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<meta name="keywords" content="C1852504, abnormal dental position, abnormal teeth spacing, abnormal tooth position, abnormality of alignment of teeth, abnormality of position of teeth, abnormality of teeth spacing, crooked teeth, finding, malaligned teeth, malposition of teeth, malposition of the teeth, malpositioned teeth, misalignment of teeth, teeth malalignment, teeth, malposition, tooth malposition, tooth misalignment, autosomal dominant, autosomal recessive, birth defects, chromosomal disease, chromosome, clinical features, clinical findings, clinical genetics, clinical recommendations, clinvar, congenital chromosomal disease, consumer genetic resources, cytogenetic location, disease characteristics, disease definitions, disease descriptions, disease ontology, disease synonyms, disease vocabulary, dysmorphology, entrez, familial disease, gene, gene-disease relationship, genereviews, genetic disease, genetic disorder, genetic terminology, genetic testing registry, genetics home reference, genomic disease, gtr, hereditary disease, heritable disease, hpo, human phenotype ontology, inherited disease, management guidelines, maternal inheritance, medgen, medical genetics, medical subject headings, mesh, mitochondrial inheritance, mode of inheritance, national center for biotechnology information, national institutes of health, national library of medicine, ncbi, nih, nlm, omim, ordo, orphanet, paternal inheritance, phenome, position statements, professional practice guidelines, rare disease, reference sequence, refseq, snomed ct, syndrome, undiagnosed diseases, x-linked recessive" /><meta name="description" content="Abnormal alignment, positioning, or spacing of the teeth, i.e., misaligned teeth." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
UID=377692
ConceptID=C1852504
-->
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Tooth malposition</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>377692</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C1852504</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
<td>Misalignment of teeth</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:0000692">HP:0000692</a></td></tr>
</tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
<div class="portlet mgSection" id="ID_100">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln">Abnormal alignment, positioning, or spacing of the teeth, i.e., misaligned teeth. [from <a title="Human Phenotype Ontology" href="http://www.human-phenotype-ontology.org" class="defSource" target="_blank">HPO</a>]</div>
</div>
<div class="portlet mgSection" id="ID_118">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test,  </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test,  </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM,  </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>,  </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar  </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="TLline">Tooth malposition</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/867438" ref="tree=MeSH" title="MedGen record for Abnormality of the head">Abnormality of the head</a></span><ul><li><span class="TLline"><a href="/medgen/871375" ref="tree=MeSH" title="MedGen record for Abnormality of the face">Abnormality of the face</a></span><ul><li><span class="TLline"><a href="/medgen/6447" ref="tree=MeSH" title="MedGen record for Abnormality of the mouth">Abnormality of the mouth</a></span><ul><li><span class="TLline"><a href="/medgen/1645271" ref="tree=MeSH" title="MedGen record for Abnormal oral morphology">Abnormal oral morphology</a></span><ul><li><span class="TLline"><a href="/medgen/871391" ref="tree=MeSH" title="MedGen record for Abnormal oral cavity morphology">Abnormal oral cavity morphology</a></span><ul><li><span class="TLline"><a href="/medgen/78084" ref="tree=MeSH" title="MedGen record for Abnormality of the dentition">Abnormality of the dentition</a></span><ul><li><span class="matched_ds">Tooth malposition</span><ul><li><span class="TLline"><a href="/medgen/66076" ref="tree=MeSH" title="MedGen record for Cross bite">Cross bite</a></span></li><li><span class="TLline"><a href="/medgen/11850" ref="tree=MeSH" title="MedGen record for Dental crowding">Dental crowding</a></span></li><li><span class="TLline"><a href="/medgen/9869" ref="tree=MeSH" title="MedGen record for Dental malocclusion">Dental malocclusion</a></span><ul><li><span class="TLline"><a href="/medgen/96028" ref="tree=MeSH" title="MedGen record for Malocclusion, Angle class I">Malocclusion, Angle class I</a></span></li><li><span class="TLline"><a href="/medgen/811364" ref="tree=MeSH" title="MedGen record for Malocclusion, Angle class II">Malocclusion, Angle class II</a></span><ul><li><span class="TLline"><a href="/medgen/224926" ref="tree=MeSH" title="MedGen record for Brachygnathism">Brachygnathism</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/98316" ref="tree=MeSH" title="MedGen record for Mandibular prognathia">Mandibular prognathia</a></span></li><li><span class="TLline"><a href="/medgen/78589" ref="tree=MeSH" title="MedGen record for Open bite">Open bite</a></span><ul><li><span class="TLline"><a href="/medgen/120566" ref="tree=MeSH" title="MedGen record for Anterior open-bite malocclusion">Anterior open-bite malocclusion</a></span></li><li><span class="TLline"><a href="/medgen/346491" ref="tree=MeSH" title="MedGen record for Frontal open bite">Frontal open bite</a></span></li></ul></li></ul></li><li><span class="TLline"><a href="/medgen/3800" ref="tree=MeSH" title="MedGen record for Diastema">Diastema</a></span></li><li><span class="TLline"><a href="/medgen/539656" ref="tree=MeSH" title="MedGen record for Increased overbite">Increased overbite</a></span></li><li><span class="TLline"><a href="/medgen/375760" ref="tree=MeSH" title="MedGen record for Irregularly spaced teeth">Irregularly spaced teeth</a></span></li><li><span class="TLline"><a href="/medgen/869137" ref="tree=MeSH" title="MedGen record for Misalignment of incisors">Misalignment of incisors</a></span><ul><li><span class="TLline"><a href="/medgen/868019" ref="tree=MeSH" title="MedGen record for Abnormal spaced incisors">Abnormal spaced incisors</a></span><ul><li><span class="TLline"><a href="/medgen/585638" ref="tree=MeSH" title="MedGen record for Widely-spaced incisors">Widely-spaced incisors</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/867243" ref="tree=MeSH" title="MedGen record for Crowded maxillary incisors">Crowded maxillary incisors</a></span></li><li><span class="TLline"><a href="/medgen/927612" ref="tree=MeSH" title="MedGen record for Forward slanting upper incisors">Forward slanting upper incisors</a></span></li><li><span class="TLline"><a href="/medgen/870612" ref="tree=MeSH" title="MedGen record for Rotated maxillary central incisors">Rotated maxillary central incisors</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/109287" ref="tree=MeSH" title="MedGen record for Overjet">Overjet</a></span></li><li><span class="TLline"><a href="/medgen/337093" ref="tree=MeSH" title="MedGen record for Widely spaced teeth">Widely spaced teeth</a></span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
