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<!--
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UID=1635318
|
||
ConceptID=C4551464
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Aplasia/hypoplasia of the extremities</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1635318</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.">C4551464</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>Absent/small extremities; Absent/underdeveloped extremities; Short or absent limbs; Shortened limbs</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:0009815">HP:0009815</a></td></tr>
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<div class="portlet mgSection" id="ID_100">
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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>
|
||
<div class="portlet_content ln">Absence (due to failure to form) or underdevelopment of the extremities. [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">
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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>
|
||
<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline">Aplasia/hypoplasia of the extremities</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/536898" ref="tree=MeSH" title="MedGen record for Abnormality of limbs">Abnormality of limbs</a></span><ul><li><span class="matched_ds">Aplasia/hypoplasia of the extremities</span><ul><li><span class="TLline"><a href="/medgen/869252" ref="tree=MeSH" title="MedGen record for Acromelia">Acromelia</a></span><ul><li><span class="TLline"><a href="/medgen/869378" ref="tree=MeSH" title="MedGen record for Acromelia of the lower limbs">Acromelia of the lower limbs</a></span></li><li><span class="TLline"><a href="/medgen/869383" ref="tree=MeSH" title="MedGen record for Acromelia of the upper limbs">Acromelia of the upper limbs</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/8014" ref="tree=MeSH" title="MedGen record for Amelia">Amelia</a></span><ul><li><span class="TLline"><a href="/medgen/539370" ref="tree=MeSH" title="MedGen record for Amelia of lower limb">Amelia of lower limb</a></span></li><li><span class="TLline"><a href="/medgen/539335" ref="tree=MeSH" title="MedGen record for Amelia of upper limb">Amelia of upper limb</a></span></li><li><span class="TLline"><a href="/medgen/444004" ref="tree=MeSH" title="MedGen record for Tetraamelia">Tetraamelia</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/892895" ref="tree=MeSH" title="MedGen record for Aplasia/hypoplasia involving bones of the extremities">Aplasia/hypoplasia involving bones of the extremities</a></span><ul><li><span class="TLline"><a href="/medgen/869764" ref="tree=MeSH" title="MedGen record for Aplasia involving bones of the extremities">Aplasia involving bones of the extremities</a></span><ul><li><span class="TLline"><a href="/medgen/869769" ref="tree=MeSH" title="MedGen record for Aplasia involving bones of the lower limbs">Aplasia involving bones of the lower limbs</a></span></li><li><span class="TLline"><a href="/medgen/869765" ref="tree=MeSH" title="MedGen record for Aplasia involving bones of the upper limbs">Aplasia involving bones of the upper limbs</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/870588" ref="tree=MeSH" title="MedGen record for Aplasia/hypoplasia involving bones of the lower limbs">Aplasia/hypoplasia involving bones of the lower limbs</a></span><ul><li><span class="TLline"><a href="/medgen/870587" ref="tree=MeSH" title="MedGen record for Aplasia/Hypoplasia involving bones of the feet">Aplasia/Hypoplasia involving bones of the feet</a></span></li><li><span class="TLline"><a href="/medgen/376994" ref="tree=MeSH" title="MedGen record for Aplasia/hypoplasia of the femur">Aplasia/hypoplasia of the femur</a></span></li><li><span class="TLline"><a href="/medgen/341608" ref="tree=MeSH" title="MedGen record for Aplasia/Hypoplasia of the fibula">Aplasia/Hypoplasia of the fibula</a></span></li><li><span class="TLline"><a href="/medgen/370609" ref="tree=MeSH" title="MedGen record for Aplasia/Hypoplasia of the tibia">Aplasia/Hypoplasia of the tibia</a></span></li><li><span class="TLline"><a href="/medgen/358246" ref="tree=MeSH" title="MedGen record for Patella aplasia/hypoplasia">Patella aplasia/hypoplasia</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/870586" ref="tree=MeSH" title="MedGen record for Aplasia/hypoplasia involving bones of the upper limbs">Aplasia/hypoplasia involving bones of the upper limbs</a></span><ul><li><span class="TLline"><a href="/medgen/867252" ref="tree=MeSH" title="MedGen record for Aplasia/hypoplasia involving bones of the hand">Aplasia/hypoplasia involving bones of the hand</a></span></li></ul></li></ul></li><li><span class="TLline"><a href="/medgen/116086" ref="tree=MeSH" title="MedGen record for Limb undergrowth">Limb undergrowth</a></span><ul><li><span class="TLline"><a href="/medgen/327072" ref="tree=MeSH" title="MedGen record for Distal shortening of limbs">Distal shortening of limbs</a></span></li><li><span class="TLline"><a href="/medgen/138016" ref="tree=MeSH" title="MedGen