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<meta name="keywords" content="C0221355, congenital abnormality, enlarged brain, finding, large head, large skull, macrencephaly, macrocephalies, macrocephaly, macrocrania, macroencephaly, megacephalies, megacephaly, megalencephalies, megalencephaly, megalencephaly (disease), megalocephalies, megalocephaly, skull enlargement, 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="Diffuse enlargement of the entire cerebral hemispheres leading to macrocephaly (with or without overlying cortical dysplasia)." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
UID=65141
ConceptID=C0221355
-->
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Megalencephaly</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>65141</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.">C0221355</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>Macroencephaly; Megalencephaly (disease)</td></tr>
<tr><td><span class="bold">SNOMED CT: </span></td>
<td>Skull enlargement (12138000); Large skull (12138000); Large head (12138000)</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:0001355">HP:0001355</a></td></tr>
<tr><td>Monarch Initiative:</td>
<td><a href="https://monarchinitiative.org/disease/MONDO:0016608" target="_blank">MONDO:0016608</a></td></tr>
<tr><td>Orphanet:</td>
<td><a target="_blank" title="Orphanet: The portal for rare diseases and orphan drugs" href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&amp;Expert=2477">ORPHA2477</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">Diffuse enlargement of the entire cerebral hemispheres leading to macrocephaly (with or without overlying cortical dysplasia). [from <a title="Human Phenotype Ontology" href="http://www.human-phenotype-ontology.org" class="defSource" target="_blank">HPO</a>]</div>
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<div class="portlet mgSection" id="ID_118">
<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">Megalencephaly</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/105425" ref="tree=MeSH" title="MedGen record for Abnormality of the nervous system">Abnormality of the nervous system</a></span><ul><li><span class="TLline"><a href="/medgen/868416" ref="tree=MeSH" title="MedGen record for Abnormal nervous system morphology">Abnormal nervous system morphology</a></span><ul><li><span class="TLline"><a href="/medgen/892343" ref="tree=MeSH" title="MedGen record for Morphological central nervous system abnormality">Morphological central nervous system abnormality</a></span><ul><li><span class="TLline"><a href="/medgen/866738" ref="tree=MeSH" title="MedGen record for Abnormal brain morphology">Abnormal brain morphology</a></span><ul><li><span class="TLline"><a href="/medgen/866620" ref="tree=MeSH" title="MedGen record for Abnormal forebrain morphology">Abnormal forebrain morphology</a></span><ul><li><span class="TLline"><a href="/medgen/867394" ref="tree=MeSH" title="MedGen record for Abnormal cerebral morphology">Abnormal cerebral morphology</a></span><ul><li><span class="matched_ds">Megalencephaly</span><ul><li><span class="TLline"><a href="/medgen/164085" ref="tree=MeSH" title="MedGen record for Acquired Macrocephaly">Acquired Macrocephaly</a></span></li><li><span class="TLline"><a href="/medgen/1815079" ref="tree=MeSH" title="MedGen record for Dysplastic megalencephaly">Dysplastic megalencephaly</a></span></li><li><span class="TLline"><a href="/medgen/140910" ref="tree=MeSH" title="MedGen record for Hemimegalencephaly">Hemimegalencephaly</a></span></li><li><span class="TLline"><a href="/medgen/977842" ref="tree=MeSH" title="MedGen record for Isolated megalencephaly">Isolated megalencephaly</a></span></li><li><span class="TLline"><a href="/medgen/322956" ref="tree=MeSH" title="MedGen record for Macrocephaly at birth">Macrocephaly at birth</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_1289"><div><strong>Achondroplasia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1289</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.">C0001080</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
<div class="spaceAbove">Achondroplasia is the most common cause of disproportionate short stature. Affected individuals have rhizomelic shortening of the limbs, macrocephaly, and characteristic facial features with frontal bossing and midface retrusion. In infancy, hypotonia is typical, and acquisition of developmental motor milestones is often both aberrant in pattern and delayed. Intelligence and life span are usually near normal, although craniocervical junction compression increases the risk of death in infancy. Additional complications include obstructive sleep apnea, middle ear dysfunction, kyphosis, and spinal stenosis.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1289">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_7858"><div><strong>Acrocephalosyndactyly type I</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>7858</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.">C0001193</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
<div class="spaceAbove">Apert syndrome is characterized by the presence of multisuture craniosynostosis, midface retrusion, and syndactyly of the hands with fusion of the second through fourth nails. Almost all affected individuals have coronal craniosynostosis, and a majority also have involvement of the sagittal and lambdoid sutures. The midface in Apert syndrome is underdeveloped as well as retruded; a subset of affected individuals have cleft palate. The hand in Apert syndrome always includes fusion of the middle three digits; the thumb and fifth finger are sometimes also involved. Feeding issues, dental abnormalities, hearing loss, hyperhidrosis, and progressive synostosis of multiple bones (skull, hands, feet, carpus, tarsus, and cervical vertebrae) are also common. Multilevel airway obstruction may be present and can be due to narrowing of the nasal passages, tongue-based airway obstruction, and/or tracheal anomalies. Nonprogressive ventriculomegaly is present in a majority of individuals, with a small subset having true hydrocephalus. Most individuals with Apert syndrome have normal intelligence or mild intellectual disability; moderate-to-severe intellectual disability has been reported in some individuals. A minority of affected individuals have structural cardiac abnormalities, true gastrointestinal malformations, and anomalies of the genitourinary tract.