</div>
<div class="portlet mgSection" id="ID_112">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Conditions_with_this_feature">Conditions with this feature</h1><a sid="112" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln clinfeat">
<div class="divPopper rprt" id="rdis_6292"><div><strong>Melnick-Needles syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>6292</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0025237</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">The X-linked otopalatodigital (X-OPD) spectrum disorders, characterized primarily by skeletal dysplasia, include the following: Otopalatodigital syndrome type 1 (OPD1). Otopalatodigital syndrome type 2 (OPD2). Frontometaphyseal dysplasia type 1 (FMD1). Melnick-Needles syndrome (MNS). Terminal osseous dysplasia with pigmentary skin defects (TODPD). In OPD1, most manifestations are present at birth; females can present with severity similar to affected males, although some have only mild manifestations. In OPD2, females are less severely affected than related affected males. Most males with OPD2 die during the first year of life, usually from thoracic hypoplasia resulting in pulmonary insufficiency. Males who live beyond the first year of life are usually developmentally delayed and require respiratory support and assistance with feeding. In FMD1, females are less severely affected than related affected males. Males do not experience a progressive skeletal dysplasia but may have joint contractures and hand and foot malformations. Progressive scoliosis is observed in both affected males and females. In MNS, wide phenotypic variability is observed; some individuals are diagnosed in adulthood, while others require respiratory support and have reduced longevity. MNS in males results in perinatal lethality in all recorded cases. TODPD, seen only in females, is characterized by a skeletal dysplasia that is most prominent in the digits, pigmentary defects of the skin, and recurrent digital fibromata.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/6292">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_120529"><div><strong>Metaphyseal chondrodysplasia, Jansen type</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>120529</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0265295</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">The Murk Jansen type of metaphyseal chondrodysplasia is characterized by severe short stature, short bowed limbs, clinodactyly, prominent upper face, and small mandible. Hypercalcemia and hypophosphatemia occur despite the lack of parathyroid abnormalities (summary by Cohen, 2002).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/120529">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_96604"><div><strong>Deletion of short arm of chromosome 18</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>96604</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0432442</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">The main clinical manifestations of chromosome 18p deletion syndrome are impaired intellectual development, growth retardation, craniofacial dysmorphism including round face, dysplastic ears, wide mouth and dental anomalies, and abnormalities of the limbs, genitalia, brain, eyes, and heart. The round face characteristic in the neonatal period and childhood may change to a long face with linear growth of the height of the face (summary by Tsukahara et al., 2001).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/96604">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_162898"><div><strong>Microphthalmia, syndromic 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>162898</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0796016</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
<div class="spaceAbove">Microphthalmia-ankyloblepharon-intellectual disability syndrome is characterized by microphthalmia, ankyloblepharon and intellectual deficit. It has been described in seven male patients from two generations of a Northern Ireland family. The causative gene is localized to the Xq27-q28 region. The syndrome is transmitted as an X-linked recessive trait.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/162898">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_341263"><div><strong>Van Bogaert-Hozay syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>341263</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C1848598</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/341263">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_340297"><div><strong>Ectodermal dysplasia-blindness syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>340297</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C1849332</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">A rare multiple congenital anomalies/dysmorphic syndrome characterized by intellectual disability, severe visual impairment due to ocular malformations (microphthalmos and microcornea with sclerocornea), short stature, hypotrichosis, dental anomalies, and dysmorphic facial features (such as a narrow nasal bridge with marked distal flaring and low-set, protruding ears). There have been no further descriptions in the literature since 1992.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/340297">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_338945"><div><strong>Craniometaphyseal dysplasia, autosomal dominant</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>338945</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information."><span class="highlight" style="background-color:">C1852502</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Autosomal dominant craniometaphyseal dysplasia (designated AD-CMD in this review) is characterized by progressive diffuse hyperostosis of cranial bones evident clinically as wide nasal bridge, paranasal bossing, widely spaced eyes with an increase in bizygomatic width, and prominent mandible. Development of dentition may be delayed and teeth may fail to erupt as a result of hyperostosis and sclerosis of alveolar bone. Progressive thickening of craniofacial bones continues throughout life, often resulting in narrowing of the cranial foramina, including the foramen magnum. If untreated, compression of cranial nerves can lead to disabling conditions such as facial palsy, blindness, or deafness (conductive and/or sensorineural hearing loss). In individuals with typical uncomplicated AD-CMD life expectancy is normal; in those with severe AD-CMD life expectancy can be reduced as a result of compression of the foramen magnum.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/338945">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_341067"><div><strong>Mowat-Wilson syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>341067</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C1856113</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Mowat-Wilson syndrome (MWS) is characterized by distinctive facial features (widely spaced eyes, broad eyebrows with a medial flare, low-hanging columella, prominent or pointed chin, open-mouth expression, and uplifted earlobes with a central depression), congenital heart defects with predilection for abnormalities of the pulmonary arteries and/or valves, Hirschsprung disease or chronic constipation, genitourinary anomalies (particularly hypospadias in males), and hypogenesis or agenesis of the corpus callosum. Most affected individuals have moderate-to-severe intellectual disability. Speech is typically limited to a few words or is absent, with relative preservation of receptive language skills. Growth restriction with microcephaly and seizure disorder are also common. Most affected people have a happy demeanor and a wide-based gait that can sometimes be confused with Angelman syndrome.