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<meta name="keywords" content="C1860819, congenital abnormality, finding, metopic craniosynostosis, metopic suture craniosynostosis, metopic synostoses, metopic synostosis, synostoses, metopic, synostosis, metopic, 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="Premature fusion of the metopic suture." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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UID=395990
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ConceptID=C1860819
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Metopic synostosis</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>395990</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:">C1860819</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality; Finding</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>Metopic Synostoses; Metopic Synostosis; Synostoses, Metopic; Synostosis, Metopic</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>HPO:</td>
|
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<td><a target="_blank" title="Human Phenotype Ontology" href="https://hpo.jax.org/app/browse/term/HP:0011330">HP:0011330</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 mgSection" id="ID_100">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">Premature fusion of the metopic suture. [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>
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<div class="portlet mgSection" id="ID_118">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
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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="TLline">Metopic synostosis</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/868760" ref="tree=MeSH" title="MedGen record for Abnormal skeletal morphology">Abnormal skeletal morphology</a></span><ul><li><span class="TLline"><a href="/medgen/892434" ref="tree=MeSH" title="MedGen record for Abnormal axial skeleton morphology">Abnormal axial skeleton morphology</a></span><ul><li><span class="TLline"><a href="/medgen/488801" ref="tree=MeSH" title="MedGen record for Abnormal skull morphology">Abnormal skull morphology</a></span><ul><li><span class="TLline"><a href="/medgen/871380" ref="tree=MeSH" title="MedGen record for Abnormal cranial suture/fontanelle morphology">Abnormal cranial suture/fontanelle morphology</a></span><ul><li><span class="TLline"><a href="/medgen/868996" ref="tree=MeSH" title="MedGen record for Abnormality of cranial sutures">Abnormality of cranial sutures</a></span><ul><li><span class="TLline"><a href="/medgen/870726" ref="tree=MeSH" title="MedGen record for Abnormality of the metopic suture">Abnormality of the metopic suture</a></span><ul><li><span class="matched_ds">Metopic synostosis</span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_112">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Conditions_with_this_feature">Conditions with this feature</h1><a sid="112" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln clinfeat">
|
||
<div class="divPopper rprt" id="rdis_120531"><div><strong>Greig cephalopolysyndactyly syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>120531</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.">C0265306</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Typical Greig cephalopolysyndactyly syndrome (GCPS) is characterized by macrocephaly, widely spaced eyes associated with increased interpupillary distance, preaxial polydactyly with or without postaxial polydactyly, and cutaneous syndactyly. Developmental delay, intellectual disability, or seizures appear to be uncommon manifestations (~<10%) of GCPS and may be more common in individuals with large (>300-kb) deletions that encompass GLI3. Approximately 20% of individuals with GCPS have hypoplasia or agenesis of the corpus callosum.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/120531">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_98473"><div><strong>Trigonocephaly 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>98473</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.">C0432122</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Individuals with trigonocephaly have a keel-shaped forehead with wide biparietal diameter, resulting in a triangular shape of the head. Trigonocephaly results from premature closure of the metopic sutures and usually occurs sporadically (summary by Frydman et al., 1984). Genetic Heterogeneity of Isolated Trigonocephaly Also see trigonocephaly-2 (TRIGNO2; 614485), caused by mutation in the FREM1 gene (608944) on chromosome 9p22.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/98473">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_162917"><div><strong>Simpson-Golabi-Behmel syndrome type 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>162917</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.">C0796154</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Simpson-Golabi-Behmel syndrome type 1 (SGBS1) is characterized by pre- and postnatal macrosomia; distinctive craniofacial features (including macrocephaly, coarse facial features, macrostomia, macroglossia, and palate abnormalities); and, commonly, mild-to-severe intellectual disability with or without structural brain anomalies. Other variable findings include supernumerary nipples, diastasis recti / umbilical hernia, congenital heart defects, diaphragmatic hernia, genitourinary defects, and gastrointestinal issues. Skeletal anomalies can include vertebral fusion, scoliosis, rib anomalies, and congenital hip dislocation. Hand anomalies can include large hands and postaxial polydactyly. Affected individuals are at increased risk for embryonal tumors including Wilms tumor, hepatoblastoma, adrenal neuroblastoma, gonadoblastoma, hepatocellular carcinoma, and medulloblastoma.