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<meta name="keywords" content="C2678397, absent ossification/absent ulna, absent ulna, absent ulnae, aplasia of the ulna, congenital abnormality, finding, autosomal dominant, autosomal recessive, birth defects, chromosomal disease, chromosome, clinical features, clinical findings, clinical genetics, clinical recommendations, clinvar, congenital chromosomal disease, consumer genetic resources, cytogenetic location, disease characteristics, disease definitions, disease descriptions, disease ontology, disease synonyms, disease vocabulary, dysmorphology, entrez, familial disease, gene, gene-disease relationship, genereviews, genetic disease, genetic disorder, genetic terminology, genetic testing registry, genetics home reference, genomic disease, gtr, hereditary disease, heritable disease, hpo, human phenotype ontology, inherited disease, management guidelines, maternal inheritance, medgen, medical genetics, medical subject headings, mesh, mitochondrial inheritance, mode of inheritance, national center for biotechnology information, national institutes of health, national library of medicine, ncbi, nih, nlm, omim, ordo, orphanet, paternal inheritance, phenome, position statements, professional practice guidelines, rare disease, reference sequence, refseq, snomed ct, syndrome, undiagnosed diseases, x-linked recessive" /><meta name="description" content="Missing ulna bone associated with congenital failure of development." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
UID=394508
ConceptID=C2678397
-->
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Aplasia of the ulna</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>394508</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C2678397</a></dd><dt><span class="dotprefix"></span></dt><dd>Congenital Abnormality; Finding</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
<td>Absent ulnae</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:0003982">HP:0003982</a></td></tr>
</tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
<div class="portlet mgSection" id="ID_100">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln">Missing ulna bone associated with congenital failure of development. [from <a title="Human Phenotype Ontology" href="http://www.human-phenotype-ontology.org" class="defSource" target="_blank">HPO</a>]</div>
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<div class="portlet mgSection" id="ID_118">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test,  </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test,  </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM,  </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>,  </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar  </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C2678397[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=394508">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline">Aplasia of the ulna</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/536898" ref="tree=MeSH" title="MedGen record for Abnormality of limbs">Abnormality of limbs</a></span><ul><li><span class="TLline"><a href="/medgen/866555" ref="tree=MeSH" title="MedGen record for Abnormality of the upper limb">Abnormality of the upper limb</a></span><ul><li><span class="TLline"><a href="/medgen/868067" ref="tree=MeSH" title="MedGen record for Abnormal upper limb bone morphology">Abnormal upper limb bone morphology</a></span><ul><li><span class="TLline"><a href="/medgen/868061" ref="tree=MeSH" title="MedGen record for Abnormal forearm bone morphology">Abnormal forearm bone morphology</a></span><ul><li><span class="TLline"><a href="/medgen/870583" ref="tree=MeSH" title="MedGen record for Aplasia/hypoplasia involving forearm bones">Aplasia/hypoplasia involving forearm bones</a></span><ul><li><span class="TLline"><a href="/medgen/869766" ref="tree=MeSH" title="MedGen record for Aplasia involving forearm bones">Aplasia involving forearm bones</a></span><ul><li><span class="matched_ds">Aplasia of the ulna</span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
</div>
<div class="portlet mgSection" id="ID_112">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Conditions_with_this_feature">Conditions with this feature</h1><a sid="112" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln clinfeat">
<div class="divPopper rprt" id="rdis_120524"><div><strong>Holt-Oram syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>120524</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information."><span class="highlight" style="background-color:">C0265264</span></a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Holt-Oram syndrome (HOS) is characterized by upper-limb defects, congenital heart malformation, and cardiac conduction disease. Upper-limb malformations may be unilateral, bilateral/symmetric, or bilateral/asymmetric and can range from triphalangeal or absent thumb(s) to phocomelia. Other upper-limb malformations can include unequal arm length caused by aplasia or hypoplasia of the radius, fusion or anomalous development of the carpal and thenar bones, abnormal forearm pronation and supination, abnormal opposition of the thumb, sloping shoulders, and restriction of shoulder joint movement. An abnormal carpal bone is present in all affected individuals and may be the only evidence of disease. A congenital heart malformation is present in 75% of individuals with HOS and most commonly involves the septum. Atrial septal defect and ventricular septal defect can vary in number, size, and location. Complex congenital heart malformations can also occur in individuals with HOS. Individuals with HOS with or without a congenital heart malformation are at risk for cardiac conduction disease. While individuals may present at birth with sinus bradycardia and first-degree atrioventricular (AV) block, AV block can progress unpredictably to a higher grade including complete heart block with and without atrial fibrillation.