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<meta name="keywords" content="C0238207, abnormal kidney location, congenital abnormality, displaced kidney, ectopic kidney, ectopic kidneys, renal ectopia, 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 developmental defect in which a kidney is located in an abnormal anatomic position." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
|
||
UID=68661
|
||
ConceptID=C0238207
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Ectopic kidney</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>68661</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.">C0238207</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>Displaced kidney; Ectopic kidneys; Renal ectopia</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Ectopic kidney (16507009)</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:0000086">HP:0000086</a></td></tr>
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||
<div class="portlet_content ln">A developmental defect in which a kidney is located in an abnormal anatomic position. [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_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 Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0238207[DISCUI]&test_type=Clinical" ref="ncbi_uid=68661">C</a></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">Ectopic kidney</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/866621" ref="tree=MeSH" title="MedGen record for Abnormal localization of kidney">Abnormal localization of kidney</a></span><ul><li><span class="matched_ds">Ectopic kidney</span><ul><li><span class="TLline"><a href="/medgen/372130" ref="tree=MeSH" title="MedGen record for Crossed fused renal ectopia">Crossed fused renal ectopia</a></span><ul><li><span class="TLline"><a href="/medgen/1814383" ref="tree=MeSH" title="MedGen record for Disc kidney">Disc kidney</a></span></li><li><span class="TLline"><a href="/medgen/1814380" ref="tree=MeSH" title="MedGen record for Inferior crossed fused renal ectopia">Inferior crossed fused renal ectopia</a></span></li><li><span class="TLline"><a href="/medgen/1813216" ref="tree=MeSH" title="MedGen record for L-shaped kidney">L-shaped kidney</a></span></li><li><span class="TLline"><a href="/medgen/1814381" ref="tree=MeSH" title="MedGen record for Sigmoid kidney">Sigmoid kidney</a></span></li><li><span class="TLline"><a href="/medgen/1814384" ref="tree=MeSH" title="MedGen record for Superior crossed-fused renal ectopia">Superior crossed-fused renal ectopia</a></span></li><li><span class="TLline"><a href="/medgen/1814382" ref="tree=MeSH" title="MedGen record for Unilateral lump kidney">Unilateral lump kidney</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/67446" ref="tree=MeSH" title="MedGen record for Pelvic kidney">Pelvic kidney</a></span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></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">
|
||
<div class="divPopper rprt" id="rdis_65084"><div><strong>Schizophrenia 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>65084</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.">C0220702</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A schizophrenia that has material basis in an autosomal dominant mutation of SCZD1 on chromosome 5q23-q35.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/65084">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_113104"><div><strong>Hypertelorism, microtia, facial clefting syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>113104</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.">C0220742</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A very rare syndrome with characteristics of the combination of hypertelorism, cleft lip and palate and microtia. Nine cases have been reported in the literature in seven families. Some patients have associated cardiac or renal congenital malformations. Short stature and intellectual deficiency are common. The reported cases support autosomal recessive inheritance.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/113104">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_120514"><div><strong>Pallister-Hall syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>120514</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.">C0265220</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">GLI3-related Pallister-Hall syndrome (GLI3-PHS) is characterized by a spectrum of anomalies ranging from polydactyly, asymptomatic bifid epiglottis, and hypothalamic hamartoma at the mild end to laryngotracheal cleft with neonatal lethality at the severe end. Individuals with mild GLI3-PHS may be incorrectly diagnosed as having isolated postaxial polydactyly type A. Individuals with GLI3-PHS can have pituitary insufficiency and may die as neonates from undiagnosed and untreated adrenal insufficiency.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/120514">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_120537"><div><strong>Cerebro-costo-mandibular syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>120537</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.">C0265342</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Cerebrocostomandibular syndrome (CCMS) is a rare autosomal dominant disorder characterized by branchial arch-derivative and thoracic malformations. A key craniofacial characteristic is micrognathia, often associated with cleft palate and feeding and airway difficulties. Patients with CCMS have a narrow chest and striking posterior rib gaps which distinguish this condition (summary by Tooley et al., 2016). See CDG2G (611209) for a cerebrocostomandibular-like syndrome.