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<!--
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UID=867418
|
||
ConceptID=C4021790
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Abnormality of the skeletal system</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>867418</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.">C4021790</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>Skeletal abnormalities; Skeletal anomalies</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>HPO:</td>
|
||
<td><a target="_blank" title="Human Phenotype Ontology" href="https://hpo.jax.org/app/browse/term/HP:0000924">HP:0000924</a></td></tr>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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||
<div class="portlet_content ln">An abnormality of the skeletal system. [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>
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<div class="portlet mgSection" id="ID_118">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C4021790[DISCUI]&test_type=Clinical" ref="ncbi_uid=867418">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 Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=867418" ref="ncbi_uid=867418">V</a></span></span><span class="TLline">Abnormality of the skeletal system</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/867443" ref="tree=MeSH" title="MedGen record for Phenotypic abnormality">Phenotypic abnormality</a></span><ul><li><span class="TLline"><a href="/medgen/1763488" ref="tree=MeSH" title="MedGen record for Abnormality of the musculoskeletal system">Abnormality of the musculoskeletal system</a></span><ul><li><span class="matched_ds">Abnormality of the skeletal system</span><ul><li><span class="TLline"><a href="/medgen/868760" ref="tree=MeSH" title="MedGen record for Abnormal skeletal morphology">Abnormal skeletal morphology</a></span><ul><li><span class="TLline"><a href="/medgen/868758" ref="tree=MeSH" title="MedGen record for Abnormal appendicular skeleton morphology">Abnormal appendicular skeleton morphology</a></span><ul><li><span class="TLline"><a href="/medgen/866811" ref="tree=MeSH" title="MedGen record for Abnormal long bone morphology">Abnormal long bone morphology</a></span></li><li><span class="TLline"><a href="/medgen/866545" ref="tree=MeSH" title="MedGen record for Abnormal pelvic girdle bone morphology">Abnormal pelvic girdle bone morphology</a></span></li><li><span class="TLline"><a href="/medgen/871182" ref="tree=MeSH" title="MedGen record for Abnormal shoulder morphology">Abnormal shoulder morphology</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/892434" ref="tree=MeSH" title="MedGen record for Abnormal axial skeleton morphology">Abnormal axial skeleton morphology</a></span><ul><li><span class="TLline"><a href="/medgen/488801" ref="tree=MeSH" title="MedGen record for Abnormal skull morphology">Abnormal skull morphology</a></span></li><li><span class="TLline"><a href="/medgen/867424" ref="tree=MeSH" title="MedGen record for Abnormal thorax morphology">Abnormal thorax morphology</a></span></li><li><span class="TLline"><a href="/medgen/892426" ref="tree=MeSH" title="MedGen record for Abnormality of the vertebral column">Abnormality of the vertebral column</a></span></li><li><span class="TLline"><a href="/medgen/870153" ref="tree=MeSH" title="MedGen record for Aplasia/hypoplasia affecting bones of the axial skeleton">Aplasia/hypoplasia affecting bones of the axial skeleton</a></span></li><li><span class="TLline"><a href="/medgen/337580" ref="tree=MeSH" title="MedGen record for Disproportionate short-trunk short stature">Disproportionate short-trunk short stature</a></span></li><li><span class="TLline"><a href="/medgen/870141" ref="tree=MeSH" title="MedGen record for Supernumerary bones of the axial skeleton">Supernumerary bones of the axial skeleton</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/871157" ref="tree=MeSH" title="MedGen record for Abnormal bone structure">Abnormal bone structure</a></span><ul><li><span class="TLline"><a href="/medgen/868753" ref="tree=MeSH" title="MedGen record for Abnormal bone collagen fibril morphology">Abnormal bone collagen fibril morphology</a></span></li><li><span class="TLline"><a href="/medgen/868756" ref="tree=MeSH" title="MedGen record for Abnormal bone ossification">Abnormal bone ossification</a></span></li><li><span class="TLline"><a href="/medgen/867376" ref="tree=MeSH" title="MedGen record for Abnormal cortical bone morphology">Abnormal cortical bone morphology</a></span></li><li><span class="TLline"><a href="/medgen/868117" ref="tree=MeSH" title="MedGen record for Abnormal osteoclast count">Abnormal osteoclast count</a></span></li><li><span class="TLline"><a href="/medgen/866611" ref="tree=MeSH" title="MedGen record for Abnormal trabecular bone morphology">Abnormal trabecular bone morphology</a></span></li><li><span class="TLline"><a href="/medgen/2696" ref="tree=MeSH" title="MedGen record for Bone cyst">Bone cyst</a></span></li><li><span class="TLline"><a href="/medgen/10493" ref="tree=MeSH" title="MedGen record for Bone Paget disease">Bone Paget disease</a></span></li><li><span class="TLline"><a href="/medgen/871004" ref="tree=MeSH" title="MedGen record for Constricted radius">Constricted radius</a></span></li><li><span class="TLline"><a href="/medgen/341491" ref="tree=MeSH" title="MedGen record for Dysplastic patella">Dysplastic patella</a></span></li><li><span class="TLline"><a href="/medgen/120444" ref="tree=MeSH" title="MedGen record for Fibrous dysplasia">Fibrous dysplasia</a></span></li><li><span class="TLline"><a href="/medgen/1648424" ref="tree=MeSH" title="MedGen record for Osteolysis">Osteolysis</a></span></li><li><span class="TLline"><a href="/medgen/870597" ref="tree=MeSH" title="MedGen record for Radial dysplasia">Radial dysplasia</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/871202" ref="tree=MeSH" title="MedGen record for Abnormal cartilage morphology">Abnormal cartilage morphology</a></span><ul><li><span class="TLline"><a href="/medgen/893096" ref="tree=MeSH" title="MedGen record for Abnormal cartilage collagen">Abnormal cartilage collagen</a></span></li><li><span class="TLline"><a href="/medgen/870280" ref="tree=MeSH" title="MedGen record for Abnormal cartilage matrix">Abnormal cartilage matrix</a></span></li><li><span class="TLline"><a href="/medgen/1714402" ref="tree=MeSH" title="MedGen record for Abnormal chondrocyte morphology">Abnormal chondrocyte morphology</a></span></li><li><span class="TLline"><a href="/medgen/893000" ref="tree=MeSH" title="MedGen record for Abnormal external ear cartilage morphology">Abnormal external ear cartilage morphology</a></span></li><li><span