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450 lines
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<span>> </span>
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<span>Nail-patella syndrome</span>
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<div><div class="rprt"><div class="page_header"><h1 class="margin_b0 margin_t0">Nail-patella syndrome</h1><dl><dt>Synonyms</dt><dd class="condition-synonyms"><span class="no-break">Arthro-Onychodysplasia</span>; <span class="no-break">FONG DISEASE</span>; <span class="no-break">NPS 1</span>; <span class="no-break">ONYCHOOSTEODYSPLASIA</span>; <span class="no-break">Osteo-Onychodysplasia</span>; <span class="no-break">TURNER-KIESER SYNDROME</span></dd><dl><dt>Modes of inheritance</dt><dd><a href="#mode-of-inh-2" data-jig="ncbipopper" data-jigconfig="hasArrow: true, openAnimation: 'none', closeAnimation: 'none', adjustFit: 'autoAdjust', triggerPosition: 'center right', destPosition: 'center left'">Autosomal dominant inheritance</a><div id="mode-of-inh-2" style="display: none;" class="mode-of-inh"><h4 class="margin_b0">Autosomal dominant inheritance</h4><span style="color:grey">MedGen UID: 141047, Concept ID: C0443147, Intellectual Product</span><p>Source: Orphanet</p><p>A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.</p></div> (Orphanet)</dd></dl></dl></div><div class="rprt-section gene-review-section"><div class="rprt-section-header"><h2>Summary</h2><span class="excerpt">Excerpted from the <span class="gene_reviews">GeneReview: </span><span class="link_heading"><a href="/books/NBK1132" ref="ncbi_uid=10257&link_uid=NBK1132/"><ArticleTitle book="gene" part="nail-ps">Nail-Patella Syndrome</ArticleTitle></a></span><br /></span></div><div class="rprt-section-body">Nail-patella syndrome (NPS) (previously referred to as Fong's disease), encompasses the classic clinical tetrad of changes in the nails, knees, and elbows, and the presence of iliac horns. Nail changes are the most constant feature of NPS. Nails may be absent, hypoplastic, or dystrophic; ridged longitudinally or horizontally; pitted; discolored; separated into two halves by a longitudinal cleft or ridge of skin; and thin or (less often) thickened. The patellae may be small, irregularly shaped, or absent. Elbow abnormalities may include limitation of extension, pronation, and supination; cubitus valgus; and antecubital pterygia. Iliac horns are bilateral, conical, bony processes that project posteriorly and laterally from the central part of the iliac bones of the pelvis. Renal involvement, first manifest as proteinuria with or without hematuria, occurs in 30%-50% of affected individuals; end-stage kidney disease occurs up to 15% of affected individuals. Primary open-angle glaucoma and ocular hypertension occur at increased frequency and at a younger age than in the general population.<dl class="gene-review-section-link"><dt><span class="fulltextgenereview">Full text of <span class="genereviewlinks">GeneReview</span> (by section):</span></dt><dd><a href="/books/n/gene/nail-ps/#nail-ps.Summary" ref="ncbi_uid=&link_uid=NBK1132">Summary</a></dd><dd><a href="/books/n/gene/nail-ps/#nail-ps.Diagnosis" ref="ncbi_uid=&link_uid=NBK1132">Diagnosis</a></dd><dd><a href="/books/n/gene/nail-ps/#nail-ps.Clinical_Characteristics" ref="ncbi_uid=&link_uid=NBK1132">Clinical Characteristics</a></dd><dd><a href="/books/n/gene/nail-ps/#nail-ps.Genetically_Related_Allelic_Diso" ref="ncbi_uid=&link_uid=NBK1132">Genetically Related (Allelic) Disorders</a></dd><dd><a href="/books/n/gene/nail-ps/#nail-ps.Differential_Diagnosis" ref="ncbi_uid=&link_uid=NBK1132">Differential Diagnosis</a></dd><dd><a href="/books/n/gene/nail-ps/#nail-ps.Management" ref="ncbi_uid=&link_uid=NBK1132">Management</a></dd><dd><a href="/books/n/gene/nail-ps/#nail-ps.Genetic_Counseling" ref="ncbi_uid=&link_uid=NBK1132">Genetic Counseling</a></dd><dd><a href="/books/n/gene/nail-ps/#nail-ps.Resources" ref="ncbi_uid=&link_uid=NBK1132">Resources</a></dd><dd><a href="/books/n/gene/nail-ps/#nail-ps.Molecular_Genetics" ref="ncbi_uid=&link_uid=NBK1132">Molecular Genetics</a></dd><dd><a href="/books/n/gene/nail-ps/#nail-ps.Chapter_Notes" ref="ncbi_uid=&link_uid=NBK1132">Chapter Notes</a></dd><dd><a href="/books/n/gene/nail-ps/#nail-ps.References" ref="ncbi_uid=&link_uid=NBK1132">References</a></dd></dl><dl class="gene-review-section-link"><dt><strong>Authors:</strong></dt><dd>Elizabeth Sweeney</dd><dd>Julie E Hoover-Fong</dd><dd>Iain McIntosh</dd><dd class="margin_l05" style="border-left: none;"><a href="/books/NBK1132/" ref="ncbi_uid=&link_uid=NBK1132" target="_blank">view full author information</a></dd></dl></div></div><div class="rprt-section available-tests"><div class="rprt-section-header"><h2>Available tests</h2><div class="header-extra">50 tests are in the database for this condition. <p class="margin_t0 margin_b0">Check <a href="#related-conditions">Related conditions</a> for additional relevant tests.