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<!--
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||
UID=923973
|
||
ConceptID=C4281601
|
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-->
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<!--imgCountBooks = 0--><div class="ncbi_carousel" data-ncbicarousel-config="imageWidth:'100px',numItemsVisible:2,toggler:false"><div class="nc_header"><span class="img_strip_title">Image</span></div><div class="nc_content"><div class="nc_item"><a class="figpopup"><img alt="Figure 1" src="/projects/medgen/images/thumb/d0afa3f330b8884b.1.thumb.jpg" src-large="/projects/medgen/images/d0afa3f330b8884b.1.jpg" /></a><br /><a href="http://elementsofmorphology.nih.gov/index.cgi?tid=d0afa3f330b8884b" target="_blank" title="Elements of Morphology: Human Malformation Terminology - NHGRI">details</a></div></div></div><h1 class="medgenTitle"><div class="MedGenTitleText">Foot oligodactyly</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>923973</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.">C4281601</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
||
<td>Missing toes</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:0001849">HP:0001849</a></td></tr>
|
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</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>
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|
||
<div class="portlet_content ln">A developmental defect resulting in the presence of fewer than the normal number of toes. [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_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=C4281601[DISCUI]&test_type=Clinical" ref="ncbi_uid=923973">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">Foot 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="TLline"><a href="/medgen/854358" ref="tree=MeSH" title="MedGen record for Oligodactyly">Oligodactyly</a></span><ul><li><span class="matched_ds">Foot oligodactyly</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">
|
||
<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_42055"><div><strong>Focal dermal hypoplasia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>42055</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."><span class="highlight" style="background-color:">C0016395</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">PORCN-related developmental disorders include a spectrum of highly variable multisystem disorders caused by developmental abnormalities in mesodermal and ectodermal structures primarily involving the skin, limbs, eyes, and face. The manifestations vary among affected individuals, and many have only a subset of the characteristic features. Skin manifestations present at birth include atrophic and hypoplastic areas of skin; cutis aplasia; fat nodules in the dermis manifesting as soft, yellow-pink cutaneous nodules; and pigmentary changes. Verrucous papillomas of the skin and mucous membranes may appear later. The nails can be ridged, dysplastic, or hypoplastic; hair can be sparse or absent. Limb malformations include oligo- and syndactyly and split hand/foot. Developmental abnormalities of the eye can include anophthalmia/microphthalmia, iris and chorioretinal coloboma, and lacrimal duct abnormalities. Craniofacial findings can include facial asymmetry, notched alae nasi, cleft lip and palate, pointed chin, and small, underfolded pinnae. Dental anomalies can include hypodontia, enamel defects, and/or abnormally shaped teeth. Occasional findings include abdominal wall defects, diaphragmatic hernia, and renal anomalies. Psychomotor development is usually normal; some individuals have cognitive impairment and/or behavioral issues.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/42055">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_120519"><div><strong>Nager syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>120519</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.">C0265245</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Nager syndrome is the prototype for a group of disorders collectively referred to as the acrofacial dysostoses (AFDs), which are characterized by malformation of the craniofacial skeleton and the limbs. The major facial features of Nager syndrome include downslanted palpebral fissures, midface retrusion, and micrognathia, the latter of which often requires the placement of a tracheostomy in early childhood. Limb defects typically involve the anterior (radial) elements of the upper limbs and manifest as small or absent thumbs, triphalangeal thumbs, radial hypoplasia or aplasia, and radioulnar synostosis. Phocomelia of the upper limbs and, occasionally, lower-limb defects have also been reported. The presence of anterior upper-limb defects and the typical lack of lower-limb involvement distinguishes Nager syndrome from Miller syndrome (263750), another rare AFD; however, distinguishing Nager syndrome from other AFDs, including Miller syndrome, can be challenging (summary by Bernier et al., 2012).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/120519">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_154638"><div><strong>Microphthalmia with limb anomalies</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>154638</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.">C0599973</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Microphthalmia with limb anomalies (MLA), also known as Waardenburg anophthalmia syndrome or ophthalmoacromelic syndrome (OAS), is a rare autosomal recessive developmental disorder characterized by unilateral or bilateral microphthalmia, clinical anophthalmia, syndactyly, polydactyly, synostosis, or oligodactyly. Long-bone hypoplasia and renal, venous, and vertebral anomalies may also be present. Impaired intellectual development is present in about half of affected individuals (summary by Tekin et al., 2000, Abouzeid et al., 2011).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/154638">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_321957"><div><strong>Amelia cleft lip palate hydrocephalus iris coloboma</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>321957</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.">C1832434</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Brachial amelia, cleft lip, and holoprosencephaly (ACLH) is a severe multiple congenital anomaly disorder characterized by brachial amelia, cleft lip, and forebrain defects consistent with holoprosencephaly. Although the disorder is rarely reported, the features are consistent enough to constitute a distinct entity (summary by Kariminejad et al., 2009).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/321957">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="divPopper rprt" id="rdis_340887"><div><strong>Fibular aplasia, tibial campomelia, and oligosyndactyly syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>340887</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.">C1855499</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">FATCO syndrome comprises fibular aplasia, tibial campomelia, and oligosyndactyly (Courtens et al., 2005). See also ectrodactyly (split-hand/foot malformation) associated with fibular hypoplasia/aplasia (113310).