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/162917">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_322167"><div><strong>Lambdoidal craniosynostosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>322167</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.">C1833340</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Craniosynostosis (CRS) is a primary abnormality of skull growth involving premature fusion of the cranial sutures such that the growth velocity of the skull often cannot match that of the developing brain. This produces skull deformity and, in some cases, raises intracranial pressure, which must be treated promptly to avoid permanent neurodevelopmental disability (summary by Fitzpatrick, 2013). Craniosynostosis-4 (CRS4) includes lambdoid, sagittal, metopic, coronal, and multisuture forms. For a discussion of genetic heterogeneity of craniosynostosis, see CRS1 (123100).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/322167">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_334114"><div><strong>Joubert syndrome 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>334114</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.">C1842577</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Classic Joubert syndrome (JS) is characterized by three primary findings: A distinctive cerebellar and brain stem malformation called the molar tooth sign (MTS). Hypotonia. Developmental delays. Often these findings are accompanied by episodic tachypnea or apnea and/or atypical eye movements. In general, the breathing abnormalities improve with age, truncal ataxia develops over time, and acquisition of gross motor milestones is delayed. Cognitive abilities are variable, ranging from severe intellectual disability to normal. Additional findings can include retinal dystrophy, renal disease, ocular colobomas, occipital encephalocele, hepatic fibrosis, polydactyly, oral hamartomas, and endocrine abnormalities. Both intra- and interfamilial variation are seen.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/334114">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_336854"><div><strong>FG syndrome 5</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>336854</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.">C1845119</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The physical features of FG syndrome include weak muscle tone (hypotonia), broad thumbs, and wide first (big) toes. Abnormalities of the tissue connecting the left and right halves of the brain (the corpus callosum) are also common. Most affected individuals have constipation, and many have abnormalities of the anus such as an obstruction of the anal opening (imperforate anus). People with FG syndrome also tend to have a distinctive facial appearance including small, underdeveloped ears; a tall, prominent forehead; and outside corners of the eyes that point downward (down-slanting palpebral fissures).\n\nAdditional features seen in some people with FG syndrome include widely set eyes (hypertelorism), an upswept frontal hairline, and a large head compared to body size (relative macrocephaly). Other health problems have also been reported, including heart defects, seizures, undescended testes (cryptorchidism) in males, and a soft out-pouching in the lower abdomen (an inguinal hernia).\n\nFG syndrome affects intelligence and behavior. Almost everyone with the condition has intellectual disability, which ranges from mild to severe. Affected individuals tend to be friendly, inquisitive, and hyperactive, with a short attention span. Compared to people with other forms of intellectual disability, their socialization and daily living skills are strong, while verbal communication and language skills tend to be weaker.\n\nFG syndrome is a genetic condition that affects many parts of the body and occurs almost exclusively in males. "FG" represents the surname initials of the first family diagnosed with the disorder.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/336854">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_346753"><div><strong>Craniosynostosis 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>346753</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.">C1858160</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">Craniosynostosis is a primary abnormality of skull growth involving premature fusion of the cranial sutures such that the growth velocity of the skull often cannot match that of the developing brain. This produces skull deformity and, in some cases, raises intracranial pressure, which must be treated promptly to avoid permanent neurodevelopmental disability (summary by Fitzpatrick, 2013). For a discussion of genetic heterogeneity of craniosynostosis, see CRS1 (123100).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/346753">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_462224"><div><strong>Cranioectodermal dysplasia 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>462224</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.">C3150874</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Cranioectodermal dysplasia (CED) is a ciliopathy with skeletal involvement (narrow thorax, shortened proximal limbs, syndactyly, polydactyly, brachydactyly), ectodermal features (widely spaced hypoplastic teeth, hypodontia, sparse hair, skin laxity, abnormal nails), joint laxity, growth deficiency, and characteristic facial features (frontal bossing, low-set simple ears, high forehead, telecanthus, epicanthal folds, full cheeks, everted lower lip). Most affected children develop nephronophthisis that often leads to end-stage kidney disease in infancy or childhood, a major cause of morbidity and mortality. Hepatic fibrosis and retinal dystrophy are also observed. Dolichocephaly, often secondary to sagittal craniosynostosis, is a primary manifestation that distinguishes CED from most other ciliopathies. Brain malformations and developmental delay may also occur.