</p></div></div><div class="rprt-section-body ui-helper-clearfix"><h3>Clinical tests <a href="/gtr/all/tests/?term=C0027341&filter=testtype:clinical">(50 available)</a></h3><div class="available-tests-1"><h4>Molecular Genetics Tests</h4><ul class="gtr-reset-list"><li><a href="/gtr/all/tests/?term=C0027341[DISCUI]&filter=method:2_7;testtype:clinical" ref="ncbi_uid=10257">Sequence analysis of the entire coding region (31) </a></li><li><a href="/gtr/all/tests/?term=C0027341[DISCUI]&filter=method:2_8;testtype:clinical" ref="ncbi_uid=10257">Deletion/duplication analysis (37) </a></li><li><a href="/gtr/all/tests/?term=C0027341[DISCUI]&filter=method:2_29;testtype:clinical" ref="ncbi_uid=10257">Detection of homozygosity (2) </a></li><li><a href="/gtr/all/tests/?term=C0027341[DISCUI]&filter=method:2_9;testtype:clinical" ref="ncbi_uid=10257">Sequence analysis of select exons (1) </a></li><li><a href="/gtr/all/tests/?term=C0027341[DISCUI]&filter=method:2_19;testtype:clinical" ref="ncbi_uid=10257">Targeted variant analysis (7) </a></li></ul></div></div></div><div class="rprt-section associated-genes" id="associated-genes"><h2>Genes <a href="/gtr/all/tests/?term=LMX1B[sym]">See tests for all associated and related genes</a></h2><div data-jig="ncbitabs"><ul><li><a href="#associated">Associated genes
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<a class="jig-ncbipopper ui-corner-all ui-icon ui-icon-help question-button " href="#associated-genes-tab" title="" data-jigconfig="hasArrow: true, openAnimation: 'none', closeAnimation: 'none', adjustFit: 'autoAdjust', triggerPosition: 'center right', destPosition: 'center left'">Help</a><div id="associated-genes-tab" class="help-tooltip" style=" display: none;"><ToolTips>Genes reported to contribute to the condition.</ToolTips></div></a></li></ul><div id="associated"><ul class="associate_genes gtr-reset-list"><li><div><h3><a href="/gtr/genes/4010" ref="ncbi_uid=10257&link_uid=4010">LMX1B</a></h3><a href="/gtr/all/tests/?term=4010[geneid]">103 tests</a></div><p class="margin_t0 associate_genes_det"><strong>Also known as: </strong><span>FSGS10, LMX1.2, NPS1, LMX1B</span><br /><strong>Summary: </strong>LIM homeobox transcription factor 1 beta</p></li></ul></div></div></div><div class="rprt-section" id="related-conditions"><div class="rprt-section-header"><div class="tooltip-wr"><h2 class="tab-heading">Related conditions</h2><a class="jig-ncbipopper ui-corner-all ui-icon ui-icon-help question-button" href="#popper_relatedcond" title="" data-jigconfig="hasArrow: true, openAnimation: 'none', closeAnimation: 'none', adjustFit: 'autoAdjust', triggerPosition: 'center right', destPosition: 'center left'">Help</a></div><span class="hide" id="popper_relatedcond">Explore related conditions in hierarchy to find additional content.</span><div class="header-extra"><div class="chiclet_legend margin_t05"><span class="chiclet_list" style="position:static;"><span class="chiclet blue round" title="Clinical test">C</span><span> Clinical
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test</span>, <span class="chiclet red round" title="Research test">R</span><span>
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Research test</span>, <span class="chiclet orange" title="OMIM">O</span><span>
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OMIM</span>, <span class="chiclet green" title="GeneReview">G</span><span><em>
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GeneReviews</em></span></span></div></div></div><div id="hierarchy" class="rprt-section-body"><div class="ds_tree"><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet blue round" title="Clinical test"><a href="/gtr/all/tests/?term=C0027341&filter=testtype:clinical" ref="ncbi_uid=10257">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet orange" title="OMIM"><a ref="ncbi_uid=10257" href="/omim/161200">O</a></span><span class="chiclet green" title="GeneReviews"><a href="/books/NBK1132/" ref="ncbi_uid=10257">G</a></span></span>Nail-patella syndrome</li></ul></div></div></div><div class="rprt-section"><div class="rprt-section-header"><div class="tooltip-wr"><h2 id="clinical-features">Clinical features</h2><a class="jig-ncbipopper ui-corner-all ui-icon ui-icon-help question-button " href="#clinicalfeatures" title="" data-jigconfig="hasArrow: true, openAnimation: 'none', closeAnimation: 'none', adjustFit: 'autoAdjust', triggerPosition: 'center right', destPosition: 'center left'">Help</a><span id="clinicalfeatures" class="help-tooltip hidden">List of clinical features of the condition/phenotype displayed from sources such as the Human Phenotype Ontology (HPO) and OMIM. For more information about the disease, please go to the disease information page.