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/341067">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_358388"><div><strong>Weill-Marchesani syndrome 2, dominant</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>358388</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C1869115</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Weill-Marchesani syndrome (WMS) is a connective tissue disorder characterized by abnormalities of the lens of the eye, short stature, brachydactyly, joint stiffness, and cardiovascular defects. The ocular problems, typically recognized in childhood, include microspherophakia (small spherical lens), myopia secondary to the abnormal shape of the lens, ectopia lentis (abnormal position of the lens), and glaucoma, which can lead to blindness. Height of adult males is 142-169 cm; height of adult females is 130-157 cm. Autosomal recessive WMS cannot be distinguished from autosomal dominant WMS by clinical findings alone.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/358388">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_442888"><div><strong>Malposition of teeth with or without hypodontia/oligodontia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>442888</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C2752157</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
<div class="spaceAbove">Malpositioning, or ectopic placement, of teeth is believed to result from a disturbance of the tooth developmental structure. Various forms of the disorder tend to be associated with one another and with hypodontia. It is important to recognize any associations of tooth anomalies as early diagnosis of developmental disturbance in a single tooth may reveal a potential risk of future position or eruption disturbances of other teeth and thus allow early intervention (Bjerklin et al., 1992).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/442888">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_501159"><div><strong>Gigantiform cementoma</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>501159</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C3495361</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div></div>
<div class="spaceAbove">Familial gigantiform cementoma (FGC) is a rare autosomal dominant tumor that is benign but can result in disfigurement of the facial skeleton. Onset of symptoms usually occurs in adolescence, with rapid growth causing expansion of the maxilla and mandible, resulting in significant facial deformity and malocclusion. Radiologic examination defines 3 stages of the lesions: osteolytic, with well-defined radiolucent areas; cementoblastic, in which cementum is formed within the fibrous tissue, represented by radiopacities within the radiolucent zones; and mature, in which the fibrous tissue is almost completely replaced by cementum, represented by a large radioopaque area surrounded by a radiolucent space separating the tumor from normal bone. Histologic examination shows confluent sclerotic avascular cementum, with distinct areas of lamellar bone in some cases. Examination under polarized light reveals a varied birefringent pattern typical of cementum (summary by Finical et al., 1999). Affected individuals may develop osteopenia and sustain long bone fractures after minor trauma (Moshref et al., 2008; Wang et al., 2015).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/501159">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_895448"><div><strong>Short stature, microcephaly, and endocrine dysfunction</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>895448</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C4225288</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">In patients with SSMED, short stature and microcephaly are apparent at birth, and there is progressive postnatal growth failure. Endocrine dysfunction, including hypergonadotropic hypogonadism, multinodular goiter, and diabetes mellitus, is present in affected adults. Progressive ataxia has been reported in some patients, with onset ranging from the second to fifth decade of life. In addition, a few patients have developed tumors, suggesting that there may be a predisposition to tumorigenesis. In contrast to syndromes involving defects in other components of the nonhomologous end-joining (NHEJ) complex (see, e.g., 606593), no clinically overt immunodeficiency has been observed in SSMED, although laboratory analysis has revealed lymphopenia or borderline leukopenia in some patients (Murray et al., 2015; Bee et al., 2015; de Bruin et al., 2015; Guo et al., 2015).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/895448">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1371952"><div><strong>Specific granule deficiency 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1371952</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C4479548</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Specific granule deficiency-2 (SGD2) is an autosomal recessive immunologic disorder characterized by recurrent infections due to defective neutrophil development. Bone marrow findings include paucity of neutrophil granulocytes, absence of granule proteins in neutrophils, abnormal megakaryocytes, and features of progressive myelofibrosis with blasts. The disorder is apparent from infancy, and patients may die in early childhood unless they undergo hematopoietic stem cell transplantation. Most patients have additional findings, including delayed development, mild dysmorphic features, tooth abnormalities, and distal skeletal defects (Witzel et al., 2017).&#13; For a discussion of genetic heterogeneity of SGD, see SGD1 (245480).