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/462224">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_477139"><div><strong>Multiple congenital anomalies-hypotonia-seizures syndrome 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>477139</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.">C3275508</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Multiple congenital anomalies-hypotonia-seizures syndrome-2 (MCAHS2) is an X-linked recessive neurodevelopmental disorder characterized by dysmorphic features, neonatal hypotonia, early-onset myoclonic seizures, and variable congenital anomalies involving the central nervous, cardiac, and urinary systems. Some affected individuals die in infancy (summary by Johnston et al., 2012). The phenotype shows clinical variability with regard to severity and extraneurologic features. However, most patients present in infancy with early-onset epileptic encephalopathy associated with developmental arrest and subsequent severe neurologic disability; these features are consistent with a form of developmental and epileptic encephalopathy (DEE) (summary by Belet et al., 2014, Kato et al., 2014). The disorder is caused by a defect in glycosylphosphatidylinositol (GPI) biosynthesis. For a discussion of genetic heterogeneity of MCAHS, see MCAHS1 (614080). For a discussion of nomenclature and genetic heterogeneity of DEE, see 308350. For a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 (610293).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/477139">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_481703"><div><strong>Craniosynostosis and dental anomalies</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>481703</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.">C3280073</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">CRSDA is an autosomal recessive disorder characterized by craniosynostosis, maxillary hypoplasia, and dental anomalies, including malocclusion, delayed and ectopic tooth eruption, and/or supernumerary teeth. Some patients also display minor digit anomalies, such as syndactyly and/or clinodactyly (summary by Nieminen et al., 2011).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/481703">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_482604"><div><strong>Trigonocephaly 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>482604</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.">C3280974</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
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||
<div class="spaceAbove">Trigonocephaly occurs predominantly as a nonsyndromic craniosynostosis and has an estimated prevalence of between 1:15,000 and 1:68,000 live births (summary by Vissers et al., 2011). For a discussion of genetic heterogeneity of isolated trigonocephaly, see TRIGNO1 (190440). A syndromic form of trigonocephaly is associated with monosomy for an 8-Mb interval of chromosome 9p22.3 (see 158170).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/482604">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_815686"><div><strong>Multiple congenital anomalies-hypotonia-seizures syndrome 3</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>815686</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.">C3809356</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Multiple congenital anomalies-hypotonia-seizures syndrome is an autosomal recessive disorder characterized by neonatal hypotonia, lack of psychomotor development, seizures, dysmorphic features, and variable congenital anomalies involving the cardiac, urinary, and gastrointestinal systems. Most affected individuals die before 3 years of age (summary by Maydan et al., 2011). The disorder is caused by a defect in glycosylphosphatidylinositol (GPI) biosynthesis. For a discussion of genetic heterogeneity of MCAHS, see MCAHS1 (614080). For a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 (610293).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/815686">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_903483"><div><strong>Acrofacial dysostosis Cincinnati type</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>903483</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.">C4225317</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">The Cincinnati type of acrofacial dysostosis is a ribosomopathy characterized by a spectrum of mandibulofacial dysostosis phenotypes, with or without extrafacial skeletal defects (Weaver et al., 2015). In addition, a significant number of neurologic abnormalities have been reported, ranging from mild delays to refractory epilepsy, as well as an increased incidence of congenital heart defects, primarily septal in nature (Smallwood et al., 2023).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/903483">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1392440"><div><strong>Brain malformations with or without urinary tract defects</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1392440</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.">C4478940</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">For the purposes of this chapter, NFIA-related disorder is defined as heterozygous inactivation or disruption of only NFIA without involvement of adjacent or surrounding genes. NFIA-related disorder comprises central nervous system abnormalities (most commonly abnormalities of the corpus callosum) with or without urinary tract defects, such as unilateral or bilateral vesicoureteral reflux and hydronephrosis. Additional features include macrocephaly, seizures, developmental delay and/or cognitive impairment, nonspecific dysmorphic features, ventriculomegaly, and hypotonia, which can exacerbate motor delay and feeding issues in infancy. Rarer features may include strabismus, cutis marmorata, or craniosynostosis of the metopic, lambdoid, or sagittal suture.