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/7858">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_167083"><div><strong>Curry-Jones syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>167083</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.">C0795915</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Curry-Jones syndrome (CRJS) is a multisystem disorder characterized by patchy skin lesions, polysyndactyly, diverse cerebral malformations, unicoronal craniosynostosis, iris colobomas, microphthalmia, and intestinal malrotation with myofibromas or hamartomas (summary by Twigg et al., 2016).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/167083">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_163196"><div><strong>Pseudoaminopterin syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>163196</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.">C0795939</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">The pseudoaminopterin syndrome (aminopterin syndrome sine aminopterin; ASSA) is a multiple congenital anomaly disorder characterized by ossification defects of the skull, dysmorphic facial features, delayed development, and variable limb defects. The clinical features resemble the embryopathy caused by maternal treatment with the folic acid antagonist aminopterin, which has been recognized since 1952 (Thiersch, 1952) when aminopterin was used as an abortifacient. The characteristic phenotype of the children who survived infancy after having been exposed to aminopterin or its methyl derivative, methotrexate, in early pregnancy included a very unusual facies, skull anomalies, and skeletal defects (summary by Fraser et al., 1987).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/163196">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_208674"><div><strong>Early-onset parkinsonism-intellectual disability syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>208674</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.">C0796195</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Waisman syndrome (WSMN) is an X-linked neurologic disorder characterized by delayed psychomotor development, impaired intellectual development, and early-onset Parkinson disease (summary by Wilson et al., 2014).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/208674">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_344470"><div><strong>Megalencephaly with dysmyelination</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>344470</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.">C1855309</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/344470">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_355421"><div><strong>Megalencephaly-capillary malformation-polymicrogyria syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>355421</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.">C1865285</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">PIK3CA-related overgrowth spectrum (PROS) encompasses a range of clinical findings in which the core features are congenital or early-childhood onset of segmental/focal overgrowth with or without cellular dysplasia. Prior to the identification of PIK3CA as the causative gene, PROS was separated into distinct clinical syndromes based on the tissues and/or organs involved (e.g., MCAP [megalencephaly-capillary malformation] syndrome and CLOVES [congenital lipomatous asymmetric overgrowth of the trunk, lymphatic, capillary, venous, and combined-type vascular malformations, epidermal nevi, skeletal and spinal anomalies] syndrome). The predominant areas of overgrowth include the brain, limbs (including fingers and toes), trunk (including abdomen and chest), and face, all usually in an asymmetric distribution. Generalized brain overgrowth may be accompanied by secondary overgrowth of specific brain structures resulting in ventriculomegaly, a markedly thick corpus callosum, and cerebellar tonsillar ectopia with crowding of the posterior fossa. Vascular malformations may include capillary, venous, and less frequently, arterial or mixed (capillary-lymphatic-venous or arteriovenous) malformations. Lymphatic malformations may be in various locations (internal and/or external) and can cause various clinical issues, including swelling, pain, and occasionally localized bleeding secondary to trauma. Lipomatous overgrowth may occur ipsilateral or contralateral to a vascular malformation, if present. The degree of intellectual disability appears to be mostly related to the presence and severity of seizures, cortical dysplasia (e.g., polymicrogyria), and hydrocephalus. Many children have feeding difficulties that are often multifactorial in nature. Endocrine issues affect a small number of individuals and most commonly include hypoglycemia (largely hypoinsulinemic hypoketotic hypoglycemia), hypothyroidism, and growth hormone deficiency.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/355421">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_370203"><div><strong>Polyhydramnios, megalencephaly, and symptomatic epilepsy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>370203</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.">C1970203</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">A rare genetic neurological disorder with characteristics of pregnancy complicated by polyhydramnios, severe intractable epilepsy presenting in infancy, severe hypotonia, decreased muscle mass, global developmental delay, craniofacial dysmorphism (long face, large forehead, peaked eyebrows, broad nasal bridge, hypertelorism, large mouth with thick lips), and macrocephaly due to megalencephaly and hydrocephalus in most patients. Additional features that have been reported include cardiac anomalies like atrial septal defects, diabetes insipidus and nephrocalcinosis among others.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/370203">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_393098"><div><strong>Severe achondroplasia-developmental delay-acanthosis nigricans syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>393098</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.">C2674173</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