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/120537">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) 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_372133"><div><strong>Fanconi anemia complementation group N</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>372133</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.">C1835817</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/372133">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_334629"><div><strong>Chromosome 1p36 deletion syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>334629</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.">C1842870</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The constitutional deletion of chromosome 1p36 results in a syndrome with multiple congenital anomalies and mental retardation (Shapira et al., 1997). Monosomy 1p36 is the most common terminal deletion syndrome in humans, occurring in 1 in 5,000 births (Shaffer and Lupski, 2000; Heilstedt et al., 2003). See also neurodevelopmental disorder with or without anomalies of the brain, eye, or heart (NEDBEH; 616975), which shows overlapping features and is caused by heterozygous mutation in the RERE gene (605226) on proximal chromosome 1p36. See also Radio-Tartaglia syndrome (RATARS; 619312), caused by mutation in the SPEN gene (613484) on chromosome 1p36, which shows overlapping features.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/334629">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_338264"><div><strong>Seckel syndrome 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>338264</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.">C1847572</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Seckel syndrome (SCKL) is a rare autosomal recessive disorder characterized by growth retardation, microcephaly with impaired intellectual development, and a characteristic facial appearance (Borglum et al., 2001). For a general phenotypic description and a discussion of genetic heterogeneity of Seckel syndrome, see SCKL1 (210600).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/338264">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_337894"><div><strong>Bartsocas-Papas syndrome 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>337894</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.">C1849718</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Bartsocas-Papas syndrome-1 (BPS1) is an autosomal recessive disorder characterized by multiple popliteal pterygia, ankyloblepharon, filiform bands between the jaws, cleft lip and palate, and syndactyly. Early lethality is common, although survival into childhood and beyond has been reported (summary by Mitchell et al., 2012). Genetic Heterogeneity of Bartsocas-Papas Syndrome Bartsocas-Papas syndrome-2 (BPS2) is caused by mutation in the CHUK gene (600664). A less severe form of popliteal pterygium syndrome (PPS; 119500) is caused by mutation in the IRF6 gene (607199).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/337894">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_395226"><div><strong>Cenani-Lenz syndactyly syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>395226</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.">C1859309</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Cenani-Lenz syndactyly syndrome (CLSS) is an autosomal recessive disorder characterized mainly by anomalies of distal limb development, with fusion and disorganization of metacarpal and phalangeal bones, radius and ulnar shortening, radioulnar synostosis, and severe syndactyly of hands and feet. Mild facial dysmorphism is present in most patients. Kidney anomalies, including renal agenesis and hypoplasia, occur in over half of patients (summary by Li et al., 2010).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/395226">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_400843"><div><strong>Ventriculomegaly with defects of the radius and kidney</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>400843</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.">C1865780</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/400843">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_357976"><div><strong>Radial-renal syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>357976</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.">C1867396</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/357976">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_356994"><div><strong>Pelvic lipomatosis with crossed renal ectopia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>356994</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.">C1868511</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/356994">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_442377"><div><strong>Combined immunodeficiency with faciooculoskeletal anomalies</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>442377</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.">C2750068</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Roifman-Chitayat syndrome (ROCHIS) is an autosomal recessive digenic disorder characterized by global developmental delay, variable neurologic features such as seizures, ataxia, and optic atrophy, dysmorphic facial features, distal skeletal anomalies, and combined immunodeficiency manifest as recurrent infections (summary by Sharfe et al., 2018).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/442377">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_412873"><div><strong>Diamond-Blackfan anemia 10</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>412873</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.">C2750080</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Diamond-Blackfan anemia (DBA) is characterized by a profound normochromic and usually macrocytic anemia with normal leukocytes and platelets, congenital malformations in up to 50%, and growth deficiency in 30% of affected individuals. The hematologic complications occur in 90% of affected individuals during the first year of life. The phenotypic spectrum ranges from a mild form (e.g., mild anemia or no anemia with only subtle erythroid abnormalities, physical malformations without anemia) to a severe form of fetal anemia resulting in nonimmune hydrops fetalis. DBA is associated with an increased risk for acute myelogenous leukemia (AML), myelodysplastic syndrome (MDS), and solid tumors including osteogenic sarcoma.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/412873">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_462350"><div><strong>Porencephaly-microcephaly-bilateral congenital cataract syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>462350</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.">C3151000</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">HDBSCC is an autosomal recessive disorder with a distinctive phenotype comprising hemorrhagic destruction of the brain, subependymal calcification, and congenital cataracts. Affected individuals have a catastrophic neurologic clinical course resulting in death in infancy (summary by Akawi et al., 2013).