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1392440">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1648498"><div><strong>Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1648498</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.">C4748135</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/1648498">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1656239"><div><strong>Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1656239</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.">C4750837</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">ASXL3-related disorder is characterized by developmental delay or intellectual disability, typically in the moderate to severe range, with speech and language delay and/or absent speech. Affected individuals may also display autistic features. There may be issues with feeding. While dysmorphic facial features have been described, they are typically nonspecific. Affected individuals may also have hypotonia that can transition to spasticity resulting in unusual posture with flexion contractions of the elbows, wrists, and fingers. Other findings may include poor postnatal growth, strabismus, seizures, sleep disturbance, and dental anomalies.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1656239">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1684709"><div><strong>Intellectual developmental disorder with hypotonia and behavioral abnormalities</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1684709</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.">C5231489</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Intellectual developmental disorder with hypotonia and behavioral abnormalities (IDDHBA) is a neurodevelopmental disorder characterized by onset of hypotonia and variably impaired global developmental delay in infancy. Affected individuals tend to have learning disability, usually requiring special schooling, as well as behavioral abnormalities, such as autistic features and attention deficit-hyperactivity disorder (ADHD). Additional more variable features may include nonspecific dysmorphic facial features, congenital heart defects, visual or ocular movement anomalies, and poor feeding and/or gastroesophageal reflux (summary by Calpena et al., 2019).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1684709">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1788942"><div><strong>Multiple congenital anomalies-neurodevelopmental syndrome, X-linked</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1788942</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.">C5542341</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">X-linked multiple congenital anomalies-neurodevelopmental syndrome (MCAND) is an X-linked recessive congenital multisystemic disorder characterized by poor growth, global developmental delay with impaired intellectual development, and variable abnormalities of the cardiac, skeletal, and genitourinary systems. Most affected individuals also have hypotonia and dysmorphic craniofacial features. Brain imaging typically shows enlarged ventricles and thin corpus callosum; some have microcephaly, whereas others have hydrocephalus. The severity of the disorder is highly variable, ranging from death in early infancy to survival into the second or third decade. Pathogenetically, the disorder results from disrupted gene expression and signaling during embryogenesis, thus affecting multiple systems (summary by Tripolszki et al., 2021 and Beck et al., 2021). Beck et al. (2021) referred to the disorder as LINKED syndrome (LINKage-specific deubiquitylation deficiency-induced Embryonic Defects).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1788942">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1785087"><div><strong>White-Kernohan syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1785087</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.">C5543635</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">White-Kernohan syndrome (WHIKERS) is a neurodevelopmental disorder characterized by global developmental delay with variably impaired intellectual development, hypotonia, and characteristic facial features. Some patients may have abnormalities of other systems, including genitourinary and skeletal (summary by White et al., 2021).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1785087">Condition Record</a></div></div>
|
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<div class="divPopper rprt" id="rdis_1804653"><div><strong>Neurodevelopmental disorder with poor growth and skeletal anomalies</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1804653</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.">C5676990</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Neurodevelopmental disorder with poor growth and skeletal anomalies (NEDGS) is an autosomal recessive disorder characterized by global developmental delay and impaired intellectual development apparent from infancy. Affected individuals have hypotonia, delayed walking, poor or absent speech, and variable skeletal anomalies. More variable features include seizures, nonspecific dysmorphic facial features, oculomotor apraxia, and nonspecific brain imaging abnormalities (Iqbal et al., 2021).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1804653">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1823982"><div><strong>Neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1823982</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.">C5774209</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities (NEDSMBA) is an autosomal recessive disorder characterized by a core phenotype of moderate to profound developmental delay, progressive microcephaly, epilepsy, and periventricular calcifications (summary by Rosenhahn et al., 2022).</div>
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||
<div class="spaceAbove nowrap">See: <a href="/medgen/1823982">Condition Record</a></div></div>
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||