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1371952">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1642815"><div><strong>Sclerosteosis 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1642815</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C4551483</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">SOST-related sclerosing bone dysplasias include SOST-related sclerosteosis and SOST-related endosteal hyperostosis, van Buchem type (van Buchem disease), both disorders of progressive bone overgrowth due to increased bone formation. The major clinical features of SOST-related sclerosteosis are progressive skeletal overgrowth, most pronounced in the skull and mandible, and variable syndactyly, usually of the second (index) and third (middle) fingers. Affected individuals appear normal at birth except for syndactyly. Facial distortion due to frontal bossing and mandibular overgrowth is seen in nearly all individuals and becomes apparent in early childhood with progression into adulthood. Hyperostosis of the skull results in narrowing of the foramina, causing entrapment of the seventh cranial nerve (leading to facial palsy) with other, less common nerve entrapment syndromes including visual loss (2nd cranial nerve), neuralgia or anosmia (5th cranial nerve), and sensorineural hearing loss (8th cranial nerve). In SOST-related sclerosteosis, hyperostosis of the calvarium reduces intracranial volume, increasing the risk for potentially lethal elevation of intracranial pressure. Survival of individuals with SOST-related sclerosteosis into old age is unusual but not unprecedented. The manifestations of van Buchem disease are generally milder than SOST-related sclerosteosis. Stature is typically normal, cranial nerve entrapment of the seventh and eighth cranial nerves are common, and increased intracranial pressure is rare, seen only in severely affected individuals. Individuals with van Buchem disease do not have syndactyly or other digit deformities. Life span appears not to be altered.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1642815">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1637058"><div><strong>Weill-Marchesani syndrome 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1637058</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C4552002</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Weill-Marchesani syndrome (WMS) is a connective tissue disorder characterized by abnormalities of the lens of the eye, short stature, brachydactyly, joint stiffness, and cardiovascular defects. The ocular problems, typically recognized in childhood, include microspherophakia (small spherical lens), myopia secondary to the abnormal shape of the lens, ectopia lentis (abnormal position of the lens), and glaucoma, which can lead to blindness. Height of adult males is 142-169 cm; height of adult females is 130-157 cm. Autosomal recessive WMS cannot be distinguished from autosomal dominant WMS by clinical findings alone.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1637058">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1632001"><div><strong>Ehlers-Danlos syndrome, classic-like, 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1632001</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C4693870</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Ehlers-Danlos syndrome classic-like-2 (EDSCLL2) is characterized by severe joint and skin laxity, osteoporosis involving the hips and spine, osteoarthritis, soft redundant skin that can be acrogeria-like, delayed wound healing with abnormal atrophic scarring, and shoulder, hip, knee, and ankle dislocations. Variable features include gastrointestinal and genitourinary manifestations, such as bowel rupture, gut dysmotility, cryptorchidism, and hernias; vascular complications, such as mitral valve prolapse and aortic root dilation; and skeletal anomalies (Blackburn et al., 2018).&#13; For a discussion of genetic heterogeneity of classic-like Ehlers-Danlos syndrome, see 606408.&#13; For a discussion of the classification of EDS, see 130000.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1632001">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1684818"><div><strong>Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1684818</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C5231423</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities (NEDHIB) is characterized by early-onset hypotonia, delayed walking, poor speech, and impaired intellectual development. Additional features may include feeding difficulties, dysmorphic features, and visual defects. Brain imaging tends to show delayed myelination, thin corpus callosum, and/or enlarged ventricles. The severity of the disorder is highly variable; initial evidence suggests that the severity may depend on the type of mutation (summary by Haijes et al., 2019).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1684818">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1684881"><div><strong>Intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomalies</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1684881</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C5231426</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomalies (IDNADFS) is characterized by mildly impaired global development, speech delay with nasal speech, and dysmorphic facial features, including high forehead, midface hypoplasia, micrognathia or high-arched palate, hypo/hypertelorism, upslanting palpebral fissures, and thin upper lip. Some patients may have skeletal anomalies, such as brachydactyly, 2-3 toe syndactyly, and flat feet (summary by Alesi et al., 2019 and Uehara et al., 2019).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1684881">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1684686"><div><strong>Catifa syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1684686</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C5231492</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">CATIFA syndrome is characterized by global developmental delay and impaired intellectual development ranging from mild to severe, with most patients exhibiting attention-deficit hyperactivity disorder (ADHD). Patients show an elongated face with long philtrum and small ears. Ocular anomalies include congenital cataracts, strabismus, and amblyopia, which may be associated with reduced vision; other anomalies include cleft lip and/or palate and misaligned teeth with extensive caries (Unlu et al., 2020).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1684686">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1778114"><div><strong>Martsolf syndrome 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1778114</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C5542298</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">RAB18 deficiency is the molecular deficit underlying both Warburg micro syndrome (characterized by eye, nervous system, and endocrine abnormalities) and Martsolf syndrome (characterized by similar – but milder – findings). To date Warburg micro syndrome comprises &gt;96% of reported individuals with genetically defined RAB18 deficiency. The hallmark ophthalmologic findings are bilateral congenital cataracts, usually accompanied by microphthalmia, microcornea (diameter &lt;10), and small atonic pupils. Poor vision despite early cataract surgery likely results from progressive optic atrophy and cortical visual impairment. Individuals with Warburg micro syndrome have severe to profound intellectual disability (ID); those with Martsolf syndrome have mild to moderate ID. Some individuals with RAB18 deficiency also have epilepsy. In Warburg micro syndrome, a progressive ascending spastic paraplegia typically begins with spastic diplegia and contractures during the first year, followed by upper-limb involvement leading to spastic quadriplegia after about age five years, often eventually causing breathing difficulties. In Martsolf syndrome infantile hypotonia is followed primarily by slowly progressive lower-limb spasticity. Hypogonadism – when present – manifests in both syndromes, in males as micropenis and/or cryptorchidism and in females as hypoplastic labia minora, clitoral hypoplasia, and small introitus.