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/462350">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) 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) 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_482831"><div><strong>Coffin-Siris syndrome 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>482831</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.">C3281201</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Coffin-Siris syndrome (CSS) is classically characterized by aplasia or hypoplasia of the distal phalanx or nail of the fifth and additional digits, developmental or cognitive delay of varying degree, distinctive facial features, hypotonia, hirsutism/hypertrichosis, and sparse scalp hair. Congenital anomalies can include malformations of the cardiac, gastrointestinal, genitourinary, and/or central nervous systems. Other findings commonly include feeding difficulties, slow growth, ophthalmologic abnormalities, and hearing impairment.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/482831">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) 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) 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_501171"><div><strong>Craniofacial microsomia 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>501171</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.">C3495417</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Craniofacial microsomia is a term used to describe a spectrum of abnormalities that primarily affect the development of the skull (cranium) and face before birth. Microsomia means abnormal smallness of body structures. Most people with craniofacial microsomia have differences in the size and shape of facial structures between the right and left sides of the face (facial asymmetry). In about two-thirds of cases, both sides of the face have abnormalities, which usually differ from one side to the other. Other individuals with craniofacial microsomia are affected on only one side of the face. The facial characteristics in craniofacial microsomia typically include underdevelopment of one side of the upper or lower jaw (maxillary or mandibular hypoplasia), which can cause dental problems and difficulties with feeding and speech. In cases of severe mandibular hypoplasia, breathing may also be affected.\n\nPeople with craniofacial microsomia usually have ear abnormalities affecting one or both ears, typically to different degrees. They may have growths of skin (skin tags) in front of the ear (preauricular tags), an underdeveloped or absent external ear (microtia or anotia), or a closed or absent ear canal; these abnormalities may lead to hearing loss. Eye problems are less common in craniofacial microsomia, but some affected individuals have an unusually small eyeball (microphthalmia) or other eye abnormalities that result in vision loss.\n\nAbnormalities in other parts of the body, such as malformed bones of the spine (vertebrae), abnormally shaped kidneys, and heart defects, may also occur in people with craniofacial microsomia.\n\nMany other terms have been used for craniofacial microsomia. These other names generally refer to forms of craniofacial microsomia with specific combinations of signs and symptoms, although sometimes they are used interchangeably. Hemifacial microsomia often refers to craniofacial microsomia with maxillary or mandibular hypoplasia. People with hemifacial microsomia and noncancerous (benign) growths in the eye called epibulbar dermoids may be said to have Goldenhar syndrome or oculoauricular dysplasia.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/501171">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_813076"><div><strong>Intellectual disability, X-linked 99</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>813076</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.">C3806746</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the USP9X gene.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/813076">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_856014"><div><strong>Seckel syndrome 8</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>856014</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.">C3891452</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Seckel syndrome-8 (SCKL8) is characterized by severe microcephaly and markedly reduced height. Some patients have bird-like facies and exhibit developmental delays (Shaheen et al., 2014; Tarnauskaite et al., 2019). For a discussion of genetic heterogeneity of Seckel syndrome, see SCKL1 (210600).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/856014">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_860487"><div><strong>Hennekam lymphangiectasia-lymphedema syndrome 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>860487</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.">C4012050</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hennekam lymphangiectasia-lymphedema syndrome (HKLLS1) is an autosomal recessive disorder characterized by generalized lymphatic dysplasia affecting various organs, including the intestinal tract, pericardium, and limbs. Additional features of the disorder include facial dysmorphism and cognitive impairment (summary by Alders et al., 2014). Genetic Heterogeneity of Hennekam Lymphangiectasia-Lymphedema Syndrome See also HKLLS2 (616006), caused by mutation in the FAT4 gene (612411) on chromosome 4q28, and HKLLS3 (618154), caused by mutation in the ADAMTS3 gene (605011) on chromosome 4q13.