<div class="divPopper rprt" id="rdis_1847194"><div><strong>Neurodevelopmental disorder with impaired language, behavioral abnormalities, and dysmorphic facies</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1847194</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.">C5882686</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">Neurodevelopmental disorder with impaired language, behavioral abnormalities, and dysmorphic facies (NEDLBF) is characterized by global developmental delay, speech delay, variably impaired intellectual development, behavioral abnormalities, and dysmorphic facial features. The phenotype and severity of the disorder is heterogeneous, ranging from borderline to severe. Brain imaging is usually normal. More variable additional features include early feeding difficulties, failure to thrive, short stature, mild visual impairment, hypotonia, seizures (particularly febrile), and distal skeletal defects of the hands and feet (Jia et al., 2022).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/1847194">Condition Record</a></div></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_903483" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Acrofacial dysostosis Cincinnati type</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1392440" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Brain malformations with or without urinary tract defects</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_462224" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cranioectodermal dysplasia 2</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_346753" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Craniosynostosis 2</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_481703" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Craniosynostosis and dental anomalies</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (22)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_336854" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">FG syndrome 5</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_120531" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Greig cephalopolysyndactyly syndrome</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1648498" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1684709" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Intellectual developmental disorder with hypotonia and behavioral abnormalities</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_334114" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Joubert syndrome 2</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_322167" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Lambdoidal craniosynostosis</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_477139" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Multiple congenital anomalies-hypotonia-seizures syndrome 2</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_815686" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Multiple congenital anomalies-hypotonia-seizures syndrome 3</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1788942" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Multiple congenital anomalies-neurodevelopmental syndrome, X-linked</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1847194" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neurodevelopmental disorder with impaired language, behavioral abnormalities, and dysmorphic facies</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1804653" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neurodevelopmental disorder with poor growth and skeletal anomalies</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1823982" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1656239" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_162917" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Simpson-Golabi-Behmel syndrome type 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_98473" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Trigonocephaly 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_482604" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Trigonocephaly 2</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1785087" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">White-Kernohan syndrome</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/35998125">Prenatal Diagnosis of Craniosynostosis Using Ultrasound.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">DeFreitas CA,
|
||
Carr SR,
|
||
Merck DL,
|
||
Byrne MM,
|
||
Linden OE,
|
||
Stiles EA,
|
||
Sullivan SR,
|
||
Taylor HO</span><br />
|
||
<span class="medgenPMjournal">Plast Reconstr Surg</span>
|
||
2022 Nov 1;150(5):1084-1089.
|
||
Epub 2022 Aug 24
|
||
doi: 10.1097/PRS.0000000000009608.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35998125" target="_blank">35998125</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32499606">SMAD6 variants in craniosynostosis: genotype and phenotype evaluation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Calpena E,
|
||
Cuellar A,
|
||
Bala K,
|
||
Swagemakers SMA,
|
||
Koelling N,
|
||
McGowan SJ,
|
||
Phipps JM,
|
||
Balasubramanian M,
|
||
Cunningham ML,
|
||
Douzgou S,
|
||
Lattanzi W,
|
||
Morton JEV,
|
||
Shears D,
|
||
Weber A,
|
||
Wilson LC,
|
||
Lord H,
|
||
Lester T,
|
||
Johnson D,
|
||
Wall SA,
|
||
Twigg SRF,
|
||
Mathijssen IMJ,
|
||
Boardman-Pretty F;
|
||
Genomics England Research Consortium,
|
||
Boyadjiev SA,
|
||
Wilkie AOM</span><br />
|
||
<span class="medgenPMjournal">Genet Med</span>
|
||
2020 Sep;22(9):1498-1506.
|
||
Epub 2020 Jun 5
|
||
doi: 10.1038/s41436-020-0817-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32499606" target="_blank">32499606</a><a href="/pmc/articles/PMC7462747" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28538575">The Management of Trigonoscaphocephaly as a Result of Combined Metopic and Sagittal Synostosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dobbs TD,
|
||
Salahuddin O,
|
||
Jayamohan J,
|
||
Richards P,
|
||
Magdum S,
|
||
Wall SA,
|
||
Johnson D</span><br />
|
||
<span class="medgenPMjournal">Plast Reconstr Surg</span>
|
||
2017 Jun;139(6):1325e-1332e.
|
||
doi: 10.1097/PRS.0000000000003371.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28538575" target="_blank">28538575</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22metopic%20synostosis%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 (6)</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/33915146">A new approach of crenellated fronto-orbital advancement for the management of trigonocephaly: Technical note.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chauvel-Picard J,