</span></div><div class="header-extra cf_disclaimer"><a href="https://hpo.jax.org/app/" class="external-link" target="_blank">Imported from Human Phenotype Ontology (HPO)</a></div></div><div class="rprt-section-body cft-container"><p class="cf-tools"><a href="#show-all-cf">Show all</a><a href="#hide-all-cf">Hide all</a></p><ul class="cf-cat gtr-reset-list"><li><a href="#cf-list-cat-1" class="jig-ncbitoggler">Abnormality of head or neck</a><ul class="cf-list-cat-item" id="cf-list-cat-1"><li><a href="#cf-list-cat-1-1" class="jig-ncbipopper" data-jigconfig="hasArrow: true, openAnimation: 'none', closeAnimation: 'none', adjustFit: 'autoAdjust', triggerPosition: 'center right', destPosition: 'center left'">Cleft palate</a><div id="cf-list-cat-1-1" class="hidden cf-popper-item-info"><h3>Cleft palate</h3><ul><li>MedGen UID: 756015</li><li>Concept ID: C2981150</li><li>Finding: Congenital Abnormality</li></ul><p>Abnormality of head or neck</p><p>See: <a href="/medgen/756015">Feature record</a> | <a href="/medgen/?term="Cleft palate"[Clinical Features] OR 756015[uid]">Search on this feature</a></p></div></li><li><a href="#cf-list-cat-1-2" class="jig-ncbipopper" data-jigconfig="hasArrow: true, openAnimation: 'none', closeAnimation: 'none', adjustFit: 'autoAdjust', triggerPosition: 'center right', destPosition: 'center left'">Cleft upper lip</a><div id="cf-list-cat-1-2" class="hidden cf-popper-item-info"><h3>Cleft upper lip</h3><ul><li>MedGen UID: 40327</li><li>Concept ID: C0008924</li><li>Finding: Congenital Abnormality</li></ul><p>Abnormality of head or neck</p><p>See: <a href="/medgen/40327">Feature record</a> | <a href="/medgen/?term="Cleft upper lip"[Clinical Features] OR 40327[uid]">Search on this feature</a></p></div></li></ul></li><li><a href="#cf-list-cat-2" class="jig-ncbitoggler">Abnormality of limbs</a><ul class="cf-list-cat-item" id="cf-list-cat-2"><li><a href="#cf-list-cat-2-1" class="jig-ncbipopper" data-jigconfig="hasArrow: true, openAnimation: 'none', closeAnimation: 'none', adjustFit: 'autoAdjust', triggerPosition: 'center right', destPosition: 'center left'">Absent distal interphalangeal creases</a><div id="cf-list-cat-2-1" class="hidden cf-popper-item-info"><h3>Absent distal interphalangeal creases</h3><ul><li>MedGen UID: 350011</li><li>Concept ID: C1861349</li><li>Finding: Finding</li></ul><p>Abnormality of limbs</p><p>See: <a href="/medgen/350011">Feature record</a> | <a href="/medgen/?term="Absent distal interphalangeal creases"[Clinical Features] OR 350011[uid]">Search on this feature</a></p></div></li><li><a href="#cf-list-cat-2-2" class="jig-ncbipopper" data-jigconfig="hasArrow: true, openAnimation: 'none', closeAnimation: 'none', adjustFit: 'autoAdjust', triggerPosition: 'center right', destPosition: 'center left'">Clinodactyly of the 5th finger</a><div id="cf-list-cat-2-2" class="hidden cf-popper-item-info"><h3>Clinodactyly of the 5th finger</h3><ul><li>MedGen UID: 340456</li><li>Concept ID: C1850049</li><li>Finding: Congenital Abnormality</li></ul><p>Abnormality of limbs</p><p>See: <a href="/medgen/340456">Feature record</a> | <a href="/medgen/?term="Clinodactyly of the 5th finger"[Clinical Features] OR 340456[uid]">Search on this feature</a></p></div></li><li><a href="#cf-list-cat-2-3" class="jig-ncbipopper" data-jigconfig="hasArrow: true, openAnimation: 'none', closeAnimation: 'none', adjustFit: 'autoAdjust', triggerPosition: 'center right', destPosition: 'center left'">Clubfoot</a><div id="cf-list-cat-2-3" class="hidden cf-popper-item-info"><h3>Clubfoot</h3><ul><li>MedGen UID: 3130</li><li>Concept ID: C0009081</li><li>Finding: Congenital Abnormality</li></ul><p>Abnormality of limbs</p><p>See: <a href="/medgen/3130">Feature record</a> | <a href="/medgen/?term="Clubfoot"[Clinical Features] OR 3130[uid]">Search on this feature</a></p></div></li><li><a href="#cf-list-cat-2-4" class="jig-ncbipopper" data-jigconfig="hasArrow: true, openAnimation: 'none', closeAnimation: 'none', adjustFit: 'autoAdjust', triggerPosition: 'center right', destPosition: 'center left'">Disproportionate prominence of the femoral medial condyle</a><div id="cf-list-cat-2-4" class="hidden cf-popper-item-info"><h3>Disproportionate prominence of the femoral medial condyle</h3><ul><li>MedGen UID: 320339</li><li>Concept ID: C1834392</li><li>Finding: Finding</li></ul><p>Abnormality of limbs</p><p>See: <a href="/medgen/320339">Feature record</a> | <a href="/medgen/?term="Disproportionate prominence of the femoral medial condyle"[Clinical Features] OR 320339[uid]">Search on this feature</a></p></div></li><li><a href="#cf-list-cat-2-5" class="jig-ncbipopper" data-jigconfig="hasArrow: true, openAnimation: 'none', closeAnimation: 'none', adjustFit: 'autoAdjust', triggerPosition: 'center right', destPosition: 'center left'">Elongated radius</a><div id="cf-list-cat-2-5" class="hidden cf-popper-item-info"><h3>Elongated radius</h3><ul><li>MedGen UID: 870599</li><li>Concept ID: C4025048</li><li>Finding: Anatomical Abnormality</li></ul><p>Abnormality of limbs</p><p>See: <a href="/medgen/870599">Feature record</a> | <a href="/medgen/?term="Elongated radius"[Clinical Features] OR 870599[uid]">Search on this feature</a></p></div></li><li><a