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/860487">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_895448"><div><strong>Short stature, microcephaly, and endocrine dysfunction</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>895448</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.">C4225288</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">In patients with SSMED, short stature and microcephaly are apparent at birth, and there is progressive postnatal growth failure. Endocrine dysfunction, including hypergonadotropic hypogonadism, multinodular goiter, and diabetes mellitus, is present in affected adults. Progressive ataxia has been reported in some patients, with onset ranging from the second to fifth decade of life. In addition, a few patients have developed tumors, suggesting that there may be a predisposition to tumorigenesis. In contrast to syndromes involving defects in other components of the nonhomologous end-joining (NHEJ) complex (see, e.g., 606593), no clinically overt immunodeficiency has been observed in SSMED, although laboratory analysis has revealed lymphopenia or borderline leukopenia in some patients (Murray et al., 2015; Bee et al., 2015; de Bruin et al., 2015; Guo et al., 2015).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/895448">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_902479"><div><strong>VATER association</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>902479</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.">C4225671</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">VATER is a mnemonically useful acronym for the nonrandom association of vertebral defects (V), anal atresia (A), tracheoesophageal fistula with esophageal atresia (TE), and radial or renal dysplasia (R). This combination of associated defects was pointed out by Quan and Smith (1972). Nearly all cases have been sporadic. VACTERL is an acronym for an expanded definition of the association that includes cardiac malformations (C) and limb anomalies (L). The VACTERL association is a spectrum of various combinations of its 6 components, which can be a manifestation of several recognized disorders rather than a distinct anatomic or etiologic entity (Khoury et al., 1983). Also see VATER/VACTERL association with hydrocephalus (VACTERL-H; 276950) and VACTERL with or without hydrocephalus (VACTERLX; 314390).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/902479">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_931237"><div><strong>Mayer-Rokitansky-Küster-Hauser syndrome type 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>931237</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.">C4305568</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 2, a form of MRKH syndrome (see this term), is characterized by congenital aplasia of the uterus and upper 2/3 of the vagina that is associated with at least one other malformation such as renal, vertebral, or, less commonly, auditory and cardiac defects. The acronym MURCS (MÜllerian duct aplasia, Renal dysplasia, Cervical Somite anomalies) is also used.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/931237">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_934618"><div><strong>Fanconi anemia complementation group U</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>934618</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.">C4310651</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/934618">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1612119"><div><strong>Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1612119</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.">C4539968</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">CAKUTHED is an autosomal dominant highly pleiotropic developmental disorder characterized mainly by variable congenital anomalies of the kidney and urinary tract, sometimes resulting in renal dysfunction or failure, dysmorphic facial features, and abnormalities of the outer ear, often with hearing loss. Most patients have global developmental delay (summary by Heidet et al., 2017 and Slavotinek et al., 2017).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1612119">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1645760"><div><strong>Cornelia de Lange syndrome 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1645760</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.">C4551851</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Cornelia de Lange syndrome (CdLS) encompasses a spectrum of findings from mild to severe. Severe (classic) CdLS is characterized by distinctive facial features, growth restriction (prenatal onset; <5th centile throughout life), hypertrichosis, and upper-limb reduction defects that range from subtle phalangeal abnormalities to oligodactyly (missing digits). Craniofacial features include synophrys, highly arched and/or thick eyebrows, long eyelashes, short nasal bridge with anteverted nares, small widely spaced teeth, and microcephaly. Individuals with a milder phenotype have less severe growth, cognitive, and limb involvement, but often have facial features consistent with CdLS. Across the CdLS spectrum IQ ranges from below 30 to 102 (mean: 53). Many individuals demonstrate autistic and self-destructive tendencies. Other frequent findings include cardiac septal defects, gastrointestinal dysfunction, hearing loss, myopia, and cryptorchidism or hypoplastic genitalia.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1645760">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1648427"><div><strong>Congenital anomalies of kidney and urinary tract 3</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1648427</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.">C4748921</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1648427">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1840225"><div><strong>Intellectual developmental disorder, X-linked 112</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1840225</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.">C5829589</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">X-linked intellectual disorder-112 (XLID112) is a neurodevelopmental disorder characterized by developmental delay, with speech delay more prominent than motor delay, autism or autism traits, and variable dysmorphic features. Affected females have been reported, which appears to be related to skewed X-inactivation (summary by Hiatt et al., 2023).