" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neurodevelopmental disorder with poor growth, spastic tetraplegia, and hearing loss</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_371746" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Noduli Cutanei, multiple, with urinary tract abnormalities</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1761918" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Noonan syndrome 13</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1379805" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Noonan syndrome-like disorder with loose anagen hair 1</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_61231" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Smith-Lemli-Opitz syndrome</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_21778" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ureterocele</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_863268" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Vesicoureteral reflux 8</a></div></span></div></div>
</div>
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<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/38441661">Primary non-refluxing megaureter: Natural history, follow-up and treatment.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Rivetti G,
Marzuillo P,
Guarino S,
Di Sessa A,
La Manna A,
Caldamone AA,
Papparella A,
Noviello C</span><br />
<span class="medgenPMjournal">Eur J Pediatr</span>
2024 May;183(5):2029-2036.
Epub 2024 Mar 5
doi: 10.1007/s00431-024-05494-7.
<span class="bold">PMID: </span><a href="/pubmed/38441661" target="_blank">38441661</a><a href="/pmc/articles/PMC11035438" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/36194420">Periodontal therapy for primary or secondary prevention of cardiovascular disease in people with periodontitis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Ye Z,
Cao Y,
Miao C,
Liu W,
Dong L,
Lv Z,
Iheozor-Ejiofor Z,
Li C</span><br />
<span class="medgenPMjournal">Cochrane Database Syst Rev</span>
2022 Oct 4;10(10):CD009197.
doi: 10.1002/14651858.CD009197.pub5.
<span class="bold">PMID: </span><a href="/pubmed/36194420" target="_blank">36194420</a><a href="/pmc/articles/PMC9531722" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/26359361">Management of Central Poststroke Pain: Systematic Review of Randomized Controlled Trials.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Mulla SM,
Wang L,
Khokhar R,
Izhar Z,
Agarwal A,
Couban R,
Buckley DN,
Moulin DE,
Panju A,
Makosso-Kallyth S,
Turan A,
Montori VM,
Sessler DI,
Thabane L,
Guyatt GH,
Busse JW</span><br />
<span class="medgenPMjournal">Stroke</span>
2015 Oct;46(10):2853-60.
Epub 2015 Sep 10
doi: 10.1161/STROKEAHA.115.010259.
<span class="bold">PMID: </span><a href="/pubmed/26359361" target="_blank">26359361</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(duplicated%20collecting%20system)%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 (58)</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/39218731">Open distal ureteroureterostomy for non-refluxing duplicated collecting system in children: Multicentric study and mid-term outcomes.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Rodriguez MV,
Pena P,
Vargas E,
Yankovic F,
Reed F,
Ovalle JR,
Lopez PJ,
Braga LH,
Prieto JC</span><br />
<span class="medgenPMjournal">J Pediatr Urol</span>
2024 Dec;20(6):1166-1173.
Epub 2024 Aug 13
doi: 10.1016/j.jpurol.2024.08.005.
<span class="bold">PMID: </span><a href="/pubmed/39218731" target="_blank">39218731</a></div>
<div class="nl"><a target="_blank" href="/pubmed/34325995">Evaluation of bladder and bowel functions in children with microcephaly and congenital zika syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Azevedo de Almeida V,
Gonçalves RP,
Morya E,
Cavalcanti Simas LE,
Rodrigues Arrais NM,
Lisboa LL,
Costa Monteiro LM,
Antônio de Oliveira Freitas Júnior R</span><br />
<span class="medgenPMjournal">J Pediatr Urol</span>
2021 Oct;17(5):733.e1-733.e8.
Epub 2021 Jul 8
doi: 10.1016/j.jpurol.2021.06.033.
<span class="bold">PMID: </span><a href="/pubmed/34325995" target="_blank">34325995</a></div>
<div class="nl"><a target="_blank" href="/pubmed/33284555">Mini-percutaneous nephrolithotomy in a child with multiple urogenital anomalies and a solitary duplex kidney.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Çakici MÇ,
Keser F,
Atis RG,
Yildirim A</span><br />
<span class="medgenPMjournal">Int Braz J Urol</span>
2021 Mar-Apr;47(2):464-467.
doi: 10.1590/S1677-5538.IBJU.2019.0545.