href="#cf-list-cat-2-6" class="jig-ncbipopper" data-jigconfig="hasArrow: true, openAnimation: 'none', closeAnimation: 'none', adjustFit: 'autoAdjust', triggerPosition: 'center right', destPosition: 'center left'">Hypoplastic radial head</a><div id="cf-list-cat-2-6" class="hidden cf-popper-item-info"><h3>Hypoplastic radial head</h3><ul><li>MedGen UID: 867331</li><li>Concept ID: C4021695</li><li>Finding: Anatomical Abnormality</li></ul><p>Abnormality of limbs</p><p>See: <a href="/medgen/867331">Feature record</a> | <a href="/medgen/?term="Hypoplastic radial head"[Clinical Features] OR 867331[uid]">Search on this feature</a></p></div></li><li><a href="#cf-list-cat-2-7" class="jig-ncbipopper" data-jigconfig="hasArrow: true, openAnimation: 'none', closeAnimation: 'none', adjustFit: 'autoAdjust', triggerPosition: 'center right', destPosition: 'center left'">Limited elbow extension</a><div id="cf-list-cat-2-7" class="hidden cf-popper-item-info"><h3>Limited elbow extension</h3><ul><li>MedGen UID: 401158</li><li>Concept ID: C1867103</li><li>Finding: Finding</li></ul><p>Abnormality of limbs</p><p>See: <a href="/medgen/401158">Feature record</a> | <a href="/medgen/?term="Limited elbow extension"[Clinical Features] OR 401158[uid]">Search on this feature</a></p></div></li><li><a href="#cf-list-cat-2-8" class="jig-ncbipopper" data-jigconfig="hasArrow: true, openAnimation: 'none', closeAnimation: 'none', adjustFit: 'autoAdjust', triggerPosition: 'center right', destPosition: 'center left'">Patellar aplasia</a><div id="cf-list-cat-2-8" class="hidden cf-popper-item-info"><h3>Patellar aplasia</h3><ul><li>MedGen UID: 401474</li><li>Concept ID: C1868578</li><li>Finding: Congenital Abnormality</li></ul><p>Abnormality of limbs</p><p>See: <a href="/medgen/401474">Feature record</a> | <a href="/medgen/?term="Patellar aplasia"[Clinical Features] OR 401474[uid]">Search on this feature</a></p></div></li><li><a href="#cf-list-cat-2-9" class="jig-ncbipopper" data-jigconfig="hasArrow: true, openAnimation: 'none', closeAnimation: 'none', adjustFit: 'autoAdjust', triggerPosition: 'center right', destPosition: 'center left'">Patellar hypoplasia</a><div id="cf-list-cat-2-9" class="hidden cf-popper-item-info"><h3>Patellar hypoplasia</h3><ul><li>MedGen UID: 327021</li><li>Concept ID: C1840068</li><li>Finding: Finding</li></ul><p>Abnormality of limbs</p><p>See: <a href="/medgen/327021">Feature record</a> | <a href="/medgen/?term="Patellar hypoplasia"[Clinical Features] OR 327021[uid]">Search on this feature</a></p></div></li><li><a href="#cf-list-cat-2-10" class="jig-ncbipopper" data-jigconfig="hasArrow: true, openAnimation: 'none', closeAnimation: 'none', adjustFit: 'autoAdjust', triggerPosition: 'center right', destPosition: 'center left'">Pes planus</a><div id="cf-list-cat-2-10" class="hidden cf-popper-item-info"><h3>Pes planus</h3><ul><li>MedGen UID: 42034</li><li>Concept ID: C0016202</li><li>Finding: Anatomical Abnormality</li></ul><p>Abnormality of limbs</p><p>See: <a href="/medgen/42034">Feature record</a> | <a href="/medgen/?term="Pes planus"[Clinical Features] OR 42034[uid]">Search on this feature</a></p></div></li></ul></li><li><a href="#cf-list-cat-3" class="jig-ncbitoggler">Abnormality of the eye</a><ul class="cf-list-cat-item" id="cf-list-cat-3"><li><a href="#cf-list-cat-3-1" class="jig-ncbipopper" data-jigconfig="hasArrow: true, openAnimation: 'none', closeAnimation: 'none', adjustFit: 'autoAdjust', triggerPosition: 'center right', destPosition: 'center left'">Cataract</a><div id="cf-list-cat-3-1" class="hidden cf-popper-item-info"><h3>Cataract</h3><ul><li>MedGen UID: 39462</li><li>Concept ID: C0086543</li><li>Finding: Disease or Syndrome</li></ul><p>Abnormality of the eye</p><p>See: <a href="/medgen/39462">Feature record</a> | <a href="/medgen/?term="Cataract"[Clinical Features] OR 39462[uid]">Search on this feature</a></p></div></li><li><a href="#cf-list-cat-3-2" class="jig-ncbipopper" data-jigconfig="hasArrow: true, openAnimation: 'none', closeAnimation: 'none', adjustFit: 'autoAdjust', triggerPosition: 'center right', destPosition: 'center left'">Glaucoma</a><div id="cf-list-cat-3-2" class="hidden cf-popper-item-info"><h3>Glaucoma</h3><ul><li>MedGen UID: 42224</li><li>Concept ID: C0017601</li><li>Finding: Disease or Syndrome</li></ul><p>Abnormality of the eye</p><p>See: <a href="/medgen/42224">Feature record</a> | <a href="/medgen/?term="Glaucoma"[Clinical Features] OR 42224[uid]">Search on this feature</a></p></div></li><li><a href="#cf-list-cat-3-3" class="jig-ncbipopper" data-jigconfig="hasArrow: true, openAnimation: 'none', closeAnimation: 'none', adjustFit: 'autoAdjust', triggerPosition: 'center right', destPosition: 'center left'">Keratoconus</a><div id="cf-list-cat-3-3" class="hidden cf-popper-item-info"><h3>Keratoconus</h3><ul><li>MedGen UID: 44015</li><li>Concept ID: C0022578</li><li>Finding: Disease or Syndrome</li></ul><p>Abnormality of the eye</p><p>See: <a