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1840225">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_337894" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Bartsocas-Papas syndrome 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_395226" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cenani-Lenz syndactyly syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_120537" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cerebro-costo-mandibular syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_334629" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Chromosome 1p36 deletion syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_482831" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Coffin-Siris syndrome 1</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (33)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_442377" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Combined immunodeficiency with faciooculoskeletal anomalies</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1648427" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Congenital anomalies of kidney and urinary tract 3</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1612119" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1645760" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cornelia de Lange syndrome 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_501171" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Craniofacial microsomia 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_412873" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Diamond-Blackfan anemia 10</a></div>
|
||
<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_372133" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Fanconi anemia complementation group N</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_934618" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Fanconi anemia complementation group U</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_860487" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hennekam lymphangiectasia-lymphedema syndrome 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_113104" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypertelorism, microtia, facial clefting syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1840225" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Intellectual developmental disorder, X-linked 112</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_813076" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Intellectual disability, X-linked 99</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_931237" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mayer-Rokitansky-Küster-Hauser syndrome type 2</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_120514" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pallister-Hall syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_356994" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pelvic lipomatosis with crossed renal ectopia</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_462350" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Porencephaly-microcephaly-bilateral congenital cataract syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_357976" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Radial-renal syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_65084" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Schizophrenia 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_338264" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Seckel syndrome 2</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_856014" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Seckel syndrome 8</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_895448" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Short stature, microcephaly, and endocrine dysfunction</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_902479" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">VATER association</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_400843" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ventriculomegaly with defects of the radius and kidney</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/39003886">Prenatal diagnosis of ectopic kidney: Evaluation of characteristics, additional anomalies and urinary complications.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Inan C,
|
||
Sayin C,
|
||
Varol F</span><br />
|
||
<span class="medgenPMjournal">Eur J Obstet Gynecol Reprod Biol</span>
|
||
2024 Sep;300:150-154.
|
||
Epub 2024 Jul 11
|
||
doi: 10.1016/j.ejogrb.2024.07.024.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39003886" target="_blank">39003886</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29808250">Prenatal diagnosis of Wolf-Hirschhorn syndrome: from ultrasound findings, diagnostic technology to genetic counseling.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Xing Y,
|
||
Holder JL Jr,
|
||
Liu Y,
|
||
Yuan M,
|
||
Sun Q,
|
||
Qu X,
|
||
Deng L,
|
||
Zhou J,
|
||
Yang Y,
|
||
Guo M,
|
||
Cheung SW,
|
||
Sun L</span><br />
|
||
<span class="medgenPMjournal">Arch Gynecol Obstet</span>
|
||
2018 Aug;298(2):289-295.
|
||
Epub 2018 May 28
|
||
doi: 10.1007/s00404-018-4798-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29808250" target="_blank">29808250</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17867938">Pelvic kidney: associated diseases and treatment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cinman NM,
|
||
Okeke Z,
|
||
Smith AD</span><br />
|
||
<span class="medgenPMjournal">J Endourol</span>
|
||
2007 Aug;21(8):836-42.
|
||
doi: 10.1089/end.2007.9945.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17867938" target="_blank">17867938</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22ectopic%20kidney%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 (11)</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/33549475">Posterior cloaca: A urogenital rather than anorectal anomaly.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">AbouZeid AA,
|
||
Mohammad SA,
|
||
Shokry SS,
|
||
El-Naggar O</span><br />
|
||
<span class="medgenPMjournal">J Pediatr Urol</span>
|
||
2021 Jun;17(3):410.e1-410.e7.
|
||
Epub 2021 Jan 20
|
||
doi: 10.1016/j.jpurol.2021.01.014.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33549475" target="_blank">33549475</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30446779">Ectopias of the kidney, urinary tract organs, and male genitalia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mikuz G</span><br />