record for Lower limb undergrowth">Lower limb undergrowth</a></span><ul><li><span class="TLline"><a href="/medgen/98100" ref="tree=MeSH" title="MedGen record for Short lower limbs">Short lower limbs</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/539327" ref="tree=MeSH" title="MedGen record for Meromelia">Meromelia</a></span></li><li><span class="TLline"><a href="/medgen/107808" ref="tree=MeSH" title="MedGen record for Mesomelia">Mesomelia</a></span><ul><li><span class="TLline"><a href="/medgen/350410" ref="tree=MeSH" title="MedGen record for Acromesomelia">Acromesomelia</a></span></li><li><span class="TLline"><a href="/medgen/350587" ref="tree=MeSH" title="MedGen record for Mesomelic arm shortening">Mesomelic arm shortening</a></span></li><li><span class="TLline"><a href="/medgen/369436" ref="tree=MeSH" title="MedGen record for Mesomelic leg shortening">Mesomelic leg shortening</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/10031" ref="tree=MeSH" title="MedGen record for Micromelia">Micromelia</a></span><ul><li><span class="TLline"><a href="/medgen/331977" ref="tree=MeSH" title="MedGen record for Severe limb shortening">Severe limb shortening</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/357122" ref="tree=MeSH" title="MedGen record for Rhizomelia">Rhizomelia</a></span><ul><li><span class="TLline"><a href="/medgen/356185" ref="tree=MeSH" title="MedGen record for Mesomelic/rhizomelic limb shortening">Mesomelic/rhizomelic limb shortening</a></span></li><li><span class="TLline"><a href="/medgen/392974" ref="tree=MeSH" title="MedGen record for Rhizo-meso-acromelic limb shortening">Rhizo-meso-acromelic limb shortening</a></span></li><li><span class="TLline"><a href="/medgen/409853" ref="tree=MeSH" title="MedGen record for Rhizomelic arm shortening">Rhizomelic arm shortening</a></span></li><li><span class="TLline"><a href="/medgen/868639" ref="tree=MeSH" title="MedGen record for Rhizomelic leg shortening">Rhizomelic leg shortening</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/324789" ref="tree=MeSH" title="MedGen record for Upper limb undergrowth">Upper limb undergrowth</a></span><ul><li><span class="TLline"><a href="/medgen/383651" ref="tree=MeSH" title="MedGen record for Forearm undergrowth">Forearm undergrowth</a></span></li></ul></li></ul></li><li><span class="TLline"><a href="/medgen/869763" ref="tree=MeSH" title="MedGen record for Peromelia">Peromelia</a></span><ul><li><span class="TLline"><a href="/medgen/869767" ref="tree=MeSH" title="MedGen record for Lower limb peromelia">Lower limb peromelia</a></span></li><li><span class="TLline"><a href="/medgen/869770" ref="tree=MeSH" title="MedGen record for Upper limb peromelia">Upper limb peromelia</a></span></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
|
||
</div>
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||
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<div class="portlet mgSection" id="ID_112">
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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="portlet_content ln clinfeat">
|
||
<div class="divPopper rprt" id="rdis_98376"><div><strong>Hypochondroplasia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>98376</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.">C0410529</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hypochondroplasia is a skeletal dysplasia characterized by short stature; stocky build; disproportionately short arms and legs; broad, short hands and feet; mild joint laxity; and macrocephaly. Radiologic features include shortening of long bones with mild metaphyseal flare; narrowing of the inferior lumbar interpedicular distances; short, broad femoral neck; and squared, shortened ilia. The skeletal features are very similar to those seen in achondroplasia but tend to be milder. Medical complications common to achondroplasia (e.g., spinal stenosis, tibial bowing, obstructive apnea) occur less frequently in hypochondroplasia but intellectual disability and epilepsy may be more prevalent. Children usually present as toddlers or at early school age with decreased growth velocity leading to short stature and limb disproportion. Other features also become more prominent over time.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/98376">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) 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). 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. 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. '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="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_98376" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypochondroplasia</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>
|
||
</div>
|
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|
||
<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/25100771">Soft-Tissue Abnormalities Associated with Treatment-Resistant and Treatment-Responsive Clubfoot: Findings of MRI Analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Moon DK,