href="/medgen/44015">Feature record</a> | <a href="/medgen/?term="Keratoconus"[Clinical Features] OR 44015[uid]">Search on this feature</a></p></div></li><li><a href="#cf-list-cat-3-4" class="jig-ncbipopper" data-jigconfig="hasArrow: true, openAnimation: 'none', closeAnimation: 'none', adjustFit: 'autoAdjust', triggerPosition: 'center right', destPosition: 'center left'">Lester sign</a><div id="cf-list-cat-3-4" class="hidden cf-popper-item-info"><h3>Lester sign</h3><ul><li>MedGen UID: 869781</li><li>Concept ID: C4024210</li><li>Finding: Finding</li></ul><p>Abnormality of the eye</p><p>See: <a href="/medgen/869781">Feature record</a> | <a href="/medgen/?term="Lester sign"[Clinical Features] OR 869781[uid]">Search on this feature</a></p></div></li><li><a href="#cf-list-cat-3-5" class="jig-ncbipopper" data-jigconfig="hasArrow: true, openAnimation: 'none', closeAnimation: 'none', adjustFit: 'autoAdjust', triggerPosition: 'center right', destPosition: 'center left'">Microcornea</a><div id="cf-list-cat-3-5" class="hidden cf-popper-item-info"><h3>Microcornea</h3><ul><li>MedGen UID: 78610</li><li>Concept ID: C0266544</li><li>Finding: Congenital Abnormality</li></ul><p>Abnormality of the eye</p><p>See: <a href="/medgen/78610">Feature record</a> | <a href="/medgen/?term="Microcornea"[Clinical Features] OR 78610[uid]">Search on this feature</a></p></div></li><li><a href="#cf-list-cat-3-6" class="jig-ncbipopper" data-jigconfig="hasArrow: true, openAnimation: 'none', closeAnimation: 'none', adjustFit: 'autoAdjust', triggerPosition: 'center right', destPosition: 'center left'">Microphakia</a><div id="cf-list-cat-3-6" class="hidden cf-popper-item-info"><h3>Microphakia</h3><ul><li>MedGen UID: 78609</li><li>Concept ID: C0266541</li><li>Finding: Congenital Abnormality</li></ul><p>Abnormality of the eye</p><p>See: <a href="/medgen/78609">Feature record</a> | <a href="/medgen/?term="Microphakia"[Clinical Features] OR 78609[uid]">Search on this feature</a></p></div></li><li><a href="#cf-list-cat-3-7" class="jig-ncbipopper" data-jigconfig="hasArrow: true, openAnimation: 'none', closeAnimation: 'none', adjustFit: 'autoAdjust', triggerPosition: 'center right', destPosition: 'center left'">Ptosis</a><div id="cf-list-cat-3-7" class="hidden cf-popper-item-info"><h3>Ptosis</h3><ul><li>MedGen UID: 2287</li><li>Concept ID: C0005745</li><li>Finding: Disease or Syndrome</li></ul><p>Abnormality of the eye</p><p>See: <a href="/medgen/2287">Feature record</a> | <a href="/medgen/?term="Ptosis"[Clinical Features] OR 2287[uid]">Search on this feature</a></p></div></li></ul></li><li><a href="#cf-list-cat-4" class="jig-ncbitoggler">Abnormality of the genitourinary system</a><ul class="cf-list-cat-item" id="cf-list-cat-4"><li><a href="#cf-list-cat-4-1" class="jig-ncbipopper" data-jigconfig="hasArrow: true, openAnimation: 'none', closeAnimation: 'none', adjustFit: 'autoAdjust', triggerPosition: 'center right', destPosition: 'center left'">Hematuria</a><div id="cf-list-cat-4-1" class="hidden cf-popper-item-info"><h3>Hematuria</h3><ul><li>MedGen UID: 5488</li><li>Concept ID: C0018965</li><li>Finding: Disease or Syndrome</li></ul><p>Abnormality of the genitourinary system</p><p>See: <a href="/medgen/5488">Feature record</a> | <a href="/medgen/?term="Hematuria"[Clinical Features] OR 5488[uid]">Search on this feature</a></p></div></li><li><a href="#cf-list-cat-4-2" class="jig-ncbipopper" data-jigconfig="hasArrow: true, openAnimation: 'none', closeAnimation: 'none', adjustFit: 'autoAdjust', triggerPosition: 'center right', destPosition: 'center left'">Nephrotic syndrome</a><div id="cf-list-cat-4-2" class="hidden cf-popper-item-info"><h3>Nephrotic syndrome</h3><ul><li>MedGen UID: 10308</li><li>Concept ID: C0027726</li><li>Finding: Disease or Syndrome</li></ul><p>Abnormality of the genitourinary system</p><p>See: <a href="/medgen/10308">Feature record</a> | <a href="/medgen/?term="Nephrotic syndrome"[Clinical Features] OR 10308[uid]">Search on this feature</a></p></div></li><li><a href="#cf-list-cat-4-3" class="jig-ncbipopper" data-jigconfig="hasArrow: true, openAnimation: 'none', closeAnimation: 'none', adjustFit: 'autoAdjust', triggerPosition: 'center right', destPosition: 'center left'">Proteinuria</a><div id="cf-list-cat-4-3" class="hidden cf-popper-item-info"><h3>Proteinuria</h3><ul><li>MedGen UID: 10976</li><li>Concept ID: C0033687</li><li>Finding: Finding</li></ul><p>Abnormality of the genitourinary system</p><p>See: <a href="/medgen/10976">Feature record</a> | <a href="/medgen/?term="Proteinuria"[Clinical Features] OR 10976[uid]">Search on this feature</a></p></div></li><li><a href="#cf-list-cat-4-4" class="jig-ncbipopper" data-jigconfig="hasArrow: true, openAnimation: 'none', closeAnimation: 'none', adjustFit: 'autoAdjust', triggerPosition: 'center right', destPosition: 'center left'">Renal insufficiency</a><div id="cf-list-cat-4-4" class="hidden cf-popper-item-info"><h3>Renal insufficiency</h3><ul><li>MedGen UID: 