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/120524">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_120547"><div><strong>Acheiropodia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>120547</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0265559</a></dd><dt><span class="dotprefix"></span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
<div class="spaceAbove">Acheiropody is characterized by bilateral congenital amputations of the upper and lower extremities and aplasia of the hands and feet. Specific patterns of malformations consist of a complete amputation of the distal epiphysis of the humerus, amputation of the distal part of the tibial diaphysis, and aplasia of the radius, ulna, fibula, and of the carpal, metacarpal, tarsal, metatarsal, and phalangeal bones (summary by Ianakiev et al., 2001).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/120547">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_95931"><div><strong>Roberts-SC phocomelia syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>95931</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0392475</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">ESCO2 spectrum disorder is characterized by mild-to-severe prenatal growth restriction, limb malformations (which can include bilateral symmetric tetraphocomelia or hypomelia caused by mesomelic shortening), hand anomalies (including oligodactyly, thumb aplasia or hypoplasia, and syndactyly), elbow and knee flexion contractures (involving elbows, wrists, knees, ankles, and feet [talipes equinovarus]), and craniofacial abnormalities (which can include bilateral cleft lip and/or cleft palate, micrognathia, widely spaced eyes, exophthalmos, downslanted palpebral fissures, malar flattening, and underdeveloped ala nasi), ear malformation, and corneal opacities. Intellectual disability (ranging from mild to severe) is common. Early mortality is common among severely affected pregnancies and newborns; mildly affected individuals may survive to adulthood.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/95931">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_336387"><div><strong>Ulnar agenesis and endocardial fibroelastosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>336387</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C1848649</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/336387">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_336388"><div><strong>Schinzel phocomelia syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>336388</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C1848651</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">The Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndrome (AARRS) is a rare autosomal recessive disorder characterized by severe malformations of upper and lower limbs with severely hypoplastic pelvis and abnormal genitalia. The disorder is believed to represent a defect of dorsoventral patterning and outgrowth of limbs (summary by Kantaputra et al., 2010).&#13; Overlapping limb reduction syndromes, less severe in nature, that are also caused by homozygous mutation in the WNT7A gene include Fuhrmann syndrome (228930), characterized by fibular aplasia or hypoplasia, femoral bowing, and poly-, syn-, and oligodactyly, and Santos syndrome (228930), characterized by fibular agenesis/hypoplasia, oligodactylous clubfeet, and anonychia/nail hypoplasia.&#13; Al-Qattan et al. (2013) stated that AARRS and Fuhrmann syndrome can be differentiated by the following features, which are seen only in AARRS: complete aplasia of 1 or both lower limbs, and absent elbow with radiohumeral synostosis. In addition, the number of digits per hand is 1 to 3 in AARRS, whereas there are 4 to 5 digits in Fuhrmann syndrome.&#13; 'Phocomelia' refers to an intercalary limb defect with the hand or foot being directly attached to the humerus or femur (absent zeugopod) or directly attached to the trunk (absent stylopod and zeugopod). AlQattan et al. (2013) stated that the limb defect observed in Schinzel phocomelia syndrome represents 'true' phocomelia, whereas the limb defect in AARRS is an 'apparent' phocomelia, in which there is absent ulna with radiohumeral synostosis. The authors described 3 radiologic features that define 'apparent' phocomelia: a single arm/forearm bone that appears too long to be the humerus alone; a thicker cortex at the area of the radiohumeral synostosis, with or without slight angulation at the site of synostosis; and the apparently single bone resembling the humerus proximally and the radius distally. The authors also noted that phocomelia is not a feature of the allelic disorder Fuhrmann syndrome (228930). Other distinguishing features of Schinzel phocomelia syndrome include normal nails and dorsal hand skin; distoproximal gradient of lower limb defects, without a resultant stick-like appearance; and a characteristic large cranial defect. AlQattan et al. (2013) concluded that Schinzel phocomelia syndrome and AARRS are distinct phenotypes.