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1778114">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1794215"><div><strong>Cerebellar ataxia, brain abnormalities, and cardiac conduction defects</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1794215</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C5562005</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Cerebellar ataxia, brain abnormalities, and cardiac conduction defects (CABAC) is an autosomal recessive primarily neurologic disorder with variable manifestations. Common features included infantile-onset hypotonia, poor motor development, poor feeding and overall growth, and ataxic gait due to cerebellar ataxia. Other features include dysarthria, nystagmus, variable ocular anomalies, spasticity, hyperreflexia, and nonspecific dysmorphic features. Most, but not all, patients have global developmental delay with impaired intellectual development and speech delay. Brain imaging shows cerebellar hypoplasia, often with brainstem hypoplasia, enlarged ventricles, delayed myelination, and thin corpus callosum. A significant number of patients develop cardiac conduction defects in childhood or adolescence, often requiring pacemaker placement (summary by Slavotinek et al., 2020).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1794215">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1794242"><div><strong>Hengel-Maroofian-Schols syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1794242</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C5562032</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Hengel-Maroofian-Schols syndrome (HEMARS) is an autosomal recessive neurodevelopmental disorder characterized by severe global developmental delay apparent from infancy or early childhood. Affected individuals have delayed walking or inability to walk, impaired intellectual development with poor or absent speech, pyramidal signs manifest as lower limb spasticity, poor overall growth often with short stature and microcephaly, and dysmorphic facial features. Some patients develop seizures. Brain imaging shows thinning of the posterior part of the corpus callosum, delayed myelination, and cerebral and cerebellar atrophy (Hengel et al., 2021).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1794242">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1854654"><div><strong>Neurodevelopmental disorder with hypotonia, brain anomalies, distinctive facies, and absent language</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1854654</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C5935628</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">ReNU syndrome (RENU), also known as neurodevelopmental disorder with hypotonia, brain anomalies, distinctive facies, and absent language (NEDHAFA), is characterized by hypotonia, global developmental delay, severely impaired intellectual development with poor or absent speech, delayed walking or inability to walk, feeding difficulties with poor overall growth, seizures (in most), dysmorphic facial features, and brain anomalies, including ventriculomegaly, thin corpus callosum, and progressive white matter loss (Greene et al., 2024; Schot et al., 2024; Chen et al., 2024).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1854654">Condition Record</a></div></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1684686" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Catifa syndrome</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1794215" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cerebellar ataxia, brain abnormalities, and cardiac conduction defects</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_338945" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Craniometaphyseal dysplasia, autosomal dominant</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_96604" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Deletion of short arm of chromosome 18</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_340297" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ectodermal dysplasia-blindness syndrome</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (23)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1632001" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ehlers-Danlos syndrome, classic-like, 2</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_501159" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Gigantiform cementoma</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1794242" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hengel-Maroofian-Schols syndrome</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1684881" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomalies</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_442888" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Malposition of teeth with or without hypodontia/oligodontia</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1778114" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Martsolf syndrome 1</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_6292" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Melnick-Needles syndrome</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_120529" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Metaphyseal chondrodysplasia, Jansen type</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_162898" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Microphthalmia, syndromic 1</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_341067" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mowat-Wilson syndrome</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1684818" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1854654" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neurodevelopmental disorder with hypotonia, brain anomalies, distinctive facies, and absent language</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1642815" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Sclerosteosis 1</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_895448" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Short stature, microcephaly, and endocrine dysfunction</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1371952" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Specific granule deficiency 2</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_341263" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Van Bogaert-Hozay syndrome</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1637058" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Weill-Marchesani syndrome 1</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_358388" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Weill-Marchesani syndrome 2, dominant</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/30887963">Noninvasive interdisciplinary treatment of a dischromic partially worn dentition.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Imbelloni A,
Iafrate R,
Luzi C</span><br />
<span class="medgenPMjournal">Quintessence Int</span>
2019;50(4):294-304.