class="TLline"><a href="/medgen/867588" ref="tree=MeSH" title="MedGen record for Cartilage destruction">Cartilage destruction</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1369244" ref="tree=MeSH" title="MedGen record for Abnormal growth plate morphology">Abnormal growth plate morphology</a></span><ul><li><span class="TLline"><a href="/medgen/1368404" ref="tree=MeSH" title="MedGen record for Thick growth plates">Thick growth plates</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/893060" ref="tree=MeSH" title="MedGen record for Abnormal hyoid bone morphology">Abnormal hyoid bone morphology</a></span></li><li><span class="TLline"><a href="/medgen/893053" ref="tree=MeSH" title="MedGen record for Abnormal joint morphology">Abnormal joint morphology</a></span><ul><li><span class="TLline"><a href="/medgen/1841519" ref="tree=MeSH" title="MedGen record for Abnormal synovial membrane morphology">Abnormal synovial membrane morphology</a></span></li><li><span class="TLline"><a href="/medgen/2043" ref="tree=MeSH" title="MedGen record for Arthritis">Arthritis</a></span></li><li><span class="TLline"><a href="/medgen/7190" ref="tree=MeSH" title="MedGen record for Arthropathy">Arthropathy</a></span></li><li><span class="TLline"><a href="/medgen/347068" ref="tree=MeSH" title="MedGen record for Enlarged joints">Enlarged joints</a></span></li><li><span class="TLline"><a href="/medgen/41614" ref="tree=MeSH" title="MedGen record for Joint dislocation">Joint dislocation</a></span></li><li><span class="TLline"><a href="/medgen/83065" ref="tree=MeSH" title="MedGen record for Joint subluxation">Joint subluxation</a></span></li><li><span class="TLline"><a href="/medgen/56258" ref="tree=MeSH" title="MedGen record for Joint swelling">Joint swelling</a></span></li><li><span class="TLline"><a href="/medgen/7191" ref="tree=MeSH" title="MedGen record for Loose body in joint">Loose body in joint</a></span></li><li><span class="TLline"><a href="/medgen/1689016" ref="tree=MeSH" title="MedGen record for Periarticular soft-tissue mass">Periarticular soft-tissue mass</a></span></li><li><span class="TLline"><a href="/medgen/870786" ref="tree=MeSH" title="MedGen record for Progressive joint destruction">Progressive joint destruction</a></span></li><li><span class="TLline"><a href="/medgen/1842126" ref="tree=MeSH" title="MedGen record for Purulent synovial fluid">Purulent synovial fluid</a></span></li><li><span class="TLline"><a href="/medgen/606166" ref="tree=MeSH" title="MedGen record for Synovial fluid crystals">Synovial fluid crystals</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/869217" ref="tree=MeSH" title="MedGen record for Abnormal nasal skeleton morphology">Abnormal nasal skeleton morphology</a></span><ul><li><span class="TLline"><a href="/medgen/869215" ref="tree=MeSH" title="MedGen record for Abnormal nasal bone morphology">Abnormal nasal bone morphology</a></span></li><li><span class="TLline"><a href="/medgen/892751" ref="tree=MeSH" title="MedGen record for Abnormality nasal septum cartilage morphology">Abnormality nasal septum cartilage morphology</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/868124" ref="tree=MeSH" title="MedGen record for Abnormal periosteum morphology">Abnormal periosteum morphology</a></span><ul><li><span class="TLline"><a href="/medgen/322396" ref="tree=MeSH" title="MedGen record for Metacarpal periosteal thickening">Metacarpal periosteal thickening</a></span></li><li><span class="TLline"><a href="/medgen/331721" ref="tree=MeSH" title="MedGen record for Metatarsal periosteal thickening">Metatarsal periosteal thickening</a></span></li><li><span class="TLline"><a href="/medgen/473334" ref="tree=MeSH" title="MedGen record for Periosteal elevation">Periosteal elevation</a></span></li><li><span class="TLline"><a href="/medgen/322394" ref="tree=MeSH" title="MedGen record for Periosteal thickening of long tubular bones">Periosteal thickening of long tubular bones</a></span></li><li><span class="TLline"><a href="/medgen/45816" ref="tree=MeSH" title="MedGen record for Periostitis">Periostitis</a></span></li><li><span class="TLline"><a href="/medgen/473416" ref="tree=MeSH" title="MedGen record for Periostosis">Periostosis</a></span></li><li><span class="TLline"><a href="/medgen/322397" ref="tree=MeSH" title="MedGen record for Proximal phalangeal periosteal thickening">Proximal phalangeal periosteal thickening</a></span></li><li><span class="TLline"><a href="/medgen/393241" ref="tree=MeSH" title="MedGen record for Subperiosteal bone formation">Subperiosteal bone formation</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1369730" ref="tree=MeSH" title="MedGen record for Abnormal synovial bursa morphology">Abnormal synovial bursa morphology</a></span><ul><li><span class="TLline"><a href="/medgen/691" ref="tree=MeSH" title="MedGen record for Bursitis">Bursitis</a></span></li><li><span class="TLline"><a href="/medgen/1056067" ref="tree=MeSH" title="MedGen record for Synovial crystals">Synovial crystals</a></span></li><li><span class="TLline"><a href="/medgen/39320" ref="tree=MeSH" title="MedGen record for Synovial cyst">Synovial cyst</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/866679" ref="tree=MeSH" title="MedGen record for Abnormal tendon morphology">Abnormal tendon morphology</a></span><ul><li><span class="TLline"><a href="/medgen/867281" ref="tree=MeSH" title="MedGen record for Abnormality of the Achilles tendon">Abnormality of the Achilles tendon</a></span></li><li><span class="TLline"><a href="/medgen/57634" ref="tree=MeSH" title="MedGen record for Digital flexor tenosynovitis">Digital flexor tenosynovitis</a></span></li><li><span class="TLline"><a href="/medgen/3228" ref="tree=MeSH" title="MedGen record for Joint contracture">Joint contracture</a></span></li><li><span class="TLline"><a href="/medgen/1757602" ref="tree=MeSH" title="MedGen record for Rotator cuff tear">Rotator cuff tear</a></span></li><li><span class="TLline"><a href="/medgen/508840" ref="tree=MeSH" title="MedGen record for Tendon rupture">Tendon rupture</a></span></li><li><span class="TLline"><a href="/medgen/1670963" ref="tree=MeSH" title="MedGen record for Tendon thickening">Tendon thickening</a></span></li><li><span class="TLline"><a href="/medgen/450999" ref="tree=MeSH" title="MedGen record for Tendon xanthomatosis">Tendon xanthomatosis</a></span></li><li><span class="TLline"><a href="/medgen/21094" ref="tree=MeSH" title="MedGen record for Tendonitis">Tendonitis</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/870159" ref="tree=MeSH" title="MedGen record for Aplasia/hypoplasia involving the skeleton">Aplasia/hypoplasia involving the skeleton</a></span></li><li><span class="TLline"><a