332529</li><li>Concept ID: C1565489</li><li>Finding: Disease or Syndrome</li></ul><p>Abnormality of the genitourinary system</p><p>See: <a href="/medgen/332529">Feature record</a> | <a href="/medgen/?term="Renal insufficiency"[Clinical Features] OR 332529[uid]">Search on this feature</a></p></div></li></ul></li><li><a href="#cf-list-cat-5" class="jig-ncbitoggler">Abnormality of the immune system</a><ul class="cf-list-cat-item" id="cf-list-cat-5"><li><a href="#cf-list-cat-5-1" class="jig-ncbipopper" data-jigconfig="hasArrow: true, openAnimation: 'none', closeAnimation: 'none', adjustFit: 'autoAdjust', triggerPosition: 'center right', destPosition: 'center left'">Glomerulonephritis</a><div id="cf-list-cat-5-1" class="hidden cf-popper-item-info"><h3>Glomerulonephritis</h3><ul><li>MedGen UID: 6616</li><li>Concept ID: C0017658</li><li>Finding: Disease or Syndrome</li></ul><p>Abnormality of the immune system</p><p>See: <a href="/medgen/6616">Feature record</a> | <a href="/medgen/?term="Glomerulonephritis"[Clinical Features] OR 6616[uid]">Search on this feature</a></p></div></li></ul></li><li><a href="#cf-list-cat-6" class="jig-ncbitoggler">Abnormality of the integument</a><ul class="cf-list-cat-item" id="cf-list-cat-6"><li><a href="#cf-list-cat-6-1" class="jig-ncbipopper" data-jigconfig="hasArrow: true, openAnimation: 'none', closeAnimation: 'none', adjustFit: 'autoAdjust', triggerPosition: 'center right', destPosition: 'center left'">Anonychia</a><div id="cf-list-cat-6-1" class="hidden cf-popper-item-info"><h3>Anonychia</h3><ul><li>MedGen UID: 120563</li><li>Concept ID: C0265998</li><li>Finding: Congenital Abnormality</li></ul><p>Abnormality of the integument</p><p>See: <a href="/medgen/120563">Feature record</a> | <a href="/medgen/?term="Anonychia"[Clinical Features] OR 120563[uid]">Search on this feature</a></p></div></li><li><a href="#cf-list-cat-6-2" class="jig-ncbipopper" data-jigconfig="hasArrow: true, openAnimation: 'none', closeAnimation: 'none', adjustFit: 'autoAdjust', triggerPosition: 'center right', destPosition: 'center left'">Antecubital pterygium syndrome</a><div id="cf-list-cat-6-2" class="hidden cf-popper-item-info"><h3>Antecubital pterygium syndrome</h3><ul><li>MedGen UID: 401231</li><li>Concept ID: C1867439</li><li>Finding: Disease or Syndrome</li></ul><p>Abnormality of the integument</p><p>See: <a href="/medgen/401231">Feature record</a> | <a href="/medgen/?term="Antecubital pterygium syndrome"[Clinical Features] OR 401231[uid]">Search on this feature</a></p></div></li><li><a href="#cf-list-cat-6-3" class="jig-ncbipopper" data-jigconfig="hasArrow: true, openAnimation: 'none', closeAnimation: 'none', adjustFit: 'autoAdjust', triggerPosition: 'center right', destPosition: 'center left'">Concave nail</a><div id="cf-list-cat-6-3" class="hidden cf-popper-item-info"><h3>Concave nail</h3><ul><li>MedGen UID: 66369</li><li>Concept ID: C0221261</li><li>Finding: Finding</li></ul><p>Abnormality of the integument</p><p>See: <a href="/medgen/66369">Feature record</a> | <a href="/medgen/?term="Concave nail"[Clinical Features] OR 66369[uid]">Search on this feature</a></p></div></li><li><a href="#cf-list-cat-6-4" class="jig-ncbipopper" data-jigconfig="hasArrow: true, openAnimation: 'none', closeAnimation: 'none', adjustFit: 'autoAdjust', triggerPosition: 'center right', destPosition: 'center left'">Ridged nail</a><div id="cf-list-cat-6-4" class="hidden cf-popper-item-info"><h3>Ridged nail</h3><ul><li>MedGen UID: 140853</li><li>Concept ID: C0423820</li><li>Finding: Finding</li></ul><p>Abnormality of the integument</p><p>See: <a href="/medgen/140853">Feature record</a> | <a href="/medgen/?term="Ridged nail"[Clinical Features] OR 140853[uid]">Search on this feature</a></p></div></li></ul></li><li><a href="#cf-list-cat-7" class="jig-ncbitoggler">Abnormality of the musculoskeletal system</a><ul class="cf-list-cat-item" id="cf-list-cat-7"><li><a href="#cf-list-cat-7-1" class="jig-ncbipopper" data-jigconfig="hasArrow: true, openAnimation: 'none', closeAnimation: 'none', adjustFit: 'autoAdjust', triggerPosition: 'center right', destPosition: 'center left'">Absence of pectoralis minor muscle</a><div id="cf-list-cat-7-1" class="hidden cf-popper-item-info"><h3>Absence of pectoralis minor muscle</h3><ul><li>MedGen UID: 401383</li><li>Concept ID: C1868158</li><li>Finding: Finding</li></ul><p>Abnormality of the musculoskeletal system</p><p>See: <a href="/medgen/401383">Feature record</a> | <a href="/medgen/?term="Absence of pectoralis minor muscle"[Clinical Features] OR 401383[uid]">Search on this feature</a></p></div></li><li><a href="#cf-list-cat-7-2" class="jig-ncbipopper" data-jigconfig="hasArrow: true, openAnimation: 'none', closeAnimation: 'none', adjustFit: 'autoAdjust', triggerPosition: 'center right', destPosition: 'center left'">Biceps aplasia</a><div id="cf-list-cat-7-2" class="hidden cf-popper-item-info"><h3>Biceps aplasia</h3><ul><li>MedGen UID: 812094</li><li>Concept ID: C3805764</li><li>Finding: