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<!--
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UID=854358
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ConceptID=C3887496
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Oligodactyly</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>854358</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.">C3887496</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>HPO:</td>
|
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<td><a target="_blank" title="Human Phenotype Ontology" href="https://hpo.jax.org/app/browse/term/HP:0012165">HP:0012165</a></td></tr>
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<div class="portlet_content ln">A developmental defect resulting in the presence of fewer than the normal number of digits. [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_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 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">Oligodactyly</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="TLline"><a href="/medgen/868065" ref="tree=MeSH" title="MedGen record for Abnormality of limb bone">Abnormality of limb bone</a></span><ul><li><span class="TLline"><a href="/medgen/904271" ref="tree=MeSH" title="MedGen record for Abnormal limb bone morphology">Abnormal limb bone morphology</a></span><ul><li><span class="TLline"><a href="/medgen/763618" ref="tree=MeSH" title="MedGen record for Abnormal digit morphology">Abnormal digit morphology</a></span><ul><li><span class="matched_ds">Oligodactyly</span><ul><li><span class="TLline"><a href="/medgen/923973" ref="tree=MeSH" title="MedGen record for Foot oligodactyly">Foot oligodactyly</a></span><ul><li><span class="TLline"><a href="/medgen/867513" ref="tree=MeSH" title="MedGen record for Foot monodactyly">Foot monodactyly</a></span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
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<div class="portlet mgSection" id="ID_112">
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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">
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<div class="divPopper rprt" id="rdis_120514"><div><strong>Pallister-Hall syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>120514</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0265220</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">GLI3-related Pallister-Hall syndrome (GLI3-PHS) is characterized by a spectrum of anomalies ranging from polydactyly, asymptomatic bifid epiglottis, and hypothalamic hamartoma at the mild end to laryngotracheal cleft with neonatal lethality at the severe end. Individuals with mild GLI3-PHS may be incorrectly diagnosed as having isolated postaxial polydactyly type A. Individuals with GLI3-PHS can have pituitary insufficiency and may die as neonates from undiagnosed and untreated adrenal insufficiency.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/120514">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_120532"><div><strong>Baller-Gerold syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>120532</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.">C0265308</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Baller-Gerold syndrome (BGS) can be suspected at birth in an infant with craniosynostosis and upper limb abnormality. The coronal suture is most commonly affected; the metopic, lambdoid, and sagittal sutures may also be involved alone or in combination. Upper limb abnormality can include a combination of thumb hypo- or aplasia and radial hypo- or aplasia and may be asymmetric. Malformation or absence of carpal or metacarpal bones has also been described. Skin lesions may appear anytime within the first few years after birth, typically beginning with erythema of the face and extremities and evolving into poikiloderma. Slow growth is apparent in infancy with eventual height and length typically at 4 SD below the mean.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/120532">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_337894"><div><strong>Bartsocas-Papas syndrome 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>337894</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1849718</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Bartsocas-Papas syndrome-1 (BPS1) is an autosomal recessive disorder characterized by multiple popliteal pterygia, ankyloblepharon, filiform bands between the jaws, cleft lip and palate, and syndactyly. Early lethality is common, although survival into childhood and beyond has been reported (summary by Mitchell et al., 2012). Genetic Heterogeneity of Bartsocas-Papas Syndrome Bartsocas-Papas syndrome-2 (BPS2) is caused by mutation in the CHUK gene (600664). A less severe form of popliteal pterygium syndrome (PPS; 119500) is caused by mutation in the IRF6 gene (607199).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/337894">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_377836"><div><strong>Brachydactyly-syndactyly syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>377836</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.">C1853137</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Brachydactyly-syndactyly, Zhao type is a recently described syndrome associating a brachydactyly type A4 (short middle phalanges of the 2nd and 5th fingers and absence of middle phalanges of the 2nd to 5th toes) and a syndactyly of the 2nd and 3rd toes. Metacarpals and metatarsals anomalies are common.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/377836">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_381553"><div><strong>Microcephaly-micromelia syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>381553</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.">C1855079</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Microcephaly-micromelia syndrome (MIMIS) is a severe autosomal recessive disorder that usually results in death in utero or in the perinatal period. Affected individuals have severe growth retardation with microcephaly and variable malformations of the limbs, particularly the upper limbs. Defects include radial ray anomalies, malformed digits, and clubfeet (summary by Evrony et al., 2017).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/381553">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_349730"><div><strong>Acrofacial dysostosis Rodriguez type</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>349730</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.">C1860119</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A multiple malformation syndrome in which mandibulofacial dysostosis and severe limb reduction defects are associated with complex malformations of different organs and systems especially the central nervous system, urogenital tract, heart, and lungs. The mandibulofacial defect causes death by respiratory distress. Limb reduction is severe and includes shoulder and pelvis hypoplasia, phocomelia with humerus hypoplasia, absent radius and ulna, complete absence of long bones of the legs, and various hand anomalies, predominantly preaxial reduction. These infants also show facial dysmorphism and ear anomalies. The condition is a rare with an autosomal recessive mode of inheritance. The prognosis is poor and this condition leads to death in utero or shortly after birth.