href="/medgen/1054544" ref="tree=MeSH" title="MedGen record for Bone marrow edema">Bone marrow edema</a></span></li><li><span class="TLline"><a href="/medgen/1851010" ref="tree=MeSH" title="MedGen record for Dysostosis multiplex">Dysostosis multiplex</a></span></li><li><span class="TLline"><a href="/medgen/1053664" ref="tree=MeSH" title="MedGen record for Elevated bone scintigraphy uptake">Elevated bone scintigraphy uptake</a></span></li><li><span class="TLline"><a href="/medgen/9366" ref="tree=MeSH" title="MedGen record for Hyperostosis">Hyperostosis</a></span><ul><li><span class="TLline"><a href="/medgen/318629" ref="tree=MeSH" title="MedGen record for Cranial hyperostosis">Cranial hyperostosis</a></span></li><li><span class="TLline"><a href="/medgen/96080" ref="tree=MeSH" title="MedGen record for Craniodiaphyseal dysplasia">Craniodiaphyseal dysplasia</a></span></li><li><span class="TLline"><a href="/medgen/1384891" ref="tree=MeSH" title="MedGen record for Craniotubular Hyperostosis">Craniotubular Hyperostosis</a></span></li><li><span class="TLline"><a href="/medgen/5695" ref="tree=MeSH" title="MedGen record for Diffuse idiopathic skeletal hyperostosis">Diffuse idiopathic skeletal hyperostosis</a></span></li><li><span class="TLline"><a href="/medgen/257035" ref="tree=MeSH" title="MedGen record for Exostoses">Exostoses</a></span></li><li><span class="TLline"><a href="/medgen/9367" ref="tree=MeSH" title="MedGen record for Hyperostosis interna frontalis">Hyperostosis interna frontalis</a></span></li><li><span class="TLline"><a href="/medgen/5696" ref="tree=MeSH" title="MedGen record for Hyperostosis, Sternocostoclavicular">Hyperostosis, Sternocostoclavicular</a></span></li><li><span class="TLline"><a href="/medgen/98484" ref="tree=MeSH" title="MedGen record for Hyperphosphatasemia tarda">Hyperphosphatasemia tarda</a></span></li><li><span class="TLline"><a href="/medgen/5694" ref="tree=MeSH" title="MedGen record for Increased skull ossification">Increased skull ossification</a></span></li><li><span class="TLline"><a href="/medgen/43781" ref="tree=MeSH" title="MedGen record for Infantile cortical hyperostosis">Infantile cortical hyperostosis</a></span></li><li><span class="TLline"><a href="/medgen/322334" ref="tree=MeSH" title="MedGen record for Vertebral hyperostosis">Vertebral hyperostosis</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/868157" ref="tree=MeSH" title="MedGen record for Hyperplastic callus formation">Hyperplastic callus formation</a></span></li><li><span class="TLline"><a href="/medgen/377067" ref="tree=MeSH" title="MedGen record for Narrowing of medullary canal">Narrowing of medullary canal</a></span></li><li><span class="TLline"><a href="/medgen/488993" ref="tree=MeSH" title="MedGen record for Neoplasm of the skeletal system">Neoplasm of the skeletal system</a></span><ul><li><span class="TLline"><a href="/medgen/83163" ref="tree=MeSH" title="MedGen record for Adamantinoma">Adamantinoma</a></span></li><li><span class="TLline"><a href="/medgen/57758" ref="tree=MeSH" title="MedGen record for Aneurysmal bone cyst">Aneurysmal bone cyst</a></span></li><li><span class="TLline"><a href="/medgen/40270" ref="tree=MeSH" title="MedGen record for Chondroblastoma">Chondroblastoma</a></span></li><li><span class="TLline"><a href="/medgen/66375" ref="tree=MeSH" title="MedGen record for Chondromyxoid fibroma">Chondromyxoid fibroma</a></span></li><li><span class="TLline"><a href="/medgen/40277" ref="tree=MeSH" title="MedGen record for Chordoma">Chordoma</a></span></li><li><span class="TLline"><a href="/medgen/350613" ref="tree=MeSH" title="MedGen record for Diaphyseal medullary stenosis-bone malignancy syndrome">Diaphyseal medullary stenosis-bone malignancy syndrome</a></span></li><li><span class="TLline"><a href="/medgen/316457" ref="tree=MeSH" title="MedGen record for Enchondroma">Enchondroma</a></span></li><li><span class="TLline"><a href="/medgen/41775" ref="tree=MeSH" title="MedGen record for Enchondromatosis">Enchondromatosis</a></span></li><li><span class="TLline"><a href="/medgen/64624" ref="tree=MeSH" title="MedGen record for Giant cell tumor of bone">Giant cell tumor of bone</a></span></li><li><span class="TLline"><a href="/medgen/501159" ref="tree=MeSH" title="MedGen record for Gigantiform cementoma">Gigantiform cementoma</a></span></li><li><span class="TLline"><a href="/medgen/7437" ref="tree=MeSH" title="MedGen record for Maffucci syndrome">Maffucci syndrome</a></span></li><li><span class="TLline"><a href="/medgen/4612" ref="tree=MeSH" title="MedGen record for Multiple congenital exostosis">Multiple congenital exostosis</a></span></li><li><span class="TLline"><a href="/medgen/331588" ref="tree=MeSH" title="MedGen record for OSLAM syndrome">OSLAM syndrome</a></span></li><li><span class="TLline"><a href="/medgen/18212" ref="tree=MeSH" title="MedGen record for Osteoblastoma">Osteoblastoma</a></span></li><li><span class="TLline"><a href="/medgen/10496" ref="tree=MeSH" title="MedGen record for Osteochondroma">Osteochondroma</a></span></li><li><span class="TLline"><a href="/medgen/824952" ref="tree=MeSH" title="MedGen record for Osteochondromyxoma">Osteochondromyxoma</a></span></li><li><span class="TLline"><a href="/medgen/18220" ref="tree=MeSH" title="MedGen record for Osteoma">Osteoma</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/14529" ref="tree=MeSH" title="MedGen record for Osteitis fibrosa">Osteitis fibrosa</a></span></li><li><span class="TLline"><a href="/medgen/98053" ref="tree=MeSH" title="MedGen record for Skeletal dysplasia">Skeletal dysplasia</a></span><ul><li><span class="TLline"><a href="/medgen/4268" ref="tree=MeSH" title="MedGen record for Diaphyseal dysplasia">Diaphyseal dysplasia</a></span></li><li><span class="TLline"><a href="/medgen/867266" ref="tree=MeSH" title="MedGen record for Lethal skeletal dysplasia">Lethal skeletal dysplasia</a></span></li><li><span class="TLline"><a href="/medgen/1677924" ref="tree=MeSH" title="MedGen record for Metaphyseal dysplasia">Metaphyseal dysplasia</a></span></li><li><span class="TLline"><a href="/medgen/6461" ref="tree=MeSH" title="MedGen record for Multiple epiphyseal dysplasia">Multiple epiphyseal dysplasia</a></span></li><li><span class="TLline"><a href="/medgen/870684" ref="tree=MeSH" title="MedGen record for Multiple skeletal anomalies">Multiple skeletal anomalies</a></span></li><li><span class="TLline"><a href="/medgen/895748" ref="tree=MeSH" title="MedGen record for Osteofibrous dysplasia">Osteofibrous dysplasia</a></span></li><li><span class="TLline"><a href="/medgen/1811782" ref="tree=MeSH" title="MedGen record for Short stature-advanced bone age-early-onset osteoarthritis syndrome">Short stature-advanced bone age-early-onset osteoarthritis