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/340887">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_346429"><div><strong>Fuhrmann syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>346429</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.">C1856728</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Fuhrmann syndrome is an autosomal recessive limb reduction disorder characterized by severe bowing of the femora and aplasia or hypoplasia of the fibulae and ulnae. The radius may be shortened and bowed. Patients also exhibit variable poly- and/or oligodactyly, including absence or coalescence of tarsal bones, absence of various metatarsals, hypoplasia and aplasia of toes, clinodactyly, hypoplasia of fingers and fingernails, and postaxial polydactyly. Hypoplasia of the pelvis and congenital dislocation of the hip have also been observed (Fuhrmann et al., 1980; Pfeiffer et al., 1988). Overlapping limb reduction syndromes that are also caused by homozygous mutation in the WNT7A gene include Al-Awadi/Raas-Rothschild syndrome (AARRS; 276820), consisting of absence of ulna and fibula with severe limb deficiency, and Santos syndrome (228930), consisting of 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. AlQattan et al. (2013) also noted that phocomelia is not a feature of Fuhrmann syndrome.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/346429">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_440845"><div><strong>Split hand-foot malformation 6</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>440845</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.">C2749665</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Split-hand/split-foot malformation (SHFM) is a limb malformation involving the central rays of the autopod and presenting with syndactyly, median clefts of the hands and feet, and aplasia and/or hypoplasia of the phalanges, metacarpals, and metatarsals. Some patients with SHFM have been found to have mental retardation, ectodermal and craniofacial findings, and orofacial clefting (Elliott and Evans, 2006). For a general phenotypic description and a discussion of genetic heterogeneity of split-hand/foot malformations, see SHFM1 (183600).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/440845">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_419314"><div><strong>Split hand-foot malformation 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>419314</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.">C2931019</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Split-hand/foot malformation (SHFM) is a limb malformation involving the central rays of the autopod and presenting with syndactyly, median clefts of the hands and feet, and aplasia and/or hypoplasia of the phalanges, metacarpals, and metatarsals. Some patients with SHFM1 have been found to have mental retardation, ectodermal and craniofacial findings, orofacial clefting (Elliott and Evans, 2006), and neurosensory hearing loss (Tackels-Horne et al., 2001). Genetic Heterogeneity of Split-Hand/Foot Malformation Additional SHFM loci include SHFM2 (313350) on chromosome Xq26; SHFM3 (246560), caused by duplication of chromosome 10q24; SHFM4 (605289), caused by mutation in the TP63 gene (603273) on chromosome 3q28; SHFM5 (606708) on chromosome 2q31; and SHFM6 (225300), caused by mutation in the WNT10B gene (601906) on chromosome 12q13. Also see SHFM1D (220600) for a form of SHFM1 with deafness that may be caused by homozygous mutation in the DLX5 gene (600028). Associations Pending Confirmation For discussion of a possible association between split-hand/foot malformation and variation in the EPS15L1 gene, see 616826.0001.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/419314">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_908556"><div><strong>Adams-Oliver syndrome 6</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>908556</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.">C4225271</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Adams-Oliver syndrome is a rare developmental disorder defined by the combination of aplasia cutis congenita of the scalp vertex and terminal transverse limb defects (e.g., amputations, syndactyly, brachydactyly, or oligodactyly). In addition, vascular anomalies such as cutis marmorata telangiectatica congenita, pulmonary hypertension, portal hypertension, and retinal hypervascularization are recurrent findings. Congenital heart defects have been estimated to be present in 20% of AOS patients; reported malformations include ventricular septal defects, anomalies of the great arteries and their valves, and tetralogy of Fallot (summary by Stittrich et al., 2014). For a discussion of genetic heterogeneity of Adams-Oliver syndrome, see AOS1 (100300).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/908556">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1846017"><div><strong>Hoxha-Aliu syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1846017</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.">C5882736</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hoxha-Aliu syndrome (HXAL) is characterized by mildly impaired intellectual development and digital anomalies of the hands and feet (Hoxha and Aliu, 2023; Guo et al., 2023). Biallelic missense mutations in the ERI1 gene have been reported to cause a more severe bone disorder, spondyloepimetaphyseal dysplasia, Guo-Campeau type (SEMDGC; 620663).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1846017">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_908556" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Adams-Oliver syndrome 6</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_321957" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Amelia cleft lip palate hydrocephalus iris coloboma</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_340887" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Fibular aplasia, tibial campomelia, and oligosyndactyly syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_42055" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Focal dermal hypoplasia</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_346429" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Fuhrmann 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_1846017" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hoxha-Aliu syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_154638" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Microphthalmia with limb anomalies</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_120519" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Nager 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_419314" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Split hand-foot malformation 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_440845" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Split hand-foot malformation 6</a></div></span></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/16088165">CHILD syndrome caused by a deletion of exons 6-8 of the NSDHL gene.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kim CA,
|
||
Konig A,
|
||
Bertola DR,
|
||
Albano LM,
|
||
Gattás GJ,
|
||
Bornholdt D,
|
||
Leveleki L,
|
||
Happle R,
|
||
Grzeschik KH</span><br />
|
||
<span class="medgenPMjournal">Dermatology</span>
|
||
2005;211(2):155-8.