<span class="bold">PMID: </span><a href="/pubmed/33284555" target="_blank">33284555</a><a href="/pmc/articles/PMC7857776" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/26279101">Is renal scintigraphy necessary after heminephrectomy in children?</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Strine AC,
Whittam BM,
Misseri R,
Kaefer M,
Rink RC,
Karmazyn B,
Cain MP</span><br />
<span class="medgenPMjournal">J Pediatr Urol</span>
2016 Feb;12(1):38.e1-4.
Epub 2015 Aug 4
doi: 10.1016/j.jpurol.2015.06.013.
<span class="bold">PMID: </span><a href="/pubmed/26279101" target="_blank">26279101</a></div>
<div class="nl"><a target="_blank" href="/pubmed/24582571">Congenital genitourinary abnormalities in children with Williams-Beuren syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Sammour ZM,
Gomes CM,
de Bessa J Jr,
Pinheiro MS,
Kim CA,
Hisano M,
Bruschini H,
Srougi M</span><br />
<span class="medgenPMjournal">J Pediatr Urol</span>
2014 Oct;10(5):804-9.
Epub 2014 Feb 13
doi: 10.1016/j.jpurol.2014.01.013.
<span class="bold">PMID: </span><a href="/pubmed/24582571" target="_blank">24582571</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Duplicated%20collecting%20system%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 (29)</a></div><h3 class="subhead">Diagnosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/34507788">Duplicated collecting system.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Society for Maternal-Fetal Medicine (SMFM),
Hopkins LM</span><br />
<span class="medgenPMjournal">Am J Obstet Gynecol</span>
2021 Nov;225(5):B12-B13.
Epub 2021 Sep 8
doi: 10.1016/j.ajog.2021.06.040.
<span class="bold">PMID: </span><a href="/pubmed/34507788" target="_blank">34507788</a></div>
<div class="nl"><a target="_blank" href="/pubmed/29995617">A Spectrum of Entities That May Mimic Abdominopelvic Abscesses Requiring Image-guided Drainage.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Moomjian LN,
Clayton RD,
Carucci LR</span><br />
<span class="medgenPMjournal">Radiographics</span>
2018 Jul-Aug;38(4):1264-1281.
doi: 10.1148/rg.2018170133.
<span class="bold">PMID: </span><a href="/pubmed/29995617" target="_blank">29995617</a></div>
<div class="nl"><a target="_blank" href="/pubmed/29043421">The duplicated collecting system of the urinary tract: embryology, imaging appearances and clinical considerations.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Didier RA,
Chow JS,
Kwatra NS,
Retik AB,
Lebowitz RL</span><br />
<span class="medgenPMjournal">Pediatr Radiol</span>
2017 Oct;47(11):1526-1538.
Epub 2017 Sep 21
doi: 10.1007/s00247-017-3904-z.
<span class="bold">PMID: </span><a href="/pubmed/29043421" target="_blank">29043421</a></div>
<div class="nl"><a target="_blank" href="/pubmed/15166891">Duplicated collecting system: not following Weigert-Meyer rule as a result of renal stone obstructing the lower ureteropelvic junction.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Zamani R,
Martinez R,
Reddy MP</span><br />
<span class="medgenPMjournal">Clin Nucl Med</span>
2004 Jun;29(6):386-7.
doi: 10.1097/01.rlu.0000127098.63372.30.
<span class="bold">PMID: </span><a href="/pubmed/15166891" target="_blank">15166891</a></div>
<div class="nl"><a target="_blank" href="/pubmed/1189149">Unusual presentation of cecoureterocele.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Shappley NP,
Keeton JE</span><br />
<span class="medgenPMjournal">Urology</span>
1975 Nov;6(5):605-8.
doi: 10.1016/0090-4295(75)90511-7.
<span class="bold">PMID: </span><a href="/pubmed/1189149" target="_blank">1189149</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Duplicated%20collecting%20system%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 (43)</a></div><h3 class="subhead">Therapy</h3>
<div class="nl"><a target="_blank" href="/pubmed/31958533">Bilateral Ureteropelvic Junction Disruptions in a 17-Year-Old With Bilateral Ureteral Duplications: Impact of Unrecognized Duplications and Unique Management of Nephrocutaneous Fistula.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Schlomer BJ,
Secrest CL</span><br />
<span class="medgenPMjournal">Urology</span>
2020 May;139:171-174.
Epub 2020 Jan 17
doi: 10.1016/j.urology.2020.01.012.