syndrome</a></span></li><li><span class="TLline"><a href="/medgen/609408" ref="tree=MeSH" title="MedGen record for Spondyloepimetaphyseal dysplasia">Spondyloepimetaphyseal dysplasia</a></span></li><li><span class="TLline"><a href="/medgen/20916" ref="tree=MeSH" title="MedGen record for Spondyloepiphyseal dysplasia">Spondyloepiphyseal dysplasia</a></span></li><li><span class="TLline"><a href="/medgen/1674850" ref="tree=MeSH" title="MedGen record for Spondylometaphyseal dysplasia">Spondylometaphyseal dysplasia</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1644154" ref="tree=MeSH" title="MedGen record for Xanthoma of bone">Xanthoma of bone</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/812556" ref="tree=MeSH" title="MedGen record for Ectopic calcification">Ectopic calcification</a></span><ul><li><span class="TLline"><a href="/medgen/368481" ref="tree=MeSH" title="MedGen record for Abnormal calcification of the carpal bones">Abnormal calcification of the carpal bones</a></span><ul><li><span class="TLline"><a href="/medgen/870936" ref="tree=MeSH" title="MedGen record for Sclerotic foci within carpal bones">Sclerotic foci within carpal bones</a></span></li><li><span class="TLline"><a href="/medgen/337100" ref="tree=MeSH" title="MedGen record for Stippled calcification in carpal bones">Stippled calcification in carpal bones</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/340441" ref="tree=MeSH" title="MedGen record for Calcific stippling">Calcific stippling</a></span></li><li><span class="TLline"><a href="/medgen/867626" ref="tree=MeSH" title="MedGen record for Calcification of cartilage">Calcification of cartilage</a></span><ul><li><span class="TLline"><a href="/medgen/278057" ref="tree=MeSH" title="MedGen record for Calcification of the auricular cartilage">Calcification of the auricular cartilage</a></span></li><li><span class="TLline"><a href="/medgen/344533" ref="tree=MeSH" title="MedGen record for Costal cartilage calcification">Costal cartilage calcification</a></span></li><li><span class="TLline"><a href="/medgen/368474" ref="tree=MeSH" title="MedGen record for Progressive calcification of costochondral cartilage">Progressive calcification of costochondral cartilage</a></span></li><li><span class="TLline"><a href="/medgen/871201" ref="tree=MeSH" title="MedGen record for Stippled chondral calcification">Stippled chondral calcification</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/868070" ref="tree=MeSH" title="MedGen record for Calcification of ribs">Calcification of ribs</a></span><ul><li><span class="TLline"><a href="/medgen/395182" ref="tree=MeSH" title="MedGen record for Anterior rib punctate calcifications">Anterior rib punctate calcifications</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/472879" ref="tree=MeSH" title="MedGen record for Calcinosis cutis">Calcinosis cutis</a></span></li><li><span class="TLline"><a href="/medgen/338697" ref="tree=MeSH" title="MedGen record for Cerebellar calcifications">Cerebellar calcifications</a></span></li><li><span class="TLline"><a href="/medgen/349104" ref="tree=MeSH" title="MedGen record for Epiphyseal stippling">Epiphyseal stippling</a></span><ul><li><span class="TLline"><a href="/medgen/348431" ref="tree=MeSH" title="MedGen record for Calcaneal epiphyseal stippling">Calcaneal epiphyseal stippling</a></span></li><li><span class="TLline"><a href="/medgen/867241" ref="tree=MeSH" title="MedGen record for Distal ulnar epiphyseal stippling">Distal ulnar epiphyseal stippling</a></span></li><li><span class="TLline"><a href="/medgen/867347" ref="tree=MeSH" title="MedGen record for Epiphyseal stippling of the humerus">Epiphyseal stippling of the humerus</a></span></li><li><span class="TLline"><a href="/medgen/866975" ref="tree=MeSH" title="MedGen record for Epiphyseal stippling of toe phalanges">Epiphyseal stippling of toe phalanges</a></span></li><li><span class="TLline"><a href="/medgen/867263" ref="tree=MeSH" title="MedGen record for Neonatal epiphyseal stippling">Neonatal epiphyseal stippling</a></span></li><li><span class="TLline"><a href="/medgen/342435" ref="tree=MeSH" title="MedGen record for Popcorn calcification">Popcorn calcification</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1368801" ref="tree=MeSH" title="MedGen record for Gingival calcification">Gingival calcification</a></span></li><li><span class="TLline"><a href="/medgen/870201" ref="tree=MeSH" title="MedGen record for Gonadal calcification">Gonadal calcification</a></span></li><li><span class="TLline"><a href="/medgen/451050" ref="tree=MeSH" title="MedGen record for Intervertebral disk calcification">Intervertebral disk calcification</a></span></li><li><span class="TLline"><a href="/medgen/1860794" ref="tree=MeSH" title="MedGen record for Intracranial calcification">Intracranial calcification</a></span><ul><li><span class="TLline"><a href="/medgen/124360" ref="tree=MeSH" title="MedGen record for Cerebral calcification">Cerebral calcification</a></span></li><li><span class="TLline"><a href="/medgen/354924" ref="tree=MeSH" title="MedGen record for Choroid plexus calcification">Choroid plexus calcification</a></span></li><li><span class="TLline"><a href="/medgen/867790" ref="tree=MeSH" title="MedGen record for Meningeal calcification">Meningeal calcification</a></span></li><li><span class="TLline"><a href="/medgen/869370" ref="tree=MeSH" title="MedGen record for Pituitary calcification">Pituitary calcification</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/575157" ref="tree=MeSH" title="MedGen record for Periarticular calcification">Periarticular calcification</a></span></li><li><span class="TLline"><a href="/medgen/349101" ref="tree=MeSH" title="MedGen record for Sternal punctate calcifications">Sternal punctate calcifications</a></span></li><li><span class="TLline"><a href="/medgen/75539" ref="tree=MeSH" title="MedGen record for Tracheal calcification">Tracheal calcification</a></span></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