|
||
doi: 10.1159/000086448.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16088165" target="_blank">16088165</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Foot%20oligodactyly%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/24874887">Severe ipsilateral musculoskeletal involvement in a Cornelia de Lange patient with a novel NIPBL mutation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Baquero-Montoya C,
|
||
Gil-Rodríguez MC,
|
||
Hernández-Marcos M,
|
||
Teresa-Rodrigo ME,
|
||
Vicente-Gabas A,
|
||
Bernal ML,
|
||
Casale CH,
|
||
Bueno-Lozano G,
|
||
Bueno-Martínez I,
|
||
Queralt E,
|
||
Villa O,
|
||
Hernando-Davalillo C,
|
||
Armengol L,
|
||
Gómez-Puertas P,
|
||
Puisac B,
|
||
Selicorni A,
|
||
Ramos FJ,
|
||
Pié J</span><br />
|
||
<span class="medgenPMjournal">Eur J Med Genet</span>
|
||
2014 Sep;57(9):503-9.
|
||
Epub 2014 May 27
|
||
doi: 10.1016/j.ejmg.2014.05.006.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24874887" target="_blank">24874887</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19940764">Prenatal and postnatal growth retardation, depressed nasal tip, oligodactyly, and mental retardation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Monti E,
|
||
Hennekam RCM</span><br />
|
||
<span class="medgenPMjournal">Clin Dysmorphol</span>
|
||
2010 Jan;19(1):40-42.
|
||
doi: 10.1097/MCD.0b013e328333c220.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19940764" target="_blank">19940764</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/14564221">Unusual combination of limb malformations in the same patient: brachydactyly with syndactyly and postaxial polydactyly of the hands and postaxial oligodactyly of the feet.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ferda Percin E,
|
||
Yilmaz S</span><br />
|
||
<span class="medgenPMjournal">Clin Dysmorphol</span>
|
||
2003 Oct;12(4):283-4.
|
||
doi: 10.1097/00019605-200310000-00016.
|
||
<span class="bold">PMID: </span><a href="/pubmed/14564221" target="_blank">14564221</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/7573150">Anophthalmos-syndactyly (Waardenburg) syndrome without oligodactyly of toes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sayli BS,
|
||
Akarsu AN,
|
||
Altan S</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet</span>
|
||
1995 Jul 31;58(1):18-20.
|
||
doi: 10.1002/ajmg.1320580105.
|
||
<span class="bold">PMID: </span><a href="/pubmed/7573150" target="_blank">7573150</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/3895927">Prenatal diagnosis of Weyers syndrome (deficient ulnar and fibular rays with bilateral hydronephrosis).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Elejalde BR,
|
||
de Elejalde MM,
|
||
Booth C,
|
||
Kaye C,
|
||
Hollison L</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet</span>
|
||
1985 Jul;21(3):439-44.
|
||
doi: 10.1002/ajmg.1320210305.