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/349730">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_390813"><div><strong>Chromosome 17P13.3, telomeric, duplication syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>390813</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.">C2675492</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/390813">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_414444"><div><strong>Santos syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>414444</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.">C2751698</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Santos syndrome is characterized by short stature due to fibular agenesis or hypoplasia, clubfeet with oligodactyly, acromial dimples, limited range of motion in the forearms and/or hands, and severe nail hypoplasia or anonychia that may be associated with brachydactyly. Preaxial polydactyly has also been observed (Santos et al., 2008). Overlapping limb reduction syndromes, more severe in nature, that are also caused by homozygous mutation in the WNT7A gene include Al-Awadi/Raas-Rothschild syndrome (AARRS; 276820), characterized by absence of ulna and fibula with severe limb deficiency, and Fuhrmann syndrome (228930), characterized by fibular aplasia or hypoplasia, femoral bowing, and poly-, syn-, and oligodactyly.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/414444">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_482359"><div><strong>Lethal occipital encephalocele-skeletal dysplasia syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>482359</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.">C3280729</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Lethal occipital encephalocele-skeletal dysplasia syndrome is a rare, genetic, bone development disorder characterized by occipital and parietal bone hypoplasia leading to occipital encephalocele, calvarial mineralization defects, craniosynostosis, radiohumeral fusions, oligodactyly and other skeletal anomalies (arachnodactyly, terminal phalangeal aplasia of the thumbs, bilateral absence of the great toes, pronounced bilateral angulation of femora, shortened limbs, advanced osseous maturation). Fetal death in utero is associated.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/482359">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1645760"><div><strong>Cornelia de Lange syndrome 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1645760</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4551851</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Cornelia de Lange syndrome (CdLS) encompasses a spectrum of findings from mild to severe. Severe (classic) CdLS is characterized by distinctive facial features, growth restriction (prenatal onset; <5th centile throughout life), hypertrichosis, and upper-limb reduction defects that range from subtle phalangeal abnormalities to oligodactyly (missing digits). Craniofacial features include synophrys, highly arched and/or thick eyebrows, long eyelashes, short nasal bridge with anteverted nares, small widely spaced teeth, and microcephaly. Individuals with a milder phenotype have less severe growth, cognitive, and limb involvement, but often have facial features consistent with CdLS. Across the CdLS spectrum IQ ranges from below 30 to 102 (mean: 53). Many individuals demonstrate autistic and self-destructive tendencies. Other frequent findings include cardiac septal defects, gastrointestinal dysfunction, hearing loss, myopia, and cryptorchidism or hypoplastic genitalia.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1645760">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1810348"><div><strong>Tessadori-van Haaften neurodevelopmental syndrome 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1810348</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.">C5676922</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Tessadori-Bicknell-van Haaften neurodevelopmental syndrome-1 (TEBIVANED1) is characterized by poor overall growth with short stature, microcephaly, hypotonia, profound global developmental delay often with poor or absent speech, and characteristic dysmorphic facial features, including hypertelorism and abnormal nose. Other variable neurologic and systemic features may also occur (Tessadori et al., 2017). Genetic Heterogeneity of Tessadori-van Haaften Neurodevelopmental Syndrome See also TEBIVANED2 (619759), caused by mutation in the H4C11 gene (602826); TEBIVANED3 (619950), caused by mutation in the H4C5 gene (602830); and TEBIVANED4 (619951), caused by mutation in the H4C9 gene (602833).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1810348">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_349730" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Acrofacial dysostosis Rodriguez type</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_120532" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Baller-Gerold syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_337894" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Bartsocas-Papas syndrome 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_377836" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Brachydactyly-syndactyly syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_390813" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Chromosome 17P13.3, telomeric, duplication syndrome</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (11)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1645760" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cornelia de Lange syndrome 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_482359" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Lethal occipital encephalocele-skeletal dysplasia syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_381553" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Microcephaly-micromelia syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_120514" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pallister-Hall syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_414444" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Santos syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1810348" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Tessadori-van Haaften neurodevelopmental syndrome 1</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/23091259">Unilateral hand oligodactyly: prenatal diagnosis with 3-dimensional sonography.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Morales Roselló J,
|
||
García Almela A,
|
||
Pérez Corella DA,
|
||
Montesinos Sepúlveda L</span><br />
|
||
<span class="medgenPMjournal">J Ultrasound Med</span>
|
||
2012 Nov;31(11):1856-7.
|
||
doi: 10.7863/jum.2012.31.11.1856.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23091259" target="_blank">23091259</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20665529">Brachmann-de Lange syndrome: definition of prenatal sonographic features to facilitate definitive prenatal diagnosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pajkrt E,