<div class="spaceAbove">SADDAN dysplasia (severe achondroplasia with developmental delay and acanthosis nigricans) is a very rare skeletal dysplasia characterized by the constellation of these features. Radiology reveals 'ram's horn' shaped clavicles and reverse bowing of lower limbs. Approximately half of patients die before the fourth week of life secondary to respiratory failure (summary by Zankl et al., 2008).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/393098">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_462207"><div><strong>Chromosome 4Q32.1-q32.2 triplication syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>462207</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.">C3150857</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/462207">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_462705"><div><strong>Megalencephalic leukoencephalopathy with subcortical cysts 2A</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>462705</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.">C3151355</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is characterized by two phenotypes: classic MLC and improving MLC. Individuals with classic MLC present with macrocephaly, often in association with seizures, gradual onset of ataxia, spasticity, and sometimes extrapyramidal findings, mild gross motor developmental delays, and late-onset cognitive deterioration. Macrocephaly, observed in most affected individuals, may be present at birth but more frequently develops during the first year of life. The degree of macrocephaly is variable, with head circumferences reaching four to six standard deviations greater than the mean. After the first year of life, head growth trajectory typically normalizes and growth follows a line parallel to, although several standard deviations above, the 98th centile. Initial mental and motor development is normal in most individuals. Walking is often unstable, followed by ataxia of the trunk and extremities, pyramidal dysfunction, and brisk deep tendon reflexes. Early-onset seizures are common, and approximately 60% of individuals have epilepsy that is typically well controlled with anti-seizure medication, but status epilepticus occurs relatively frequently. Cognitive deterioration occurs later in the course of the disease and is usually mild in severity. Overall disease severity varies, with some individuals being able to ambulate independently for only a few years from disease onset to other individuals continuing to independently walk in the fifth decade of life. Individuals with improving MLC have a similar initial presentation with delayed cognitive or motor development, followed by an improving clinical course: macrocephaly usually persists, but some children become normocephalic; motor function improves or normalizes; hypotonia and clumsiness may persist in some or neurologic examination may become normal. Some individuals have intellectual disability that is stable, with or without autism spectrum disorder. Epilepsy is much less frequent than in classic MLC.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/462705">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_462706"><div><strong>Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without intellectual disability</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>462706</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.">C3151356</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is characterized by two phenotypes: classic MLC and improving MLC. Individuals with classic MLC present with macrocephaly, often in association with seizures, gradual onset of ataxia, spasticity, and sometimes extrapyramidal findings, mild gross motor developmental delays, and late-onset cognitive deterioration. Macrocephaly, observed in most affected individuals, may be present at birth but more frequently develops during the first year of life. The degree of macrocephaly is variable, with head circumferences reaching four to six standard deviations greater than the mean. After the first year of life, head growth trajectory typically normalizes and growth follows a line parallel to, although several standard deviations above, the 98th centile. Initial mental and motor development is normal in most individuals. Walking is often unstable, followed by ataxia of the trunk and extremities, pyramidal dysfunction, and brisk deep tendon reflexes. Early-onset seizures are common, and approximately 60% of individuals have epilepsy that is typically well controlled with anti-seizure medication, but status epilepticus occurs relatively frequently. Cognitive deterioration occurs later in the course of the disease and is usually mild in severity. Overall disease severity varies, with some individuals being able to ambulate independently for only a few years from disease onset to other individuals continuing to independently walk in the fifth decade of life. Individuals with improving MLC have a similar initial presentation with delayed cognitive or motor development, followed by an improving clinical course: macrocephaly usually persists, but some children become normocephalic; motor function improves or normalizes; hypotonia and clumsiness may persist in some or neurologic examination may become normal. Some individuals have intellectual disability that is stable, with or without autism spectrum disorder. Epilepsy is much less frequent than in classic MLC.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/462706">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_482674"><div><strong>Intellectual disability, autosomal recessive 34</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>482674</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.">C3281044</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">MRT34 is an autosomal recessive neurologic disorder characterized by mildly to moderately impaired intellectual development and megalencephaly or enlarged head circumference. Brain imaging shows a mild variant of lissencephaly with anterior-predominant pachygyria with shallow and unusually wide sulci and mildly thickened cortex. Some patients may have seizures (summary by Di Donato et al., 2016).