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/336388">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_341622"><div><strong>Gollop-Wolfgang complex</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>341622</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C1856789</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Gollop-Wolfgang complex (GWC) is a rare congenital limb anomaly characterized by bifurcation of the femur with ipsilateral tibial aplasia and split hand and monodactyly of the feet, resulting in severe and complex limb deformities. Variable expressivity and incomplete penetrance have been reported (Odrzywolski et al., 2024).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/341622">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_357886"><div><strong>Ulnar-mammary syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>357886</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C1866994</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Ulnar-mammary syndrome (UMS) is an autosomal dominant disorder characterized by posterior limb deficiencies or duplications, apocrine/mammary gland hypoplasia and/or dysfunction, abnormal dentition, delayed puberty in males, and genital anomalies (Bamshad et al., 1996).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/357886">Condition Record</a></div></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_120547" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Acheiropodia</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_341622" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Gollop-Wolfgang complex</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_120524" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Holt-Oram syndrome</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_95931" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Roberts-SC phocomelia syndrome</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_336388" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Schinzel phocomelia syndrome</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_336387" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ulnar agenesis and endocardial fibroelastosis</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_357886" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ulnar-mammary syndrome</a></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/39768905">Surgical Treatment of Post-Traumatic Radio-Ulnar Synostosis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Gavrilă MT,
Cristea V,
Smarandache CG,
Ștefan C</span><br />
<span class="medgenPMjournal">Medicina (Kaunas)</span>
2024 Dec 9;60(12)
doi: 10.3390/medicina60122026.
<span class="bold">PMID: </span><a href="/pubmed/39768905" target="_blank">39768905</a><a href="/pmc/articles/PMC11728161" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/34953066">A genotype and phenotype analysis of SMAD6 mutant patients with radioulnar synostosis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Shen F,
Yang Y,
Li P,
Zheng Y,
Luo Z,
Fu Y,
Zhu G,
Mei H,
Chen S,
Zhu Y</span><br />
<span class="medgenPMjournal">Mol Genet Genomic Med</span>
2022 Jan;10(1):e1850.
Epub 2021 Dec 24
doi: 10.1002/mgg3.1850.
<span class="bold">PMID: </span><a href="/pubmed/34953066" target="_blank">34953066</a><a href="/pmc/articles/PMC8801148" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/7163242">Genetic counseling in defects of the long bones.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Lenz W</span><br />
<span class="medgenPMjournal">Prog Clin Biol Res</span>
1982;103 Pt B:497-506.
<span class="bold">PMID: </span><a href="/pubmed/7163242" target="_blank">7163242</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(aplasia%20of%20the%20ulna)%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 (16)</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/36068330">Evaluation of the ulna lengthening by distraction osteogenesis in congenital radial deficiency.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Górecki M,
Redman M,
Romanowski L,
Czarnecki P</span><br />
<span class="medgenPMjournal">Eur J Orthop Surg Traumatol</span>
2023 Jul;33(5):1981-1987.
Epub 2022 Sep 6
doi: 10.1007/s00590-022-03381-1.
<span class="bold">PMID: </span><a href="/pubmed/36068330" target="_blank">36068330</a><a href="/pmc/articles/PMC10276120" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/32649440">Complex Monteggia Fractures in the Adult Cohort: Injury and Management.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Kim JM,
London DA</span><br />
<span class="medgenPMjournal">J Am Acad Orthop Surg</span>
2020 Oct 1;28(19):e839-e848.
doi: 10.5435/JAAOS-D-19-00625.
<span class="bold">PMID: </span><a href="/pubmed/32649440" target="_blank">32649440</a></div>
<div class="nl"><a target="_blank" href="/pubmed/27595943">Oligodactyly with Thumb.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Baek GH,
Kim J</span><br />
<span class="medgenPMjournal">J Hand Surg Asian Pac Vol</span>
2016 Oct;21(3):283-91.
doi: 10.1142/S2424835516400087.