|
||
Lary A,
|
||
Beuriat PA,
|
||
Paulus C,
|
||
Szathmari A,
|
||
Mottolese C,
|
||
Daurade M,
|
||
Di Rocco F,
|
||
Gleizal A</span><br />
|
||
<span class="medgenPMjournal">Neurochirurgie</span>
|
||
2022 Jan;68(1):102-105.
|
||
Epub 2021 Apr 26
|
||
doi: 10.1016/j.neuchi.2021.04.010.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33915146" target="_blank">33915146</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34187730">Is computer-assisted design and manufacturing technology useful in the surgical management of trigonocephaly?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Julie CP,
|
||
Pierre-Aurélien B,
|
||
Mathieu D,
|
||
Alexandru S,
|
||
Carmine M,
|
||
Christian P,
|
||
Federico DR,
|
||
Arnaud G</span><br />
|
||
<span class="medgenPMjournal">J Craniomaxillofac Surg</span>
|
||
2021 Nov;49(11):993-999.
|
||
Epub 2021 Jun 15
|
||
doi: 10.1016/j.jcms.2021.06.003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34187730" target="_blank">34187730</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31562880">The metopic suture: Natural history.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Vinchon M</span><br />
|
||
<span class="medgenPMjournal">Neurochirurgie</span>
|
||
2019 Nov;65(5):239-245.
|
||
Epub 2019 Sep 25
|
||
doi: 10.1016/j.neuchi.2019.09.006.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31562880" target="_blank">31562880</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23154373">Bregmatic wormian bone and metopic synostosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Stotland MA,
|
||
Do NK,
|
||
Knapik TJ</span><br />
|
||
<span class="medgenPMjournal">J Craniofac Surg</span>
|
||
2012 Nov;23(7 Suppl 1):2015-8.
|
||
doi: 10.1097/SCS.0b013e318262d6ad.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23154373" target="_blank">23154373</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22872250">Anterior fronto-orbital remodeling for trigonocephay.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Di Rocco F,
|
||
Arnaud E,
|
||
Marchac D,
|
||
Vergnaud E,
|
||
Baugnon T,
|
||
Vecchione A,
|
||
Renier D</span><br />
|
||
<span class="medgenPMjournal">Childs Nerv Syst</span>
|
||
2012 Sep;28(9):1369-73.
|
||
Epub 2012 Aug 8
|
||
doi: 10.1007/s00381-012-1841-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22872250" target="_blank">22872250</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Metopic%20synostosis%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 (167)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35787823">Management of Unicoronal and Metopic Synostoses: Minimally Invasive Approaches.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hayek GM,
|
||
Jimenez DF,
|
||
Yates DM</span><br />
|
||
<span class="medgenPMjournal">Oral Maxillofac Surg Clin North Am</span>
|
||
2022 Aug;34(3):381-394.
|
||
Epub 2022 Jul 2
|
||
doi: 10.1016/j.coms.2022.02.002.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35787823" target="_blank">35787823</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32487807">Saethre-Chotzen Syndrome: A Report of 7 Patients and Review of the Literature.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Abulezz TA,
|
||
Allam KA,
|
||
Wan DC,
|
||
Lee JC,
|
||
Kawamoto HK</span><br />
|
||
<span class="medgenPMjournal">Ann Plast Surg</span>
|
||
2020 Sep;85(3):251-255.
|
||
doi: 10.1097/SAP.0000000000002391.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32487807" target="_blank">32487807</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31562880">The metopic suture: Natural history.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Vinchon M</span><br />
|
||
<span class="medgenPMjournal">Neurochirurgie</span>
|
||
2019 Nov;65(5):239-245.
|
||
Epub 2019 Sep 25
|
||
doi: 10.1016/j.neuchi.2019.09.006.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31562880" target="_blank">31562880</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27476922">Children with Metopic Ridge.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hicdonmez T</span><br />
|
||
<span class="medgenPMjournal">Turk Neurosurg</span>
|
||
2017;27(4):585-589.