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/482674">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_812057"><div><strong>Megalencephaly, autosomal dominant</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>812057</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.">C3805727</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Primary megalencephaly is defined as a head circumference about the 98th percentile that most likely is due to brain enlargement and is not secondary to disease (review by Petersson et al., 1999).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/812057">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_812742"><div><strong>Macrocephaly/megalencephaly syndrome, autosomal recessive</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>812742</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.">C3806412</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Macrocephaly refers to an abnormally enlarged head inclusive of the scalp, cranial bones, and intracranial contents. Macrocephaly may be due to megalencephaly (true enlargement of the brain parenchyma), and the 2 terms are often used interchangeably in the genetic literature (reviews by Olney, 2007 and Williams et al., 2008). Autosomal recessive macrocephaly/megalencephaly syndrome is characterized by an enlarged cranium apparent at birth or in early childhood. Affected individuals have intellectual disability and may have dysmorphic facial features resulting from the macrocephaly (summary by Alfaiz et al., 2014).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/812742">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_861164"><div><strong>Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>861164</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.">C4012727</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">MPPH (megalencephaly-postaxial polydactyly-polymicrogyria-hydrocephalus) syndrome is a developmental brain disorder characterized by megalencephaly (brain overgrowth) with the cortical malformation bilateral perisylvian polymicrogyria (BPP). At birth the occipital frontal circumference (OFC) ranges from normal to 6 standard deviations (SD) above the mean for age, sex, and gestational age; in older individuals the range is from 3 to 10 SD above the mean. A variable degree of ventriculomegaly is seen in almost all children with MPPH syndrome; nearly 50% of individuals have frank hydrocephalus. Neurologic problems associated with BPP include oromotor dysfunction (100%), epilepsy (50%), and mild-to-severe intellectual disability (100%). Postaxial hexadactyly occurs in 50% of individuals with MPPH syndrome.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/861164">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_863179"><div><strong>Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>863179</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.">C4014742</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">MPPH (megalencephaly-postaxial polydactyly-polymicrogyria-hydrocephalus) syndrome is a developmental brain disorder characterized by megalencephaly (brain overgrowth) with the cortical malformation bilateral perisylvian polymicrogyria (BPP). At birth the occipital frontal circumference (OFC) ranges from normal to 6 standard deviations (SD) above the mean for age, sex, and gestational age; in older individuals the range is from 3 to 10 SD above the mean. A variable degree of ventriculomegaly is seen in almost all children with MPPH syndrome; nearly 50% of individuals have frank hydrocephalus. Neurologic problems associated with BPP include oromotor dysfunction (100%), epilepsy (50%), and mild-to-severe intellectual disability (100%). Postaxial hexadactyly occurs in 50% of individuals with MPPH syndrome.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/863179">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_899689"><div><strong>Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>899689</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.">C4225259</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Smith-Kingsmore syndrome (SKS) is a rare autosomal dominant syndromic intellectual disability syndrome characterized by macrocephaly, seizures, umbilical hernia, and facial dysmorphic features including frontal bossing, midface hypoplasia, small chin, hypertelorism with downslanting palpebral fissures, depressed nasal bridge, smooth philtrum, and thin upper lip (Smith et al., 2013; Baynam et al., 2015).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/899689">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_934733"><div><strong>Macrocephaly, dysmorphic facies, and psychomotor retardation</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>934733</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.">C4310766</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Macrocephaly, dysmorphic facies, and psychomotor retardation (MDFPMR) is an autosomal recessive neurodevelopmental disorder characterized by large head and somatic overgrowth apparent at birth followed by global developmental delay. Affected individuals have characteristic dysmorphic facial features and persistently large head, but increased birth weight normalizes with age. Additional neurologic features, including seizures, hypotonia, and gait ataxia, may also occur. Patients show severe intellectual impairment (summary by Ortega-Recalde et al., 2015).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/934733">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1382152"><div><strong>Craniometadiaphyseal dysplasia wormian bone type</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1382152</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.">C4510809</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Craniometadiaphyseal dysplasia (CRMDD) is characterized clinically by macrocephaly with frontal prominence, dental hypoplasia, and increased bone fragility. Diagnostic radiologic features include thin bones in the superior part of calvaria with prominent wormian bones, diaphyseal widening of the long tubular bones in early childhood with wide undermineralized metaphyses in older individuals, widened ribs and clavicles, and broadening of short tubular bones with increased transparency and thin cortices (summary by Dhar et al., 2010).