doi: 10.3290/j.qi.a42171.
<span class="bold">PMID: </span><a href="/pubmed/30887963" target="_blank">30887963</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22tooth%20malposition%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 (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/37565945">Comparison of pleasant and unpleasant smile characteristics in the perception of the laypeople in an Iranian population.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Motamedian SR,
Najary S,
Nikakhtar H,
Rezvani M,
Safavi SM</span><br />
<span class="medgenPMjournal">Am J Orthod Dentofacial Orthop</span>
2023 Dec;164(6):766-773.
Epub 2023 Aug 9
doi: 10.1016/j.ajodo.2023.04.022.
<span class="bold">PMID: </span><a href="/pubmed/37565945" target="_blank">37565945</a></div>
<div class="nl"><a target="_blank" href="/pubmed/31613938">Connective Tissue Grafts with Nonincised Papillae Surgical Approach for Periodontal Reconstruction in Noncontained Defects.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Moreno Rodríguez JA,
Ortiz Ruiz AJ,
Zamora GP,
Pecci-Lloret M,
Caffesse RG</span><br />
<span class="medgenPMjournal">Int J Periodontics Restorative Dent</span>
2019 Nov/Dec;39(6):781-787.
doi: 10.11607/prd.4282.
<span class="bold">PMID: </span><a href="/pubmed/31613938" target="_blank">31613938</a></div>
<div class="nl"><a target="_blank" href="/pubmed/28490347">GH-secreting pituitary macroadenoma (acromegaly) associated with progressive dental malocclusion and refractory CPAP treatment.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Miranda-Rius J,
Brunet-LLobet L,
Lahor-Soler E,
de Dios-Miranda D,
Giménez-Rubio JA</span><br />
<span class="medgenPMjournal">Head Face Med</span>
2017 May 10;13(1):7.
doi: 10.1186/s13005-017-0140-6.
<span class="bold">PMID: </span><a href="/pubmed/28490347" target="_blank">28490347</a><a href="/pmc/articles/PMC5424328" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/21740171">Dental anomalies in children born with clefts: a case-control study.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">de Lima Pedro R,
Faria MD,
de Castro Costa M,
Vieira AR</span><br />
<span class="medgenPMjournal">Cleft Palate Craniofac J</span>
2012 Nov;49(6):e64-8.
Epub 2011 Jul 8
doi: 10.1597/10-067.
<span class="bold">PMID: </span><a href="/pubmed/21740171" target="_blank">21740171</a></div>
<div class="nl"><a target="_blank" href="/pubmed/8832476">Prognosis versus actual outcome. II. The effectiveness of clinical parameters in developing an accurate prognosis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">McGuire MK,
Nunn ME</span><br />
<span class="medgenPMjournal">J Periodontol</span>
1996 Jul;67(7):658-65.
doi: 10.1902/jop.1996.67.7.658.
<span class="bold">PMID: </span><a href="/pubmed/8832476" target="_blank">8832476</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Tooth%20malposition%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 (8)</a></div><h3 class="subhead">Diagnosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/30365614">Root perforations: a review of diagnosis, prognosis and materials.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Estrela C,
Decurcio DA,
Rossi-Fedele G,
Silva JA,
Guedes OA,
Borges ÁH</span><br />
<span class="medgenPMjournal">Braz Oral Res</span>
2018 Oct 18;32(suppl 1):e73.
doi: 10.1590/1807-3107bor-2018.vol32.0073.
<span class="bold">PMID: </span><a href="/pubmed/30365614" target="_blank">30365614</a></div>
<div class="nl"><a target="_blank" href="/pubmed/25913371">Conservative orthodontic-prosthodontic approach for excessive gingival display: A clinical report.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">del Castillo R,
Hernández AM,
Ercoli C</span><br />
<span class="medgenPMjournal">J Prosthet Dent</span>
2015 Jul;114(1):3-8.
Epub 2015 Apr 22
doi: 10.1016/j.prosdent.2014.12.024.