|
||
<span class="medgenPMjournal">Pathologe</span>
|
||
2019 Jun;40(Suppl 1):1-8.
|
||
doi: 10.1007/s00292-018-0505-z.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30446779" target="_blank">30446779</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29203188">Congenital Segmental Megaureter in an Ectopic Kidney.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Khanna A,
|
||
Mavuduru RS,
|
||
Bora GS,
|
||
Devana SK,
|
||
Mandal AK</span><br />
|
||
<span class="medgenPMjournal">Urology</span>
|
||
2018 Mar;113:e7-e8.
|
||
Epub 2017 Dec 1
|
||
doi: 10.1016/j.urology.2017.11.032.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29203188" target="_blank">29203188</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23156892">Intrathoracic kidney in a child: case report and review of literature.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dieguez-Santiesteban N,
|
||
Lugo-Vicente H</span><br />
|
||
<span class="medgenPMjournal">Bol Asoc Med P R</span>
|
||
2012 Jul-Sep;104(3):47-50.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23156892" target="_blank">23156892</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/12756361">Abdominal aortic aneurysm associated with crossed renal ectopia without fusion: case report and literature review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yano H,
|
||
Konagai N,
|
||
Maeda M,
|
||
Itoh M,
|
||
Kuwabara A,
|
||
Kudou T,
|
||
Ishimaru S</span><br />
|
||
<span class="medgenPMjournal">J Vasc Surg</span>
|
||
2003 May;37(5):1098-102.
|
||
doi: 10.1067/mva.2003.184.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12756361" target="_blank">12756361</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Ectopic%20kidney%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 (88)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35362662">Obesity-related glomerulopathy: Current approaches and future perspectives.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Martínez-Montoro JI,
|
||
Morales E,
|
||
Cornejo-Pareja I,
|
||
Tinahones FJ,
|
||
Fernández-García JC</span><br />
|
||
<span class="medgenPMjournal">Obes Rev</span>
|
||
2022 Jul;23(7):e13450.
|
||
Epub 2022 Apr 1
|
||
doi: 10.1111/obr.13450.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35362662" target="_blank">35362662</a><a href="/pmc/articles/PMC9286698" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30297484">RCC in cross ectopic kidney: a challenging diagnosis and management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Alfaseh A,
|
||
Ilaiwy A</span><br />
|
||
<span class="medgenPMjournal">BMJ Case Rep</span>
|
||
2018 Oct 7;2018
|
||
doi: 10.1136/bcr-2018-226879.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30297484" target="_blank">30297484</a><a href="/pmc/articles/PMC6194442" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29203188">Congenital Segmental Megaureter in an Ectopic Kidney.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Khanna A,
|
||
Mavuduru RS,
|
||
Bora GS,
|
||
Devana SK,
|
||
Mandal AK</span><br />
|
||
<span class="medgenPMjournal">Urology</span>
|
||
2018 Mar;113:e7-e8.
|
||
Epub 2017 Dec 1
|
||
doi: 10.1016/j.urology.2017.11.032.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29203188" target="_blank">29203188</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25367812">The "pancake" adrenal.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Planz VB,
|
||
Dyer RB</span><br />
|
||
<span class="medgenPMjournal">Abdom Imaging</span>
|
||
2015 Aug;40(6):2041-3.
|
||
doi: 10.1007/s00261-014-0287-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25367812" target="_blank">25367812</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8534782">Renal masses in the neonate.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pinto E,
|
||
Guignard JP</span><br />
|
||
<span class="medgenPMjournal">Biol Neonate</span>
|
||
1995;68(3):175-84.
|
||
doi: 10.1159/000244235.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8534782" target="_blank">8534782</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Ectopic%20kidney%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 (186)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35362662">Obesity-related glomerulopathy: Current approaches and future perspectives.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Martínez-Montoro JI,