<span class="bold">PMID: </span><a href="/pubmed/31958533" target="_blank">31958533</a></div>
<div class="nl"><a target="_blank" href="/pubmed/26026792">Mutations of the SLIT2-ROBO2 pathway genes SLIT2 and SRGAP1 confer risk for congenital anomalies of the kidney and urinary tract.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Hwang DY,
Kohl S,
Fan X,
Vivante A,
Chan S,
Dworschak GC,
Schulz J,
van Eerde AM,
Hilger AC,
Gee HY,
Pennimpede T,
Herrmann BG,
van de Hoek G,
Renkema KY,
Schell C,
Huber TB,
Reutter HM,
Soliman NA,
Stajic N,
Bogdanovic R,
Kehinde EO,
Lifton RP,
Tasic V,
Lu W,
Hildebrandt F</span><br />
<span class="medgenPMjournal">Hum Genet</span>
2015 Aug;134(8):905-16.
Epub 2015 May 31
doi: 10.1007/s00439-015-1570-5.
<span class="bold">PMID: </span><a href="/pubmed/26026792" target="_blank">26026792</a><a href="/pmc/articles/PMC4497857" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/21071918">Delayed detection of injury to an ectopic ureter of a duplicated collecting system following laparoscopic radical prostatectomy for early organ-confined prostate cancer.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Ghazi A,
Zimmermann R,
Janetschek G</span><br />
<span class="medgenPMjournal">Urol Int</span>
2011;86(1):121-4.
Epub 2010 Nov 13
doi: 10.1159/000321240.
<span class="bold">PMID: </span><a href="/pubmed/21071918" target="_blank">21071918</a></div>
<div class="nl"><a target="_blank" href="/pubmed/17179352">Surgically relevant normal and variant renal parenchymal and vascular anatomy in preoperative 16-MDCT evaluation of potential laparoscopic renal donors.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Raman SS,
Pojchamarnwiputh S,
Muangsomboon K,
Schulam PG,
Gritsch HA,
Lu DS</span><br />
<span class="medgenPMjournal">AJR Am J Roentgenol</span>
2007 Jan;188(1):105-14.
doi: 10.2214/AJR.05.1002.
<span class="bold">PMID: </span><a href="/pubmed/17179352" target="_blank">17179352</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Duplicated%20collecting%20system%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 (4)</a></div><h3 class="subhead">Prognosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/39218731">Open distal ureteroureterostomy for non-refluxing duplicated collecting system in children: Multicentric study and mid-term outcomes.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Rodriguez MV,
Pena P,
Vargas E,
Yankovic F,
Reed F,
Ovalle JR,
Lopez PJ,
Braga LH,
Prieto JC</span><br />
<span class="medgenPMjournal">J Pediatr Urol</span>
2024 Dec;20(6):1166-1173.
Epub 2024 Aug 13
doi: 10.1016/j.jpurol.2024.08.005.
<span class="bold">PMID: </span><a href="/pubmed/39218731" target="_blank">39218731</a></div>
<div class="nl"><a target="_blank" href="/pubmed/34369632">Frequency and prediction of persistent urinary tract dilation in third trimester and postnatal urinary tract dilation in infants following diagnosis in second trimester.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Green CA,
Adams JC,
Goodnight WH,
Odibo AO,
Bromley B,
Jelovsek JE,
Stamilio DM,
Venkatesh KK</span><br />
<span class="medgenPMjournal">Ultrasound Obstet Gynecol</span>
2022 Apr;59(4):522-531.
doi: 10.1002/uog.23758.
<span class="bold">PMID: </span><a href="/pubmed/34369632" target="_blank">34369632</a></div>
<div class="nl"><a target="_blank" href="/pubmed/34507788">Duplicated collecting system.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Society for Maternal-Fetal Medicine (SMFM),
Hopkins LM</span><br />
<span class="medgenPMjournal">Am J Obstet Gynecol</span>
2021 Nov;225(5):B12-B13.
Epub 2021 Sep 8
doi: 10.1016/j.ajog.2021.06.040.