<span class="bold">PMID: </span><a href="/pubmed/25913371" target="_blank">25913371</a></div>
<div class="nl"><a target="_blank" href="/pubmed/21645241">Management of a permanent tooth after trauma to deciduous predecessor: an evaluation by cone-beam computed tomography.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Gurgel CV,
Lourenço Neto N,
Kobayashi TY,
Garib DG,
da Silva SM,
Machado MA,
Oliveira TM</span><br />
<span class="medgenPMjournal">Dent Traumatol</span>
2011 Oct;27(5):408-12.
Epub 2011 Jun 7
doi: 10.1111/j.1600-9657.2011.00991.x.
<span class="bold">PMID: </span><a href="/pubmed/21645241" target="_blank">21645241</a></div>
<div class="nl"><a target="_blank" href="/pubmed/9743649">Use of selectively colored stereolithography for diagnosis of impacted supernumerary teeth for a patient with cleidocranial dysplasia.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Sato K,
Sugawara J,
Mitani H,
Kawamura H</span><br />
<span class="medgenPMjournal">Int J Adult Orthodon Orthognath Surg</span>
1998;13(2):163-7.
<span class="bold">PMID: </span><a href="/pubmed/9743649" target="_blank">9743649</a></div>
<div class="nl"><a target="_blank" href="/pubmed/8832476">Prognosis versus actual outcome. II. The effectiveness of clinical parameters in developing an accurate prognosis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">McGuire MK,
Nunn ME</span><br />
<span class="medgenPMjournal">J Periodontol</span>
1996 Jul;67(7):658-65.
doi: 10.1902/jop.1996.67.7.658.
<span class="bold">PMID: </span><a href="/pubmed/8832476" target="_blank">8832476</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Tooth%20malposition%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 (8)</a></div><h3 class="subhead">Therapy</h3>
<div class="nl"><a target="_blank" href="/pubmed/33030085">Association between Dental Anomalies and Orofacial Clefts: A Meta-analysis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Marzouk T,
Alves IL,
Wong CL,
DeLucia L,
McKinney CM,
Pendleton C,
Howe BJ,
Marazita ML,
Peter TK,
Kopycka-Kedzierawski DT,
Morrison CS,
Malmstrom H,
Wang H,
Shope ET</span><br />
<span class="medgenPMjournal">JDR Clin Trans Res</span>
2021 Oct;6(4):368-381.
Epub 2020 Oct 8
doi: 10.1177/2380084420964795.
<span class="bold">PMID: </span><a href="/pubmed/33030085" target="_blank">33030085</a><a href="/pmc/articles/PMC8447105" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/30365614">Root perforations: a review of diagnosis, prognosis and materials.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Estrela C,
Decurcio DA,
Rossi-Fedele G,
Silva JA,
Guedes OA,
Borges ÁH</span><br />
<span class="medgenPMjournal">Braz Oral Res</span>
2018 Oct 18;32(suppl 1):e73.
doi: 10.1590/1807-3107bor-2018.vol32.0073.
<span class="bold">PMID: </span><a href="/pubmed/30365614" target="_blank">30365614</a></div>
<div class="nl"><a target="_blank" href="/pubmed/27075370">Effect of rapid palatal expansion in early tratment and spontaneous correction of maxillary canine-first premolar transposition.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Maspero C,
Giannini L,
Galbiati G,
Feresini M,
Farronato G</span><br />
<span class="medgenPMjournal">Minerva Stomatol</span>
2016 Jun;65(3):134-43.
<span class="bold">PMID: </span><a href="/pubmed/27075370" target="_blank">27075370</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Tooth%20malposition%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/33151183">Clinical Remarks on the Significance of Tooth Malposition and Papillae Dimension on the Prediction of Root Coverage.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Zucchelli G,
Tavelli L,
Barootchi S,
Stefanini M,
Wang HL,
Cortellini P</span><br />
<span class="medgenPMjournal">Int J Periodontics Restorative Dent</span>
2020 Nov/Dec;40(6):795-803.
doi: 10.11607/prd.4929.
<span class="bold">PMID: </span><a href="/pubmed/33151183" target="_blank">33151183</a></div>
<div class="nl"><a target="_blank" href="/pubmed/31613938">Connective Tissue Grafts with Nonincised Papillae Surgical Approach for Periodontal Reconstruction in Noncontained Defects.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Moreno Rodríguez JA,
Ortiz Ruiz AJ,
Zamora GP,
Pecci-Lloret M,
Caffesse RG</span><br />
<span class="medgenPMjournal">Int J Periodontics Restorative Dent</span>
2019 Nov/Dec;39(6):781-787.
doi: 10.11607/prd.4282.