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<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="divPopper rprt" id="rdis_7311"><div><strong>Letterer-Siwe disease</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>7311</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.">C0023381</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">A multifocal, multisystem form of Langerhans-cell histiocytosis. There is involvement of multiple organ systems including the bones, skin, liver, spleen, and lymph nodes. Patients are usually infants presenting with fever, hepatosplenomegaly, lymphadenopathy, bone and skin lesions, and pancytopenia.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/7311">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_45248"><div><strong>Gorham-Stout disease</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>45248</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.">C0029438</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Gorham-Stout disease (GSD) is a rare disease of massive osteolysis associated with proliferation and dilation of lymphatic vessels. GSD may affect any bone in the body and can be monostotic or polyostotic. Symptoms at presentation are dependent upon the location(s) of the disease; the most common symptom is localized pain. The disease may be discovered after a pathological fracture.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/45248">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_10629"><div><strong>Induratio penis plastica</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>10629</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.">C0030848</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Fibromatosis arising from the soft tissues of the penis. It is characterized by the presence of spindle-shaped fibroblasts, and an infiltrative growth pattern. It causes the penis to bend when it becomes erect.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/10629">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_20473"><div><strong>Raynaud disease</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>20473</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.">C0034734</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Raynaud phenomenon is characterized by episodic digital vasospasms that are provoked by cold and/or emotional stress. In the absence of an identifiable disease process, such as scleroderma or traumatic vibration, the condition is termed primary Raynaud disease (summary by Freedman and Mayes, 1996).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/20473">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_67435"><div><strong>Rotor syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>67435</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.">C0220991</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Rotor syndrome is characterized by mild conjugated and unconjugated hyperbilirubinemia that usually begins shortly after birth or in childhood. Jaundice may be intermittent. Conjunctival icterus may be the only clinical manifestation.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/67435">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_78103"><div><strong>Knuckle pads</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>78103</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.">C0264000</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Skoog (1948) defined knuckle pads as 'subcutaneous nodules on the dorsal aspect of the proximal interphalangeal joints.'</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/78103">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_120551"><div><strong>Tibial hemimelia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>120551</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.">C0265633</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
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<div class="spaceAbove">Tibial hemimelia is a rare anomaly characterized by deficiency of the tibia with relatively intact fibula. Jones et al. (1978) classified the anomaly into 4 types according to radiologic criteria. It may present as an isolated anomaly or be associated with a variety of skeletal and extraskeletal malformations. Tibial hemimelia may also constitute a part of a more complicated malformation complex or syndrome, such as the Gollop-Wolfgang complex (228250) and triphalangeal thumb-polysyndactyly syndrome (see 174500 and 188740) (Matsuyama et al., 2003). McKay et al. (1984) reviewed syndromes of congenital defects in which tibial hemimelia is a feature.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/120551">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_82778"><div><strong>Dysmorphic sialidosis with renal involvement</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>82778</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.">C0268232</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/82778">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_98140"><div><strong>Thumbs, congenital Clasped</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>98140</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.">C0431886</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">In the resting position, the tip of the thumb is on, or near, the palm, close to the base of the fourth or fifth finger.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/98140">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_96591"><div><strong>Dysplasia epiphysealis hemimelica</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>96591</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.">C0432282</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A rare bone development disorder characterized by localized, asymmetric osteochondral overgrowth affecting single or multiple epiphyses, most commonly the distal femur, proximal tibia, and talus. The lesions are typically restricted to one side of the epiphysis, with the medial side being affected twice as often as the lateral side. The condition is usually diagnosed in children, and three times more often in boys than in girls. Patients present with pain, limitation in range of motion, and deformity or swelling of the affected joint.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/96591">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_162920"><div><strong>Van den Bosch syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>162920</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.">C0796192</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Syndrome that is characterised by intellectual deficit, choroideraemia, acrokeratosis verruciformis, anhidrosis, and skeletal deformities. It has been observed in a single kindred. The syndrome is transmitted as an X-linked recessive trait and may be caused by a small X-chromosome deletion.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/162920">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_209099"><div><strong>Exostoses of heel</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>209099</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.">C0877431</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/209099">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_318191"><div><strong>Spinal arachnoiditis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>318191</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.">C1710146</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A chronic adhesive arachnoiditis in the spinal arachnoid, with root and spinal cord symptoms similar to those caused by pressure from a tumor.