|
||
Morales E,
|
||
Cornejo-Pareja I,
|
||
Tinahones FJ,
|
||
Fernández-García JC</span><br />
|
||
<span class="medgenPMjournal">Obes Rev</span>
|
||
2022 Jul;23(7):e13450.
|
||
Epub 2022 Apr 1
|
||
doi: 10.1111/obr.13450.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35362662" target="_blank">35362662</a><a href="/pmc/articles/PMC9286698" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32135560">An Encrusted Ureteral Stent Removed by Open Surgery in a Solitary Pelvic Ectopic Kidney (PEK) Patient Presented with Anuria and Renal Dysfunction: A Case Report.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pan Y,
|
||
Chen G,
|
||
Chen H,
|
||
Zhu Y,
|
||
Chen H</span><br />
|
||
<span class="medgenPMjournal">Aktuelle Urol</span>
|
||
2022 Dec;53(6):559-563.
|
||
Epub 2020 Mar 5
|
||
doi: 10.1055/a-1018-1449.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32135560" target="_blank">32135560</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31101967">Outcomes of ureteroscopy for stone disease in anomalous kidneys: a systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lavan L,
|
||
Herrmann T,
|
||
Netsch C,
|
||
Becker B,
|
||
Somani BK</span><br />
|
||
<span class="medgenPMjournal">World J Urol</span>
|
||
2020 May;38(5):1135-1146.
|
||
Epub 2019 May 17
|
||
doi: 10.1007/s00345-019-02810-x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31101967" target="_blank">31101967</a><a href="/pmc/articles/PMC7190593" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27012229">New findings in fetal valproate syndrome: hiatal hernia, gastric volvulus and ectopic kidney.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Arman D,
|
||
Sancak S,
|
||
Topcuoglu S,
|
||
Karatekin G</span><br />
|
||
<span class="medgenPMjournal">J Obstet Gynaecol</span>
|
||
2016 Aug;36(6):767-768.
|
||
Epub 2016 Mar 25
|
||
doi: 10.3109/01443615.2016.1159668.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27012229" target="_blank">27012229</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24903483">Deep renal ectopia causing sciatic mononeuropathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Assadsangabi R,
|
||
Hajmomenian M,
|
||
Nabavizadeh SA,
|
||
Vossough A</span><br />
|
||
<span class="medgenPMjournal">Childs Nerv Syst</span>
|
||
2014 Oct;30(10):1759-61.
|
||
Epub 2014 Jun 6
|
||
doi: 10.1007/s00381-014-2450-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24903483" target="_blank">24903483</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Ectopic%20kidney%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 (20)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/30446779">Ectopias of the kidney, urinary tract organs, and male genitalia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mikuz G</span><br />
|
||
<span class="medgenPMjournal">Pathologe</span>
|
||
2019 Jun;40(Suppl 1):1-8.
|
||
doi: 10.1007/s00292-018-0505-z.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30446779" target="_blank">30446779</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29203188">Congenital Segmental Megaureter in an Ectopic Kidney.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Khanna A,
|
||
Mavuduru RS,
|
||
Bora GS,
|
||
Devana SK,
|
||
Mandal AK</span><br />
|
||
<span class="medgenPMjournal">Urology</span>
|
||
2018 Mar;113:e7-e8.
|
||
Epub 2017 Dec 1
|
||
doi: 10.1016/j.urology.2017.11.032.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29203188" target="_blank">29203188</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26153383">Ectopic Intrathoracic Kidney Presenting as Recurrent Pneumonias in a 1-year-old Infant: A Case Report.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Langer FW,
|
||
dos Santos D,
|
||
Dartora EG,
|
||
Alves GR,
|
||
Haygert CJ</span><br />
|
||
<span class="medgenPMjournal">Lung</span>
|
||
2015 Oct;193(5):839-42.
|
||
Epub 2015 Jul 8
|
||
doi: 10.1007/s00408-015-9760-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26153383" target="_blank">26153383</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17867938">Pelvic kidney: associated diseases and treatment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cinman NM,
|
||
Okeke Z,
|
||
Smith AD</span><br />
|
||
<span class="medgenPMjournal">J Endourol</span>
|
||
2007 Aug;21(8):836-42.
|
||
doi: 10.1089/end.2007.9945.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17867938" target="_blank">17867938</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/12756361">Abdominal aortic aneurysm associated with crossed renal ectopia without fusion: case report and literature review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yano H,