<span class="bold">PMID: </span><a href="/pubmed/31613938" target="_blank">31613938</a></div>
<div class="nl"><a target="_blank" href="/pubmed/30365614">Root perforations: a review of diagnosis, prognosis and materials.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Estrela C,
Decurcio DA,
Rossi-Fedele G,
Silva JA,
Guedes OA,
Borges ÁH</span><br />
<span class="medgenPMjournal">Braz Oral Res</span>
2018 Oct 18;32(suppl 1):e73.
doi: 10.1590/1807-3107bor-2018.vol32.0073.
<span class="bold">PMID: </span><a href="/pubmed/30365614" target="_blank">30365614</a></div>
<div class="nl"><a target="_blank" href="/pubmed/28490347">GH-secreting pituitary macroadenoma (acromegaly) associated with progressive dental malocclusion and refractory CPAP treatment.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Miranda-Rius J,
Brunet-LLobet L,
Lahor-Soler E,
de Dios-Miranda D,
Giménez-Rubio JA</span><br />
<span class="medgenPMjournal">Head Face Med</span>
2017 May 10;13(1):7.
doi: 10.1186/s13005-017-0140-6.
<span class="bold">PMID: </span><a href="/pubmed/28490347" target="_blank">28490347</a><a href="/pmc/articles/PMC5424328" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/8832476">Prognosis versus actual outcome. II. The effectiveness of clinical parameters in developing an accurate prognosis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">McGuire MK,
Nunn ME</span><br />
<span class="medgenPMjournal">J Periodontol</span>
1996 Jul;67(7):658-65.
doi: 10.1902/jop.1996.67.7.658.
<span class="bold">PMID: </span><a href="/pubmed/8832476" target="_blank">8832476</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Tooth%20malposition%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 (6)</a></div><h3 class="subhead">Clinical prediction guides</h3>
<div class="nl"><a target="_blank" href="/pubmed/37565945">Comparison of pleasant and unpleasant smile characteristics in the perception of the laypeople in an Iranian population.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Motamedian SR,
Najary S,
Nikakhtar H,
Rezvani M,
Safavi SM</span><br />
<span class="medgenPMjournal">Am J Orthod Dentofacial Orthop</span>
2023 Dec;164(6):766-773.
Epub 2023 Aug 9
doi: 10.1016/j.ajodo.2023.04.022.
<span class="bold">PMID: </span><a href="/pubmed/37565945" target="_blank">37565945</a></div>
<div class="nl"><a target="_blank" href="/pubmed/33030085">Association between Dental Anomalies and Orofacial Clefts: A Meta-analysis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Marzouk T,
Alves IL,
Wong CL,
DeLucia L,
McKinney CM,
Pendleton C,
Howe BJ,
Marazita ML,
Peter TK,
Kopycka-Kedzierawski DT,
Morrison CS,
Malmstrom H,
Wang H,
Shope ET</span><br />
<span class="medgenPMjournal">JDR Clin Trans Res</span>
2021 Oct;6(4):368-381.
Epub 2020 Oct 8
doi: 10.1177/2380084420964795.
<span class="bold">PMID: </span><a href="/pubmed/33030085" target="_blank">33030085</a><a href="/pmc/articles/PMC8447105" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/33151183">Clinical Remarks on the Significance of Tooth Malposition and Papillae Dimension on the Prediction of Root Coverage.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Zucchelli G,
Tavelli L,
Barootchi S,
Stefanini M,
Wang HL,
Cortellini P</span><br />
<span class="medgenPMjournal">Int J Periodontics Restorative Dent</span>
2020 Nov/Dec;40(6):795-803.
doi: 10.11607/prd.4929.
<span class="bold">PMID: </span><a href="/pubmed/33151183" target="_blank">33151183</a></div>
<div class="nl"><a target="_blank" href="/pubmed/30365614">Root perforations: a review of diagnosis, prognosis and materials.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Estrela C,
Decurcio DA,
Rossi-Fedele G,
Silva JA,
Guedes OA,
Borges ÁH</span><br />
<span class="medgenPMjournal">Braz Oral Res</span>
2018 Oct 18;32(suppl 1):e73.
doi: 10.1590/1807-3107bor-2018.vol32.0073.
<span class="bold">PMID: </span><a href="/pubmed/30365614" target="_blank">30365614</a></div>
<div class="nl"><a target="_blank" href="/pubmed/8832476">Prognosis versus actual outcome. II. The effectiveness of clinical parameters in developing an accurate prognosis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">McGuire MK,
Nunn ME</span><br />
<span class="medgenPMjournal">J Periodontol</span>
1996 Jul;67(7):658-65.
doi: 10.1902/jop.1996.67.7.658.
<span class="bold">PMID: </span><a href="/pubmed/8832476" target="_blank">8832476</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Tooth%20malposition%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 (9)</a></div></div>
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Howe BJ,
Marazita ML,
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Kopycka-Kedzierawski DT,
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Shope ET</span><br />
<span class="medgenPMjournal">JDR Clin Trans Res</span>
2021 Oct;6(4):368-381.
Epub 2020 Oct 8
doi: 10.1177/2380084420964795.
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