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/318191">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_320429"><div><strong>Monophalangy of great toe</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>320429</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.">C1834753</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/320429">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_324974"><div><strong>Pachydermodactyly, familial</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>324974</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.">C1838218</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/324974">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_333107"><div><strong>Pachygyria-intellectual disability-epilepsy syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>333107</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.">C1838491</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">This autosomal recessive neurodevelopmental disorder is characterized by pachygyria, impaired intellectual development, seizures, and diffuse localization of arachnoid cysts. It most likely represents a neuronal migration disorder within the lissencephaly spectrum (summary by Guzel et al., 2007).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/333107">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_325511"><div><strong>Wolfram syndrome, mitochondrial form</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>325511</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.">C1838782</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/325511">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_336099"><div><strong>Hhhh syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>336099</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.">C1844019</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/336099">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_343705"><div><strong>Double nail for fifth toe</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>343705</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.">C1852023</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/343705">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_383654"><div><strong>Megaepiphyseal dwarfism</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>383654</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.">C1855310</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/383654">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_343419"><div><strong>Hypouricemia, hypercalcinuria, and decreased bone density</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>343419</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.">C1855793</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/343419">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_347062"><div><strong>Circumvallate placenta syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>347062</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.">C1859089</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/347062">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_347174"><div><strong>Beemer-Ertbruggen syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>347174</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.">C1859526</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A lethal malformation syndrome reported in 2 brothers of first-cousin parents with characteristics of hydrocephalus, cardiac malformation, dense bones and unusual facies with down-slanting palpebral fissures, bulbous nose, broad nasal bridge, micrognathia and a long upper lip. Transmission is likely autosomal recessive. There have been no further descriptions in the literature since 1984.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/347174">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_396051"><div><strong>Toes, relative length of first and second</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>396051</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.">C1861059</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/396051">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_396052"><div><strong>Toe, misshapen</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>396052</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.">C1861061</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/396052">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_348255"><div><strong>Toe, fifth, number of phalanges 1N</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>348255</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.">C1861062</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/348255">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_348468"><div><strong>Carpal displacement</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>348468</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.">C1861847</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/348468">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_356777"><div><strong>Pubic bone dysplasia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>356777</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.">C1867436</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/356777">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_357025"><div><strong>Palmaris longus muscle, absence of</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>357025</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.">C1868661</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/357025">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_767041"><div><strong>Ectodermal dysplasia 9, hair/nail type</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>767041</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.">C3554127</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Some ectodermal dysplasias are here classified as congenital disorders characterized by abnormal development in 2 or more ectodermal structures (hair, nails, teeth, and sweat glands) without other systemic findings. Ectodermal dysplasia of the hair/nail type is a rare congenital condition characterized by hypotrichosis and nail dystrophy without nonectodermal or other ectodermal manifestations. Hypotrichosis usually occurs after birth with varying degrees of severity, ranging from mild hair loss to complete atrichia, including the loss of scalp hair, beard, eyebrows, eyelashes, axillary hair, and pubic hair. Nail dystrophy affects all 20 digits by causing short fragile nails or spoon nails (koilonychia) (summary by Lin et al., 2012).