|
||
<span class="bold">PMID: </span><a href="/pubmed/3895927" target="_blank">3895927</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Foot%20oligodactyly%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 (12)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/24874887">Severe ipsilateral musculoskeletal involvement in a Cornelia de Lange patient with a novel NIPBL mutation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Baquero-Montoya C,
|
||
Gil-Rodríguez MC,
|
||
Hernández-Marcos M,
|
||
Teresa-Rodrigo ME,
|
||
Vicente-Gabas A,
|
||
Bernal ML,
|
||
Casale CH,
|
||
Bueno-Lozano G,
|
||
Bueno-Martínez I,
|
||
Queralt E,
|
||
Villa O,
|
||
Hernando-Davalillo C,
|
||
Armengol L,
|
||
Gómez-Puertas P,
|
||
Puisac B,
|
||
Selicorni A,
|
||
Ramos FJ,
|
||
Pié J</span><br />
|
||
<span class="medgenPMjournal">Eur J Med Genet</span>
|
||
2014 Sep;57(9):503-9.
|
||
Epub 2014 May 27
|
||
doi: 10.1016/j.ejmg.2014.05.006.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24874887" target="_blank">24874887</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23607868">A case of dichorionic twin pregnancy concordant for bilateral cleft lip and palate and discordant for spina bifida; schisis association.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kutuk MS,
|
||
Ozgun MT,
|
||
Uludag S,
|
||
Akgun H,
|
||
Balta B</span><br />
|
||
<span class="medgenPMjournal">Fetal Pediatr Pathol</span>
|
||
2013 Oct;32(5):371-4.
|
||
Epub 2013 Apr 22
|
||
doi: 10.3109/15513815.2013.789946.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23607868" target="_blank">23607868</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/7726229">Ulnar ray defect in an infant with a 6q21;7q31.2 translocation: further evidence for the existence of a limb defect gene in 6q21.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gurrieri F,
|
||
Cammarata M,
|
||
Avarello RM,
|
||
Genuardi M,
|
||
Pomponi MG,
|
||
Neri G,
|
||
Giuffrè L</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet</span>
|
||
1995 Jan 30;55(3):315-8.
|
||
doi: 10.1002/ajmg.1320550314.
|
||
<span class="bold">PMID: </span><a href="/pubmed/7726229" target="_blank">7726229</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Foot%20oligodactyly%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 (3)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/16088165">CHILD syndrome caused by a deletion of exons 6-8 of the NSDHL gene.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kim CA,
|
||
Konig A,
|
||
Bertola DR,
|
||
Albano LM,
|
||
Gattás GJ,
|
||
Bornholdt D,
|
||
Leveleki L,
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Happle R,
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Grzeschik KH</span><br />
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<span class="medgenPMjournal">Dermatology</span>
|
||
2005;211(2):155-8.
|
||
doi: 10.1159/000086448.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16088165" target="_blank">16088165</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/12643234">Ophthalmo-acromelic syndrome in a Turkish infant: case report.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Caksen H,
|
||
Odabas D,
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Oner AF,
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Abuhandan M,
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Calebi V</span><br />
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2002 Jun;79(6):339-40.
|
||
doi: 10.4314/eamj.v79i6.8856.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12643234" target="_blank">12643234</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Foot%20oligodactyly%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 (2)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/11332981">A case of symbrachydactyly with oligodactyly.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Seven M,
|
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Yuksel A,
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Ozkilic A</span><br />
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<span class="medgenPMjournal">Genet Couns</span>
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2001;12(1):77-83.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11332981" target="_blank">11332981</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10521852">Segregation of digital number with partial monosomy or trisomy of 13q in familial 5;13 translocation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rodríguez de Alba M,
|
||
Sanz R,
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||
Lorda-Sanchez I,
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||
Fernández-Moya JM,
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||
Ayuso C,
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Díaz-Recasens J,
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||
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1999 Sep;19(9):884-6.
|
||
doi: 10.1002/(sici)1097-0223(199909)19:9<884::aid-pd655>3.0.co;2-w.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10521852" target="_blank">10521852</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/7726229">Ulnar ray defect in an infant with a 6q21;7q31.2 translocation: further evidence for the existence of a limb defect gene in 6q21.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gurrieri F,
|
||
Cammarata M,
|
||
Avarello RM,
|
||
Genuardi M,
|
||
Pomponi MG,
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||
Neri G,
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||
Giuffrè L</span><br />
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<span class="medgenPMjournal">Am J Med Genet</span>
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||
1995 Jan 30;55(3):315-8.
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||
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|
||
<span class="bold">PMID: </span><a href="/pubmed/7726229" target="_blank">7726229</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/3777025">Robin sequence and oligodactyly in mother and son.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Robinow M,
|
||
Johnson GF,
|
||
Apesos J</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet</span>
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||
1986 Oct;25(2):293-7.
|
||
doi: 10.1002/ajmg.1320250214.
|
||
<span class="bold">PMID: </span><a href="/pubmed/3777025" target="_blank">3777025</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Foot%20oligodactyly%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 (4)</a></div></div>
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