|
||
Konagai N,
|
||
Maeda M,
|
||
Itoh M,
|
||
Kuwabara A,
|
||
Kudou T,
|
||
Ishimaru S</span><br />
|
||
<span class="medgenPMjournal">J Vasc Surg</span>
|
||
2003 May;37(5):1098-102.
|
||
doi: 10.1067/mva.2003.184.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12756361" target="_blank">12756361</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Ectopic%20kidney%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 (37)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37144307">The role of retrograde intrarenal surgery in kidney stones of upper urinary system anomalies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ozmerdiven G,
|
||
Güler Y,
|
||
Cicek C,
|
||
Gunseren KO,
|
||
Kilicarslan H</span><br />
|
||
<span class="medgenPMjournal">Folia Med (Plovdiv)</span>
|
||
2023 Apr 30;65(2):226-234.
|
||
doi: 10.3897/folmed.65.e77728.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37144307" target="_blank">37144307</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29735873">Bochdalek hernia and intrathoracic ectopic kidney: Presentation of two case reports and review of the literature.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sarac M,
|
||
Bakal U,
|
||
Tartar T,
|
||
Canpolat S,
|
||
Kara A,
|
||
Kazez A</span><br />
|
||
<span class="medgenPMjournal">Niger J Clin Pract</span>
|
||
2018 May;21(5):681-686.
|
||
doi: 10.4103/njcp.njcp_217_17.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29735873" target="_blank">29735873</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25288574">Flexible ureterorenoscopy for the treatment of kidney stone within pelvic ectopic kidney.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bozkurt OF,
|
||
Tepeler A,
|
||
Sninsky B,
|
||
Ozyuvali E,
|
||
Ziypak T,
|
||
Atis G,
|
||
Daggulli M,
|
||
Resorlu B,
|
||
Caskurlu T,
|
||
Unsal A</span><br />
|
||
<span class="medgenPMjournal">Urology</span>
|
||
2014 Dec;84(6):1285-9.
|
||
Epub 2014 Oct 5
|
||
doi: 10.1016/j.urology.2014.07.041.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25288574" target="_blank">25288574</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21222412">Left ectopic kidney with non rotation: a case report.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Reddy CK,
|
||
Syed NA,
|
||
Satyanarayana N,
|
||
Phukon MJ,
|
||
Dutta R,
|
||
Sunitha P,
|
||
Devi PS</span><br />
|
||
<span class="medgenPMjournal">Nepal Med Coll J</span>
|
||
2010 Jun;12(2):123-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21222412" target="_blank">21222412</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15117304">High prevalence of ectopic kidney in Coast Province, Kenya.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Magak P,
|
||
King CH,
|
||
Ireri E,
|
||
Kadzo H,
|
||
Ouma JH,
|
||
Muchiri EM</span><br />
|
||
<span class="medgenPMjournal">Trop Med Int Health</span>
|
||
2004 May;9(5):595-600.
|
||
doi: 10.1111/j.1365-3156.2004.01228.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15117304" target="_blank">15117304</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Ectopic%20kidney%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 (24)</a></div></div>
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<div class="nl"><a target="_blank" href="/pubmed/32298068">Active treatment of renal stones in pelvic ectopic kidney: systematic review of literature.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Salvi M,
|
||
Muto G,
|
||
Tuccio A,
|
||
Grosso AA,
|
||
Mari A,
|
||
Crisci A,
|
||
Carini M,
|
||
Minervini A</span><br />
|
||
<span class="medgenPMjournal">Minerva Urol Nefrol</span>
|
||
2020 Dec;72(6):691-697.
|
||
Epub 2020 Apr 16
|
||
doi: 10.23736/S0393-2249.20.03792-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32298068" target="_blank">32298068</a></div>
|
||
|
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<div class="nl"><a target="_blank" href="/pubmed/31101967">Outcomes of ureteroscopy for stone disease in anomalous kidneys: a systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lavan L,
|
||
Herrmann T,
|
||
Netsch C,
|
||
Becker B,
|
||
Somani BK</span><br />
|
||
<span class="medgenPMjournal">World J Urol</span>
|
||
2020 May;38(5):1135-1146.
|
||
Epub 2019 May 17
|
||
doi: 10.1007/s00345-019-02810-x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31101967" target="_blank">31101967</a><a href="/pmc/articles/PMC7190593" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Ectopic%20kidney%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 (2)</a></div></div>
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