<span class="bold">PMID: </span><a href="/pubmed/27595943" target="_blank">27595943</a></div>
<div class="nl"><a target="_blank" href="/pubmed/641954">Familial radioulnar synostosis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Spritz RA</span><br />
<span class="medgenPMjournal">J Med Genet</span>
1978 Apr;15(2):160-2.
doi: 10.1136/jmg.15.2.160.
<span class="bold">PMID: </span><a href="/pubmed/641954" target="_blank">641954</a><a href="/pmc/articles/PMC1013669" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/818089">Ulnar dysmelia.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Ogden JA,
Watson HK,
Bohne W</span><br />
<span class="medgenPMjournal">J Bone Joint Surg Am</span>
1976 Jun;58(4):467-75.
<span class="bold">PMID: </span><a href="/pubmed/818089" target="_blank">818089</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Aplasia%20of%20the%20ulna%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 (223)</a></div><h3 class="subhead">Diagnosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/33826558">Congenital Radioulnar Synostosis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Rutkowski PT,
Samora JB</span><br />
<span class="medgenPMjournal">J Am Acad Orthop Surg</span>
2021 Jul 1;29(13):563-570.
doi: 10.5435/JAAOS-D-20-01133.
<span class="bold">PMID: </span><a href="/pubmed/33826558" target="_blank">33826558</a></div>
<div class="nl"><a target="_blank" href="/pubmed/29870420">Missed Pediatric Monteggia Fractures.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Hubbard J,
Chauhan A,
Fitzgerald R,
Abrams R,
Mubarak S,
Sangimino M</span><br />
<span class="medgenPMjournal">JBJS Rev</span>
2018 Jun;6(6):e2.
doi: 10.2106/JBJS.RVW.17.00116.
<span class="bold">PMID: </span><a href="/pubmed/29870420" target="_blank">29870420</a></div>
<div class="nl"><a target="_blank" href="/pubmed/11980346">Congenital malformations of the hand and forearm.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Buck-Gramcko D</span><br />
<span class="medgenPMjournal">Chir Main</span>
2002 Mar;21(2):70-101.
doi: 10.1016/s1297-3203(02)00103-8.
<span class="bold">PMID: </span><a href="/pubmed/11980346" target="_blank">11980346</a></div>
<div class="nl"><a target="_blank" href="/pubmed/1205348">The Madelung deformity.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Matev I,
Karagancheva S</span><br />
<span class="medgenPMjournal">Hand</span>
1975 Jun;7(2):152-8.
<span class="bold">PMID: </span><a href="/pubmed/1205348" target="_blank">1205348</a></div>
<div class="nl"><a target="_blank" href="/pubmed/5303345">Thanatophoric dwarfism.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Giedion A</span><br />
<span class="medgenPMjournal">Helv Paediatr Acta</span>
1968 Apr;23(2):175-83.
<span class="bold">PMID: </span><a href="/pubmed/5303345" target="_blank">5303345</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Aplasia%20of%20the%20ulna%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 (227)</a></div><h3 class="subhead">Therapy</h3>
<div class="nl"><a target="_blank" href="/pubmed/29257019">Correction of "Wrist" Deformity in Radial Dysplasia: A Systematic Review and Meta-Analysis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Murphy GRF,
Logan MPO,
Smith G,
Sivakumar B,
Smith P</span><br />
<span class="medgenPMjournal">J Bone Joint Surg Am</span>
2017 Dec 20;99(24):2120-2126.
doi: 10.2106/JBJS.17.00164.
<span class="bold">PMID: </span><a href="/pubmed/29257019" target="_blank">29257019</a><a href="/pmc/articles/PMC5805276" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/851600">Unilateral and asymmetric limb defects in man: delineation of the femur-fibula-ulna complex.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Lenz W,
Feldmann U</span><br />
<span class="medgenPMjournal">Birth Defects Orig Artic Ser</span>
1977;13(1):269-85.