Finding</li></ul><p>Abnormality of the musculoskeletal system</p><p>See: <a href="/medgen/812094">Feature record</a> | <a href="/medgen/?term="Biceps aplasia"[Clinical Features] OR 812094[uid]">Search on this feature</a></p></div></li><li><a href="#cf-list-cat-7-3" class="jig-ncbipopper" data-jigconfig="hasArrow: true, openAnimation: 'none', closeAnimation: 'none', adjustFit: 'autoAdjust', triggerPosition: 'center right', destPosition: 'center left'">Glenoid fossa hypoplasia</a><div id="cf-list-cat-7-3" class="hidden cf-popper-item-info"><h3>Glenoid fossa hypoplasia</h3><ul><li>MedGen UID: 331731</li><li>Concept ID: C1834384</li><li>Finding: Finding</li></ul><p>Abnormality of the musculoskeletal system</p><p>See: <a href="/medgen/331731">Feature record</a> | <a href="/medgen/?term="Glenoid fossa hypoplasia"[Clinical Features] OR 331731[uid]">Search on this feature</a></p></div></li><li><a href="#cf-list-cat-7-4" class="jig-ncbipopper" data-jigconfig="hasArrow: true, openAnimation: 'none', closeAnimation: 'none', adjustFit: 'autoAdjust', triggerPosition: 'center right', destPosition: 'center left'">Hypoplasia of first ribs</a><div id="cf-list-cat-7-4" class="hidden cf-popper-item-info"><h3>Hypoplasia of first ribs</h3><ul><li>MedGen UID: 331732</li><li>Concept ID: C1834386</li><li>Finding: Congenital Abnormality</li></ul><p>Abnormality of the musculoskeletal system</p><p>See: <a href="/medgen/331732">Feature record</a> | <a href="/medgen/?term="Hypoplasia of first ribs"[Clinical Features] OR 331732[uid]">Search on this feature</a></p></div></li><li><a href="#cf-list-cat-7-5" class="jig-ncbipopper" data-jigconfig="hasArrow: true, openAnimation: 'none', closeAnimation: 'none', adjustFit: 'autoAdjust', triggerPosition: 'center right', destPosition: 'center left'">Iliac horns</a><div id="cf-list-cat-7-5" class="hidden cf-popper-item-info"><h3>Iliac horns</h3><ul><li>MedGen UID: 120492</li><li>Concept ID: C0263925</li><li>Finding: Finding</li></ul><p>Abnormality of the musculoskeletal system</p><p>See: <a href="/medgen/120492">Feature record</a> | <a href="/medgen/?term="Iliac horns"[Clinical Features] OR 120492[uid]">Search on this feature</a></p></div></li><li><a href="#cf-list-cat-7-6" class="jig-ncbipopper" data-jigconfig="hasArrow: true, openAnimation: 'none', closeAnimation: 'none', adjustFit: 'autoAdjust', triggerPosition: 'center right', destPosition: 'center left'">Lumbar hyperlordosis</a><div id="cf-list-cat-7-6" class="hidden cf-popper-item-info"><h3>Lumbar hyperlordosis</h3><ul><li>MedGen UID: 263149</li><li>Concept ID: C1184923</li><li>Finding: Finding</li></ul><p>Abnormality of the musculoskeletal system</p><p>See: <a href="/medgen/263149">Feature record</a> | <a href="/medgen/?term="Lumbar hyperlordosis"[Clinical Features] OR 263149[uid]">Search on this feature</a></p></div></li><li><a href="#cf-list-cat-7-7" class="jig-ncbipopper" data-jigconfig="hasArrow: true, openAnimation: 'none', closeAnimation: 'none', adjustFit: 'autoAdjust', triggerPosition: 'center right', destPosition: 'center left'">Patellar dislocation</a><div id="cf-list-cat-7-7" class="hidden cf-popper-item-info"><h3>Patellar dislocation</h3><ul><li>MedGen UID: 253896</li><li>Concept ID: C1135812</li><li>Finding: Injury or Poisoning</li></ul><p>Abnormality of the musculoskeletal system</p><p>See: <a href="/medgen/253896">Feature record</a> | <a href="/medgen/?term="Patellar dislocation"[Clinical Features] OR 253896[uid]">Search on this feature</a></p></div></li><li><a href="#cf-list-cat-7-8" class="jig-ncbipopper" data-jigconfig="hasArrow: true, openAnimation: 'none', closeAnimation: 'none', adjustFit: 'autoAdjust', triggerPosition: 'center right', destPosition: 'center left'">Pectus excavatum</a><div id="cf-list-cat-7-8" class="hidden cf-popper-item-info"><h3>Pectus excavatum</h3><ul><li>MedGen UID: 781174</li><li>Concept ID: C2051831</li><li>Finding: Finding</li></ul><p>Abnormality of the musculoskeletal system</p><p>See: <a href="/medgen/781174">Feature record</a> | <a href="/medgen/?term="Pectus excavatum"[Clinical Features] OR 781174[uid]">Search on this feature</a></p></div></li><li><a href="#cf-list-cat-7-9" class="jig-ncbipopper" data-jigconfig="hasArrow: true, openAnimation: 'none', closeAnimation: 'none', adjustFit: 'autoAdjust', triggerPosition: 'center right', destPosition: 'center left'">Quadriceps aplasia</a><div id="cf-list-cat-7-9" class="hidden cf-popper-item-info"><h3>Quadriceps aplasia</h3><ul><li>MedGen UID: 812095</li><li>Concept ID: C3805765</li><li>Finding: Finding</li></ul><p>Abnormality of the musculoskeletal system</p><p>See: <a href="/medgen/812095">Feature record</a> | <a href="/medgen/?term="Quadriceps aplasia"[Clinical Features] OR 812095[uid]">Search on this feature</a></p></div></li><li><a href="#cf-list-cat-7-10" class="jig-ncbipopper" data-jigconfig="hasArrow: true, openAnimation: 'none', closeAnimation: 'none', adjustFit: 'autoAdjust', triggerPosition: 