<span class="bold">PMID: </span><a href="/pubmed/34507788" target="_blank">34507788</a></div>
<div class="nl"><a target="_blank" href="/pubmed/29133166">Determination of threshold value for follow-up of isolated antenatal hydronephrosis detected in the second trimester.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">de Roo R,
Voskamp BJ,
Kleinrouweler CE,
Mol BW,
Pajkrt E,
Bouts AHM</span><br />
<span class="medgenPMjournal">J Pediatr Urol</span>
2017 Dec;13(6):594-601.
Epub 2017 Jun 21
doi: 10.1016/j.jpurol.2017.06.001.
<span class="bold">PMID: </span><a href="/pubmed/29133166" target="_blank">29133166</a></div>
<div class="nl"><a target="_blank" href="/pubmed/26279101">Is renal scintigraphy necessary after heminephrectomy in children?</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Strine AC,
Whittam BM,
Misseri R,
Kaefer M,
Rink RC,
Karmazyn B,
Cain MP</span><br />
<span class="medgenPMjournal">J Pediatr Urol</span>
2016 Feb;12(1):38.e1-4.
Epub 2015 Aug 4
doi: 10.1016/j.jpurol.2015.06.013.
<span class="bold">PMID: </span><a href="/pubmed/26279101" target="_blank">26279101</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Duplicated%20collecting%20system%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 (13)</a></div><h3 class="subhead">Clinical prediction guides</h3>
<div class="nl"><a target="_blank" href="/pubmed/34369632">Frequency and prediction of persistent urinary tract dilation in third trimester and postnatal urinary tract dilation in infants following diagnosis in second trimester.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Green CA,
Adams JC,
Goodnight WH,
Odibo AO,
Bromley B,
Jelovsek JE,
Stamilio DM,
Venkatesh KK</span><br />
<span class="medgenPMjournal">Ultrasound Obstet Gynecol</span>
2022 Apr;59(4):522-531.
doi: 10.1002/uog.23758.
<span class="bold">PMID: </span><a href="/pubmed/34369632" target="_blank">34369632</a></div>
<div class="nl"><a target="_blank" href="/pubmed/34325995">Evaluation of bladder and bowel functions in children with microcephaly and congenital zika syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Azevedo de Almeida V,
Gonçalves RP,
Morya E,
Cavalcanti Simas LE,
Rodrigues Arrais NM,
Lisboa LL,
Costa Monteiro LM,
Antônio de Oliveira Freitas Júnior R</span><br />
<span class="medgenPMjournal">J Pediatr Urol</span>
2021 Oct;17(5):733.e1-733.e8.
Epub 2021 Jul 8
doi: 10.1016/j.jpurol.2021.06.033.
<span class="bold">PMID: </span><a href="/pubmed/34325995" target="_blank">34325995</a></div>
<div class="nl"><a target="_blank" href="/pubmed/21359618">Renin-angiotensin system in ureteric bud branching morphogenesis: insights into the mechanisms.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Yosypiv IV</span><br />
<span class="medgenPMjournal">Pediatr Nephrol</span>
2011 Sep;26(9):1499-512.
Epub 2011 Feb 26
doi: 10.1007/s00467-011-1820-2.
<span class="bold">PMID: </span><a href="/pubmed/21359618" target="_blank">21359618</a></div>
<div class="nl"><a target="_blank" href="/pubmed/19110530">A new role for the renin-angiotensin system in the development of the ureteric bud and renal collecting system.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Yosypiv IV</span><br />
<span class="medgenPMjournal">Keio J Med</span>
2008 Dec;57(4):184-9.
doi: 10.2302/kjm.57.184.
<span class="bold">PMID: </span><a href="/pubmed/19110530" target="_blank">19110530</a><a href="/pmc/articles/PMC2716750" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/12934856">Upper urinary tract tumor in a duplicated collecting system: report of three cases and review of the literature.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Chen KS,
Chuang CK,
Wu CH,
Liaw CC,
Lee N</span><br />
<span class="medgenPMjournal">Chang Gung Med J</span>
2003 May;26(5):377-82.
<span class="bold">PMID: </span><a href="/pubmed/12934856" target="_blank">12934856</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Duplicated%20collecting%20system%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 (9)</a></div></div>
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<h2 class="offscreen_noflow">Supplemental Content</h2>
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<div class="portlet_content ln"><ul><li><a href="https://clinicaltrials.gov/search?cond=Duplicated%20collecting%20system" target="_blank">ClinicalTrials.gov</a></li></ul></div>
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