<span class="bold">PMID: </span><a href="/pubmed/851600" target="_blank">851600</a></div>
<div class="nl"><a target="_blank" href="/pubmed/5820783">Dysmelia. A classification and a pattern of malformation in a group of congenital defects of the limbs.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Henkel L,
Willert HG</span><br />
<span class="medgenPMjournal">J Bone Joint Surg Br</span>
1969 Aug;51(3):399-414.
<span class="bold">PMID: </span><a href="/pubmed/5820783" target="_blank">5820783</a></div>
<div class="nl"><a target="_blank" href="/pubmed/5787714">Reconstructive surgery of major congenital skeletal deformities of the limbs.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Sharrard WJ</span><br />
<span class="medgenPMjournal">Dev Med Child Neurol</span>
1969 Apr;11(2):153-61.
doi: 10.1111/j.1469-8749.1969.tb01414.x.
<span class="bold">PMID: </span><a href="/pubmed/5787714" target="_blank">5787714</a></div>
<div class="nl"><a target="_blank" href="/pubmed/4975333">Cataract extraction in the presence of pulsating exophthalmos.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Watson AG,
Sholdra EP</span><br />
<span class="medgenPMjournal">J Phys Chem</span>
1969 Feb;73(2):381-4.
<span class="bold">PMID: </span><a href="/pubmed/4975333" target="_blank">4975333</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Aplasia%20of%20the%20ulna%22%20AND%20Therapy%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (54)</a></div><h3 class="subhead">Prognosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/32649440">Complex Monteggia Fractures in the Adult Cohort: Injury and Management.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Kim JM,
London DA</span><br />
<span class="medgenPMjournal">J Am Acad Orthop Surg</span>
2020 Oct 1;28(19):e839-e848.
doi: 10.5435/JAAOS-D-19-00625.
<span class="bold">PMID: </span><a href="/pubmed/32649440" target="_blank">32649440</a></div>
<div class="nl"><a target="_blank" href="/pubmed/11980346">Congenital malformations of the hand and forearm.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Buck-Gramcko D</span><br />
<span class="medgenPMjournal">Chir Main</span>
2002 Mar;21(2):70-101.
doi: 10.1016/s1297-3203(02)00103-8.
<span class="bold">PMID: </span><a href="/pubmed/11980346" target="_blank">11980346</a></div>
<div class="nl"><a target="_blank" href="/pubmed/11411879">Madelung's deformity.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Peh WC</span><br />
<span class="medgenPMjournal">Am J Orthop (Belle Mead NJ)</span>
2001 Jun;30(6):512.
<span class="bold">PMID: </span><a href="/pubmed/11411879" target="_blank">11411879</a></div>
<div class="nl"><a target="_blank" href="/pubmed/873970">Centralization of the ulna for congenital radial hemimelia: a case report.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Zaricznyj B</span><br />
<span class="medgenPMjournal">J Bone Joint Surg Am</span>
1977 Jul;59(5):694-5.
<span class="bold">PMID: </span><a href="/pubmed/873970" target="_blank">873970</a></div>
<div class="nl"><a target="_blank" href="/pubmed/818089">Ulnar dysmelia.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Ogden JA,
Watson HK,
Bohne W</span><br />
<span class="medgenPMjournal">J Bone Joint Surg Am</span>
1976 Jun;58(4):467-75.
<span class="bold">PMID: </span><a href="/pubmed/818089" target="_blank">818089</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Aplasia%20of%20the%20ulna%22%20AND%20Prognosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (126)</a></div><h3 class="subhead">Clinical prediction guides</h3>
<div class="nl"><a target="_blank" href="/pubmed/33826558">Congenital Radioulnar Synostosis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Rutkowski PT,
Samora JB</span><br />
<span class="medgenPMjournal">J Am Acad Orthop Surg</span>
2021 Jul 1;29(13):563-570.
doi: 10.5435/JAAOS-D-20-01133.