|
||
doi: 10.5137/1019-5149.JTN.16886-15.2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27476922" target="_blank">27476922</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23154373">Bregmatic wormian bone and metopic synostosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Stotland MA,
|
||
Do NK,
|
||
Knapik TJ</span><br />
|
||
<span class="medgenPMjournal">J Craniofac Surg</span>
|
||
2012 Nov;23(7 Suppl 1):2015-8.
|
||
doi: 10.1097/SCS.0b013e318262d6ad.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23154373" target="_blank">23154373</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Metopic%20synostosis%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 (83)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/33280101">Observations on the growth of temporalis muscle: A 3D CT imaging study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Moltoni G,
|
||
D'Arco F,
|
||
Rossi-Espagnet MC,
|
||
James G,
|
||
Hayward R</span><br />
|
||
<span class="medgenPMjournal">J Anat</span>
|
||
2021 May;238(5):1218-1224.
|
||
Epub 2020 Dec 5
|
||
doi: 10.1111/joa.13370.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33280101" target="_blank">33280101</a><a href="/pmc/articles/PMC8053578" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31568780">Recent advances in trigonocephaly.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mocquard C,
|
||
Aillet S,
|
||
Riffaud L</span><br />
|
||
<span class="medgenPMjournal">Neurochirurgie</span>
|
||
2019 Nov;65(5):246-251.
|
||
Epub 2019 Sep 27
|
||
doi: 10.1016/j.neuchi.2019.09.014.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31568780" target="_blank">31568780</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30054806">Control of metopic emissary veins in trigonocephaly surgery. Technical note.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">di Rocco F,
|
||
Gleizal A,
|
||
Lohkamp L,
|
||
Szathmari A,
|
||
Paulus C,
|
||
Mottolese C</span><br />
|
||
<span class="medgenPMjournal">Childs Nerv Syst</span>
|
||
2018 Dec;34(12):2481-2484.
|
||
Epub 2018 Jul 27
|
||
doi: 10.1007/s00381-018-3928-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30054806" target="_blank">30054806</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29561489">Isolated Post-Shunt Metopic Synostosis and Neural Tube Defects.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Abouhassan W,
|
||
Chao JK,
|
||
Murthy AS</span><br />
|
||
<span class="medgenPMjournal">J Craniofac Surg</span>
|
||
2018 Jul;29(5):e492-e497.
|
||
doi: 10.1097/SCS.0000000000004507.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29561489" target="_blank">29561489</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29135736">Use of Acellular Dermal Matrix in Craniosynostosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Madaree A</span><br />
|
||
<span class="medgenPMjournal">J Craniofac Surg</span>
|
||
2018 Jan;29(1):126-129.
|
||
doi: 10.1097/SCS.0000000000004123.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29135736" target="_blank">29135736</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Metopic%20synostosis%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 (21)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/31794452">Custom-Made Three-Dimensional Models for Craniosynostosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bowen L,
|
||
Benech R,
|
||
Shafi A,
|
||
Gallo P,
|
||
Kandasamy J,
|
||
Kaliaperumal C,
|
||
Campbell DF</span><br />
|
||
<span class="medgenPMjournal">J Craniofac Surg</span>
|
||
2020 Jan/Feb;31(1):292-293.
|
||
doi: 10.1097/SCS.0000000000005927.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31794452" target="_blank">31794452</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27476922">Children with Metopic Ridge.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hicdonmez T</span><br />
|
||
<span class="medgenPMjournal">Turk Neurosurg</span>
|
||
2017;27(4):585-589.
|
||
doi: 10.5137/1019-5149.JTN.16886-15.2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27476922" target="_blank">27476922</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23154373">Bregmatic wormian bone and metopic synostosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Stotland MA,
|
||
Do NK,
|
||
Knapik TJ</span><br />
|
||
<span class="medgenPMjournal">J Craniofac Surg</span>
|
||
2012 Nov;23(7 Suppl 1):2015-8.
|
||
doi: 10.1097/SCS.0b013e318262d6ad.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23154373" target="_blank">23154373</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22872249">Metopic synostosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">van der Meulen J</span><br />
|
||
<span class="medgenPMjournal">Childs Nerv Syst</span>
|
||
2012 Sep;28(9):1359-67.
|
||
Epub 2012 Aug 8
|
||
doi: 10.1007/s00381-012-1803-z.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22872249" target="_blank">22872249</a><a href="/pmc/articles/PMC3413823" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21344634">A girl with metopic synostosis and trisomy 13 mosaicism: case report and review of the literature.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Aypar E,
|
||
Yildirim MS,
|
||
Sert A,
|
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Ciftci I,
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Odabas D</span><br />
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<span class="medgenPMjournal">Am J Med Genet A</span>
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2011 Mar;155A(3):638-41.