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/767041">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1644868"><div><strong>Vesicoureteral reflux 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1644868</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.">C4551858</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/1644868">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1679283"><div><strong>Galloway-Mowat syndrome 7</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1679283</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.">C5193044</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Galloway-Mowat syndrome-7 (GAMOS7) is an autosomal recessive disorder characterized by developmental delay, microcephaly, and early-onset nephrotic syndrome (summary by Rosti et al., 2017). For a general phenotypic description and a discussion of genetic heterogeneity of GAMOS, see GAMOS1 (251300).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1679283">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1794167"><div><strong>Developmental delay, impaired speech, and behavioral abnormalities</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1794167</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.">C5561957</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Developmental delay, impaired speech, and behavioral abnormalities (DDISBA) is characterized by global developmental delay apparent from early childhood. Intellectual disability can range from mild to severe. Additional variable features may include dysmorphic facial features, seizures, hypotonia, motor abnormalities such as Tourette syndrome or dystonia, and hearing loss (summary by Cousin et al., 2021).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1794167">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_347174" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Beemer-Ertbruggen syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_348468" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Carpal displacement</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_347062" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Circumvallate placenta syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1794167" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Developmental delay, impaired speech, and behavioral abnormalities</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_343705" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Double nail for fifth toe</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_82778" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Dysmorphic sialidosis with renal involvement</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_96591" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Dysplasia epiphysealis hemimelica</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_767041" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ectodermal dysplasia 9, hair/nail type</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_209099" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Exostoses of heel</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1679283" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Galloway-Mowat syndrome 7</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_45248" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Gorham-Stout disease</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_336099" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hhhh syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_343419" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypouricemia, hypercalcinuria, and decreased bone density</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_10629" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Induratio penis plastica</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_78103" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Knuckle pads</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_7311" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Letterer-Siwe disease</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_383654" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Megaepiphyseal dwarfism</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_320429" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Monophalangy of great toe</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_324974" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pachydermodactyly, familial</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_333107" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pachygyria-intellectual disability-epilepsy syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_357025" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Palmaris longus muscle, absence of</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_356777" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pubic bone dysplasia</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_20473" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Raynaud disease</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_67435" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Rotor syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_318191" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spinal arachnoiditis</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_98140" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Thumbs, congenital Clasped</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_120551" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Tibial hemimelia</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_348255" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Toe, fifth, number of phalanges 1N</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_396052" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Toe, misshapen</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_396051" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Toes, relative length of first and second</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_162920" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Van den Bosch syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1644868" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Vesicoureteral reflux 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_325511" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Wolfram syndrome, mitochondrial form</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/36803942">Joubert syndrome: Molecular basis and treatment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Spahiu L,