|
||
Gurnett CA,
|
||
Aferol H,
|
||
Siegel MJ,
|
||
Commean PK,
|
||
Dobbs MB</span><br />
|
||
<span class="medgenPMjournal">J Bone Joint Surg Am</span>
|
||
2014 Aug 6;96(15):1249-1256.
|
||
doi: 10.2106/JBJS.M.01257.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25100771" target="_blank">25100771</a><a href="/pmc/articles/PMC4116564" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(aplasia%2Fhypoplasia%20of%20the%20extremities)%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 (1)</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/28299356">An exome sequencing study of Moebius syndrome including atypical cases reveals an individual with CFEOM3A and a TUBB3 mutation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Patel RM,
|
||
Liu D,
|
||
Gonzaga-Jauregui C,
|
||
Jhangiani S,
|
||
Lu JT,
|
||
Sutton VR,
|
||
Fernbach SD,
|
||
Azamian M,
|
||
White L,
|
||
Edmond JC,
|
||
Paysse EA,
|
||
Belmont JW,
|
||
Muzny D,
|
||
Lupski JR,
|
||
Gibbs RA,
|
||
Lewis RA,
|
||
Lee BH,
|
||
Lalani SR,
|
||
Campeau PM</span><br />
|
||
<span class="medgenPMjournal">Cold Spring Harb Mol Case Stud</span>
|
||
2017 Mar;3(2):a000984.
|
||
doi: 10.1101/mcs.a000984.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28299356" target="_blank">28299356</a><a href="/pmc/articles/PMC5334472" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Aplasia%2Fhypoplasia%20of%20the%20extremities%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 (1)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/28299356">An exome sequencing study of Moebius syndrome including atypical cases reveals an individual with CFEOM3A and a TUBB3 mutation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Patel RM,
|
||
Liu D,
|
||
Gonzaga-Jauregui C,
|
||
Jhangiani S,
|
||
Lu JT,
|
||
Sutton VR,
|
||
Fernbach SD,
|
||
Azamian M,
|
||
White L,
|
||
Edmond JC,
|
||
Paysse EA,
|
||
Belmont JW,
|
||
Muzny D,
|
||
Lupski JR,
|
||
Gibbs RA,
|
||
Lewis RA,
|
||
Lee BH,
|
||
Lalani SR,
|
||
Campeau PM</span><br />
|
||
<span class="medgenPMjournal">Cold Spring Harb Mol Case Stud</span>
|
||
2017 Mar;3(2):a000984.
|
||
doi: 10.1101/mcs.a000984.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28299356" target="_blank">28299356</a><a href="/pmc/articles/PMC5334472" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Aplasia%2Fhypoplasia%20of%20the%20extremities%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 (1)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
<div id="messagearea_bottom">
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</div>
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<div class=" bottom">
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</div>
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</div>
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</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
<div>
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|
||
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<div class="rightCol mgCol">
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<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 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=Aplasia/hypoplasia%20of%20the%20extremities" target="_blank">ClinicalTrials.gov</a></li></ul></div>
|
||
</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>
|
||
<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(aplasia%2Fhypoplasia%20of%20the%20extremities)%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">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul></div>
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<div class="portlet_content ln"><ul><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Aplasia/hypoplasia%20of%20the%20extremities" target="_blank">MedlinePlus</a></li></ul></div>
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<div class="portlet brieflink">
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<div class="portlet_head">
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<h3>Reviews</h3>
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<div class="portlet_content">
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<ul>
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<li>
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<a href="/pubmed/clinical?term=Aplasia/hypoplasia%20of%20the%20extremities" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=2" target="_blank">PubMed Clinical Queries</a>
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</li>
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<li>
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||
<a href="/pubmed?term=Aplasia/hypoplasia%20of%20the%20extremities%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=2" target="_blank">Reviews in PubMed</a>
|
||
</li>
|
||
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|
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<h3>Related information</h3>
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<a class="brieflinkpopperctrl" href="/pmc?LinkName=medgen_pmc&from_uid=1635318" ref="log$=recordlinks">PMC Articles</a>
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<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed&from_uid=1635318" ref="log$=recordlinks">PubMed</a>
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<a href="https://www.nih.gov/institutes-nih/nih-office-director/office-communications-public-liaison/freedom-information-act-office" class="text-white">FOIA</a><br />
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