<span class="bold">PMID: </span><a href="/pubmed/33826558" target="_blank">33826558</a></div>
<div class="nl"><a target="_blank" href="/pubmed/29257019">Correction of "Wrist" Deformity in Radial Dysplasia: A Systematic Review and Meta-Analysis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Murphy GRF,
Logan MPO,
Smith G,
Sivakumar B,
Smith P</span><br />
<span class="medgenPMjournal">J Bone Joint Surg Am</span>
2017 Dec 20;99(24):2120-2126.
doi: 10.2106/JBJS.17.00164.
<span class="bold">PMID: </span><a href="/pubmed/29257019" target="_blank">29257019</a><a href="/pmc/articles/PMC5805276" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/27595943">Oligodactyly with Thumb.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Baek GH,
Kim J</span><br />
<span class="medgenPMjournal">J Hand Surg Asian Pac Vol</span>
2016 Oct;21(3):283-91.
doi: 10.1142/S2424835516400087.
<span class="bold">PMID: </span><a href="/pubmed/27595943" target="_blank">27595943</a></div>
<div class="nl"><a target="_blank" href="/pubmed/9526157">Ulnar ray deficiency.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Schmidt CC,
Neufeld SK</span><br />
<span class="medgenPMjournal">Hand Clin</span>
1998 Feb;14(1):65-76.
<span class="bold">PMID: </span><a href="/pubmed/9526157" target="_blank">9526157</a></div>
<div class="nl"><a target="_blank" href="/pubmed/818089">Ulnar dysmelia.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Ogden JA,
Watson HK,
Bohne W</span><br />
<span class="medgenPMjournal">J Bone Joint Surg Am</span>
1976 Jun;58(4):467-75.
<span class="bold">PMID: </span><a href="/pubmed/818089" target="_blank">818089</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Aplasia%20of%20the%20ulna%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 (157)</a></div></div>
</div>
<div class="portlet mgSection" id="ID_104">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln">
<div class="nl"><a target="_blank" href="/pubmed/33315801">Results after treatment of congenital radioulnar synostosis: a systematic review and pooled data analysis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Barik S,
Farr S,
Gallone G,
Zarantonello P,
Trisolino G,
Di Gennaro GL</span><br />
<span class="medgenPMjournal">J Pediatr Orthop B</span>
2021 Nov 1;30(6):593-600.
doi: 10.1097/BPB.0000000000000841.
<span class="bold">PMID: </span><a href="/pubmed/33315801" target="_blank">33315801</a><a href="/pmc/articles/PMC8480519" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/32000610">Olecranon Fracture through Persistent Olecranon Apophysis in a 21-Year-Old Male: A Case Report and Systematic Review of the Literature.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Twu J,
Landy DC,
Wolf JM</span><br />
<span class="medgenPMjournal">J Hand Surg Asian Pac Vol</span>
2020 Mar;25(1):110-113.
doi: 10.1142/S2424835520720017.
<span class="bold">PMID: </span><a href="/pubmed/32000610" target="_blank">32000610</a></div>
<div class="nl"><a target="_blank" href="/pubmed/29257019">Correction of "Wrist" Deformity in Radial Dysplasia: A Systematic Review and Meta-Analysis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Murphy GRF,
Logan MPO,
Smith G,
Sivakumar B,
Smith P</span><br />
<span class="medgenPMjournal">J Bone Joint Surg Am</span>
2017 Dec 20;99(24):2120-2126.
doi: 10.2106/JBJS.17.00164.
<span class="bold">PMID: </span><a href="/pubmed/29257019" target="_blank">29257019</a><a href="/pmc/articles/PMC5805276" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/23825029">Clinical prevalence of palmaris longus agenesis: a systematic review and meta-analysis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Yammine K</span><br />
<span class="medgenPMjournal">Clin Anat</span>
2013 Sep;26(6):709-18.
Epub 2013 Jul 3
doi: 10.1002/ca.22289.
<span class="bold">PMID: </span><a href="/pubmed/23825029" target="_blank">23825029</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Aplasia%20of%20the%20ulna%22%20AND%20systematic%5Bsb%5D%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (4)</a></div></div>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C2678397%5bDISCUI%5d&amp;filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (9)</a></li>
<li><a href="/gtr/tests?term=C2678397%5bDISCUI%5d&amp;filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (9)</a></li>
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