|
||
Behluli E,
|
||
Grajçevci-Uka V,
|
||
Liehr T,
|
||
Temaj G</span><br />
|
||
<span class="medgenPMjournal">J Mother Child</span>
|
||
2022 Mar 1;26(1):118-123.
|
||
Epub 2023 Feb 22
|
||
doi: 10.34763/jmotherandchild.20222601.d-22-00034.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36803942" target="_blank">36803942</a><a href="/pmc/articles/PMC10032320" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35103762">Diagnosis and Management of Multiple Myeloma: A Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cowan AJ,
|
||
Green DJ,
|
||
Kwok M,
|
||
Lee S,
|
||
Coffey DG,
|
||
Holmberg LA,
|
||
Tuazon S,
|
||
Gopal AK,
|
||
Libby EN</span><br />
|
||
<span class="medgenPMjournal">JAMA</span>
|
||
2022 Feb 1;327(5):464-477.
|
||
doi: 10.1001/jama.2022.0003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35103762" target="_blank">35103762</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33498356">Epidemiology, Staging, and Management of Multiple Myeloma.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Padala SA,
|
||
Barsouk A,
|
||
Barsouk A,
|
||
Rawla P,
|
||
Vakiti A,
|
||
Kolhe R,
|
||
Kota V,
|
||
Ajebo GH</span><br />
|
||
<span class="medgenPMjournal">Med Sci (Basel)</span>
|
||
2021 Jan 20;9(1)
|
||
doi: 10.3390/medsci9010003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33498356" target="_blank">33498356</a><a href="/pmc/articles/PMC7838784" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(abnormality%20of%20the%20skeletal%20system)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (146)</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/34198368">Extended genetic testing in fetuses with sonographic skeletal system abnormalities.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kucińska-Chahwan A,
|
||
Roszkowski T,
|
||
Nowakowska B,
|
||
Geremek M,
|
||
Paczkowska M,
|
||
Bijok J,
|
||
Massalska D</span><br />
|
||
<span class="medgenPMjournal">Ultrasound Obstet Gynecol</span>
|
||
2022 May;59(5):660-667.
|
||
doi: 10.1002/uog.23722.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34198368" target="_blank">34198368</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/6667200">The ophthalmological significance of the basal cell naevus syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rogers PA</span><br />
|
||
<span class="medgenPMjournal">Aust J Ophthalmol</span>
|
||
1983 Nov;11(4):275-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/6667200" target="_blank">6667200</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormality%20of%20the%20skeletal%20system%22%20AND%20Etiology%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (2)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/34198368">Extended genetic testing in fetuses with sonographic skeletal system abnormalities.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kucińska-Chahwan A,
|
||
Roszkowski T,
|
||
Nowakowska B,
|
||
Geremek M,
|
||
Paczkowska M,
|
||
Bijok J,
|
||
Massalska D</span><br />
|
||
<span class="medgenPMjournal">Ultrasound Obstet Gynecol</span>
|
||
2022 May;59(5):660-667.
|
||
doi: 10.1002/uog.23722.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34198368" target="_blank">34198368</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/6667200">The ophthalmological significance of the basal cell naevus syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rogers PA</span><br />
|
||
<span class="medgenPMjournal">Aust J Ophthalmol</span>
|
||
1983 Nov;11(4):275-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/6667200" target="_blank">6667200</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormality%20of%20the%20skeletal%20system%22%20AND%20Diagnosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (2)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/34198368">Extended genetic testing in fetuses with sonographic skeletal system abnormalities.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kucińska-Chahwan A,
|
||
Roszkowski T,
|
||
Nowakowska B,
|
||
Geremek M,
|
||
Paczkowska M,
|
||
Bijok J,
|
||
Massalska D</span><br />
|
||
<span class="medgenPMjournal">Ultrasound Obstet Gynecol</span>
|
||
2022 May;59(5):660-667.
|
||
doi: 10.1002/uog.23722.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34198368" target="_blank">34198368</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormality%20of%20the%20skeletal%20system%22%20AND%20Clinical%20prediction%20guides%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (1)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
<div id="messagearea_bottom">
|
||
|
||
</div>
|
||
<div class=" bottom">
|
||
|
||
</div>
|
||
|
||
</div>
|
||
</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
<div>
|
||
|
||
<!-- MedGen supplemental column starts here -->
|
||
<div class="rightCol mgCol">
|
||
<div class="portlet mgSection" id="ID_113">
|
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
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<div class="portlet_content ln"><ul id="my-toc"></ul></div>
|
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</div>
|
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|
||
<div class="portlet mgSection" id="ID_106">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Genetic_Testing_Registry">Genetic Testing Registry</h1><a sid="106" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C4021790%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (13)</a></li>
|
||
<li><a href="/gtr/tests?term=C4021790%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (14)</a></li>
|
||
<li><a href="/gtr/tests?term=C4021790%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (1)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C4021790%5bDISCUI%5d" target="_blank">See all (14)</a></total></li>
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</ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_119">
|
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_resources">Clinical resources</h1><a sid="119" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="https://clinicaltrials.gov/search?cond=Abnormality%20of%20the%20skeletal%20system" target="_blank">ClinicalTrials.gov</a></li></ul></div>
|
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</div>
|
||
|
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<div class="portlet mgSection" id="ID_121">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Practice_guidelines">Practice guidelines</h1><a sid="121" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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