|
||
Griffin DR,
|
||
Chitty LS</span><br />
|
||
<span class="medgenPMjournal">Prenat Diagn</span>
|
||
2010 Sep;30(9):865-72.
|
||
doi: 10.1002/pd.2577.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20665529" target="_blank">20665529</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22oligodactyly%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (2)</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/37062949">Congenital adactyly and oligodactyly with metatarsal hypoplasia in two rhesus monkeys.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Meireles BCS,
|
||
Goldschmidt B,
|
||
Leal GM,
|
||
Dias F,
|
||
Cordeiro NF,
|
||
Filho PRF,
|
||
Barros ML</span><br />
|
||
<span class="medgenPMjournal">J Med Primatol</span>
|
||
2023 Jun;52(3):205-209.
|
||
Epub 2023 Apr 16
|
||
doi: 10.1111/jmp.12643.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37062949" target="_blank">37062949</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31542953">Extremity Findings of Methotrexate Embryopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mantilla-Rivas E,
|
||
Brennan A,
|
||
Goldrich A,
|
||
Bryant JR,
|
||
Oh AK,
|
||
Rogers GF</span><br />
|
||
<span class="medgenPMjournal">Hand (N Y)</span>
|
||
2020 Jan;15(1):NP14-NP21.
|
||
Epub 2019 Sep 22
|
||
doi: 10.1177/1558944719837657.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31542953" target="_blank">31542953</a><a href="/pmc/articles/PMC6966302" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27622494">Altered mRNA Splicing, Chondrocyte Gene Expression and Abnormal Skeletal Development due to SF3B4 Mutations in Rodriguez Acrofacial Dysostosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Marques F,
|
||
Tenney J,
|
||
Duran I,
|
||
Martin J,
|
||
Nevarez L,
|
||
Pogue R,
|
||
Krakow D,
|
||
Cohn DH,
|
||
Li B</span><br />
|
||
<span class="medgenPMjournal">PLoS Genet</span>
|
||
2016 Sep;12(9):e1006307.
|
||
Epub 2016 Sep 13
|
||
doi: 10.1371/journal.pgen.1006307.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27622494" target="_blank">27622494</a><a href="/pmc/articles/PMC5021280" 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/27554863">Paleodysmorphology and paleoteratology: Diagnosing and interpreting congenital conditions of the skeleton in anthropological contexts.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Oostra RJ,
|
||
Boer L,
|
||
van der Merwe AE</span><br />
|
||
<span class="medgenPMjournal">Clin Anat</span>
|
||
2016 Oct;29(7):878-91.
|
||
Epub 2016 Sep 7
|
||
doi: 10.1002/ca.22769.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27554863" target="_blank">27554863</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Oligodactyly%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 (17)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35181938">Trichorhinophalangeal syndrome type II associated with aplasia cutis congenita in a neonate.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tripodi GD,
|
||
Dickerman DI,
|
||
LeMosy EK,
|
||
Davis LS</span><br />
|
||
<span class="medgenPMjournal">Pediatr Dermatol</span>
|
||
2022 May;39(3):481-482.
|
||
Epub 2022 Feb 18
|
||
doi: 10.1111/pde.14934.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35181938" target="_blank">35181938</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31067494">Ophthalmo-acromelic syndrome in an infant.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ürel-Demir G,
|
||
Taşkıran EZ,
|
||
Akgün-Doğan Ö,
|
||
Şimşek-Kiper PÖ,
|
||
Utine GE</span><br />
|
||
<span class="medgenPMjournal">Eur J Med Genet</span>
|
||
2019 Jul;62(7):103664.
|
||
Epub 2019 May 5
|
||
doi: 10.1016/j.ejmg.2019.05.003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31067494" target="_blank">31067494</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29427337">Non-syndromic bilateral ulnar aplasia with humero-radial synostosis and oligo-ectro-dactyly.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">McVeigh TP,
|
||
Soye JA,
|
||
Gordon E,
|
||
Lynch SA</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2018 May;176(5):1180-1183.
|
||
Epub 2018 Feb 10
|
||
doi: 10.1002/ajmg.a.38632.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29427337" target="_blank">29427337</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27554863">Paleodysmorphology and paleoteratology: Diagnosing and interpreting congenital conditions of the skeleton in anthropological contexts.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Oostra RJ,
|
||
Boer L,
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Oligodactyly%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 (12)</a></div><h3 class="subhead">Clinical prediction guides</h3>
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<div class="nl"><a target="_blank" href="/pubmed/27622494">Altered mRNA Splicing, Chondrocyte Gene Expression and Abnormal Skeletal Development due to SF3B4 Mutations in Rodriguez Acrofacial Dysostosis.</a></div>
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Tenney J,
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Epub 2016 Sep 13
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<div class="nl"><a target="_blank" href="/pubmed/27595943">Oligodactyly with Thumb.</a></div>
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<span class="bold">PMID: </span><a href="/pubmed/10946363" target="_blank">10946363</a></div>
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|
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Oligodactyly%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 (23)</a></div></div>
|
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|
||
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<h2 class="offscreen_noflow">Supplemental Content</h2>
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