|
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Epub 2011 Feb 22
|
||
doi: 10.1002/ajmg.a.33839.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21344634" target="_blank">21344634</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Metopic%20synostosis%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 (68)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38691155">Comparison of emotional and behavioral regulation between metopic and sagittal synostosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Almeida MN,
|
||
Alper DP,
|
||
Parikh N,
|
||
De Baun H,
|
||
Kammien A,
|
||
Persing JA,
|
||
Alperovich M</span><br />
|
||
<span class="medgenPMjournal">Childs Nerv Syst</span>
|
||
2024 Sep;40(9):2789-2799.
|
||
Epub 2024 May 1
|
||
doi: 10.1007/s00381-024-06387-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38691155" target="_blank">38691155</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34187730">Is computer-assisted design and manufacturing technology useful in the surgical management of trigonocephaly?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Julie CP,
|
||
Pierre-Aurélien B,
|
||
Mathieu D,
|
||
Alexandru S,
|
||
Carmine M,
|
||
Christian P,
|
||
Federico DR,
|
||
Arnaud G</span><br />
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||
<span class="medgenPMjournal">J Craniomaxillofac Surg</span>
|
||
2021 Nov;49(11):993-999.
|
||
Epub 2021 Jun 15
|
||
doi: 10.1016/j.jcms.2021.06.003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34187730" target="_blank">34187730</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33483210">Distinguishing craniomorphometric characteristics and severity in metopic synostosis patients.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chandler L,
|
||
Park KE,
|
||
Allam O,
|
||
Mozaffari MA,
|
||
Khetpal S,
|
||
Smetona J,
|
||
Pourtaheri N,
|
||
Lu X,
|
||
Persing JA,
|
||
Alperovich M</span><br />
|
||
<span class="medgenPMjournal">Int J Oral Maxillofac Surg</span>
|
||
2021 Aug;50(8):1040-1046.
|
||
Epub 2021 Jan 20
|
||
doi: 10.1016/j.ijom.2020.11.022.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33483210" target="_blank">33483210</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31794452">Custom-Made Three-Dimensional Models for Craniosynostosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bowen L,
|
||
Benech R,
|
||
Shafi A,
|
||
Gallo P,
|
||
Kandasamy J,
|
||
Kaliaperumal C,
|
||
Campbell DF</span><br />
|
||
<span class="medgenPMjournal">J Craniofac Surg</span>
|
||
2020 Jan/Feb;31(1):292-293.
|
||
doi: 10.1097/SCS.0000000000005927.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31794452" target="_blank">31794452</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31568780">Recent advances in trigonocephaly.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mocquard C,
|
||
Aillet S,
|
||
Riffaud L</span><br />
|
||
<span class="medgenPMjournal">Neurochirurgie</span>
|
||
2019 Nov;65(5):246-251.
|
||
Epub 2019 Sep 27
|
||
doi: 10.1016/j.neuchi.2019.09.014.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31568780" target="_blank">31568780</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Metopic%20synostosis%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 (76)</a></div></div>
|
||
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|
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|
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<div class="portlet mgSection" id="ID_104">
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||
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|
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<div class="nl"><a target="_blank" href="/pubmed/39627759">The impact of RUNX2 gene variants on cleidocranial dysplasia phenotype: a systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Thaweesapphithak S,
|
||
Termteerapornpimol K,
|
||
Wongsirisuwan S,
|
||
Chantarangsu S,
|
||
Porntaveetus T</span><br />
|
||
<span class="medgenPMjournal">J Transl Med</span>
|
||
2024 Dec 3;22(1):1099.
|
||
doi: 10.1186/s12967-024-05904-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39627759" target="_blank">39627759</a><a href="/pmc/articles/PMC11613773" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Metopic%20synostosis%22%20AND%20systematic%5Bsb%5D%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (1)</a></div></div>
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|
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|
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<div class="supplemental col three_col last">
|
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<h2 class="offscreen_noflow">Supplemental Content</h2>
|
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<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22metopic%20synostosis%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">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul></div>
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<div class="portlet_content ln"><ul><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Metopic%20synostosis" target="_blank">MedlinePlus</a></li></ul></div>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=1" href="/portal/utils/pageresolver.fcgi?recordid=67d0b73584f3725e59c7585e">Metopic synostosis</a>
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