'center right', destPosition: 'center left'">Scoliosis</a><div id="cf-list-cat-7-10" class="hidden cf-popper-item-info"><h3>Scoliosis</h3><ul><li>MedGen UID: 11348</li><li>Concept ID: C0036439</li><li>Finding: Disease or Syndrome</li></ul><p>Abnormality of the musculoskeletal system</p><p>See: <a href="/medgen/11348">Feature record</a> | <a href="/medgen/?term="Scoliosis"[Clinical Features] OR 11348[uid]">Search on this feature</a></p></div></li><li><a href="#cf-list-cat-7-11" class="jig-ncbipopper" data-jigconfig="hasArrow: true, openAnimation: 'none', closeAnimation: 'none', adjustFit: 'autoAdjust', triggerPosition: 'center right', destPosition: 'center left'">Thickening of the lateral border of the scapula</a><div id="cf-list-cat-7-11" class="hidden cf-popper-item-info"><h3>Thickening of the lateral border of the scapula</h3><ul><li>MedGen UID: 322404</li><li>Concept ID: C1834383</li><li>Finding: Finding</li></ul><p>Abnormality of the musculoskeletal system</p><p>See: <a href="/medgen/322404">Feature record</a> | <a href="/medgen/?term="Thickening of the lateral border of the scapula"[Clinical Features] OR 322404[uid]">Search on this feature</a></p></div></li><li><a href="#cf-list-cat-7-12" class="jig-ncbipopper" data-jigconfig="hasArrow: true, openAnimation: 'none', closeAnimation: 'none', adjustFit: 'autoAdjust', triggerPosition: 'center right', destPosition: 'center left'">Triceps aplasia</a><div id="cf-list-cat-7-12" class="hidden cf-popper-item-info"><h3>Triceps aplasia</h3><ul><li>MedGen UID: 816814</li><li>Concept ID: C3810484</li><li>Finding: Finding</li></ul><p>Abnormality of the musculoskeletal system</p><p>See: <a href="/medgen/816814">Feature record</a> | <a href="/medgen/?term="Triceps aplasia"[Clinical Features] OR 816814[uid]">Search on this feature</a></p></div></li></ul></li><li><a href="#cf-list-cat-8" class="jig-ncbitoggler">Abnormality of the nervous system</a><ul class="cf-list-cat-item" id="cf-list-cat-8"><li><a href="#cf-list-cat-8-1" class="jig-ncbipopper" data-jigconfig="hasArrow: true, openAnimation: 'none', closeAnimation: 'none', adjustFit: 'autoAdjust', triggerPosition: 'center right', destPosition: 'center left'">Spina bifida</a><div id="cf-list-cat-8-1" class="hidden cf-popper-item-info"><h3>Spina bifida</h3><ul><li>MedGen UID: 38283</li><li>Concept ID: C0080178</li><li>Finding: Congenital Abnormality</li></ul><p>Abnormality of the nervous system</p><p>See: <a href="/medgen/38283">Feature record</a> | <a href="/medgen/?term="Spina bifida"[Clinical Features] OR 38283[uid]">Search on this feature</a></p></div></li></ul></li><li><a href="#cf-list-cat-9" class="jig-ncbitoggler">Constitutional symptom</a><ul class="cf-list-cat-item" id="cf-list-cat-9"><li><a href="#cf-list-cat-9-1" class="jig-ncbipopper" data-jigconfig="hasArrow: true, openAnimation: 'none', closeAnimation: 'none', adjustFit: 'autoAdjust', triggerPosition: 'center right', destPosition: 'center left'">Back pain</a><div id="cf-list-cat-9-1" class="hidden cf-popper-item-info"><h3>Back pain</h3><ul><li>MedGen UID: 2530</li><li>Concept ID: C0004604</li><li>Finding: Sign or Symptom</li></ul><p>Constitutional symptom</p><p>See: <a href="/medgen/2530">Feature record</a> | <a href="/medgen/?term="Back pain"[Clinical Features] OR 2530[uid]">Search on this feature</a></p></div></li></ul></li><li><a href="#cf-list-cat-10" class="jig-ncbitoggler">Ear malformation</a><ul class="cf-list-cat-item" id="cf-list-cat-10"><li><a href="#cf-list-cat-10-1" class="jig-ncbipopper" data-jigconfig="hasArrow: true, openAnimation: 'none', closeAnimation: 'none', adjustFit: 'autoAdjust', triggerPosition: 'center right', destPosition: 'center left'">Sensorineural hearing loss disorder</a><div id="cf-list-cat-10-1" class="hidden cf-popper-item-info"><h3>Sensorineural hearing loss disorder</h3><ul><li>MedGen UID: 9164</li><li>Concept ID: C0018784</li><li>Finding: Disease or Syndrome</li></ul><p>Ear malformation</p><p>See: <a href="/medgen/9164">Feature record</a> | <a href="/medgen/?term="Sensorineural hearing loss disorder"[Clinical Features] OR 9164[uid]">Search on this feature</a></p></div></li></ul></li><li><a href="#cf-list-cat-11" class="jig-ncbitoggler">Growth abnormality</a><ul class="cf-list-cat-item" id="cf-list-cat-11"><li><a href="#cf-list-cat-11-1" class="jig-ncbipopper" data-jigconfig="hasArrow: true, openAnimation: 'none', closeAnimation: 'none', adjustFit: 'autoAdjust', triggerPosition: 'center right', destPosition: 'center left'">Short stature</a><div id="cf-list-cat-11-1" class="hidden cf-popper-item-info"><h3>Short stature</h3><ul><li>MedGen UID: 87607</li><li>Concept ID: C0349588</li><li>Finding: Finding</li></ul><p>Growth abnormality</p><p>See: <a href="/medgen/87607">Feature record</a> | <a href="/medgen/?term="Short stature"[Clinical Features] OR 87607[uid]">Search on this feature</a></p></div></li></ul></li></ul></div></div></div></div>
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