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1382152">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1826136"><div><strong>Megalencephalic leukoencephalopathy with subcortical cysts 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1826136</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.">C5779875</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is characterized by two phenotypes: classic MLC and improving MLC. Individuals with classic MLC present with macrocephaly, often in association with seizures, gradual onset of ataxia, spasticity, and sometimes extrapyramidal findings, mild gross motor developmental delays, and late-onset cognitive deterioration. Macrocephaly, observed in most affected individuals, may be present at birth but more frequently develops during the first year of life. The degree of macrocephaly is variable, with head circumferences reaching four to six standard deviations greater than the mean. After the first year of life, head growth trajectory typically normalizes and growth follows a line parallel to, although several standard deviations above, the 98th centile. Initial mental and motor development is normal in most individuals. Walking is often unstable, followed by ataxia of the trunk and extremities, pyramidal dysfunction, and brisk deep tendon reflexes. Early-onset seizures are common, and approximately 60% of individuals have epilepsy that is typically well controlled with anti-seizure medication, but status epilepticus occurs relatively frequently. Cognitive deterioration occurs later in the course of the disease and is usually mild in severity. Overall disease severity varies, with some individuals being able to ambulate independently for only a few years from disease onset to other individuals continuing to independently walk in the fifth decade of life. Individuals with improving MLC have a similar initial presentation with delayed cognitive or motor development, followed by an improving clinical course: macrocephaly usually persists, but some children become normocephalic; motor function improves or normalizes; hypotonia and clumsiness may persist in some or neurologic examination may become normal. Some individuals have intellectual disability that is stable, with or without autism spectrum disorder. Epilepsy is much less frequent than in classic MLC.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1826136">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1830483"><div><strong>Leukoencephalopathy with vanishing white matter 5</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1830483</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.">C5779973</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Childhood ataxia with central nervous system hypomyelination / vanishing white matter (CACH/VWM) is characterized by ataxia, spasticity, and variable optic atrophy. The phenotypic range includes a prenatal/congenital form, a subacute infantile form (onset age &lt;1 year), an early childhood-onset form (onset age 1 to &lt;4 years), a late childhood-/juvenile-onset form (onset age 4 to &lt;18 years), and an adult-onset form (onset =18 years). The prenatal/congenital form is characterized by severe encephalopathy. In the later-onset forms initial motor and intellectual development is normal or mildly delayed, followed by neurologic deterioration with a chronic progressive or subacute course. While in childhood-onset forms motor deterioration dominates, in adult-onset forms cognitive decline and personality changes dominate. Chronic progressive decline can be exacerbated by rapid deterioration during febrile illnesses or following head trauma or major surgical procedures, or by acute and extreme fright.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1830483">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1855924"><div><strong>Megalencephaly-polydactyly syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1855924</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.">C5935591</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Megalencephaly-polydactyly syndrome (MPAPA) is an autosomal dominant disorder characterized by megalencephaly, ventriculomegaly, postaxial polydactyly, and, notably, neuroblastoma during infancy (summary by Nishio et al., 2023).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1855924">Condition Record</a></div></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_812057" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Megalencephaly, autosomal dominant</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_355421" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Megalencephaly-capillary malformation-polymicrogyria syndrome</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1855924" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Megalencephaly-polydactyly syndrome</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_861164" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_863179" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_370203" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Polyhydramnios, megalencephaly, and symptomatic epilepsy</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_163196" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pseudoaminopterin syndrome</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_393098" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Severe achondroplasia-developmental delay-acanthosis nigricans 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/25557259">PIK3CA-related overgrowth spectrum (PROS): diagnostic and testing eligibility criteria, differential diagnosis, and evaluation.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Keppler-Noreuil KM,
Rios JJ,
Parker VE,
Semple RK,
Lindhurst MJ,
Sapp JC,
Alomari A,
Ezaki M,
Dobyns W,
Biesecker LG</span><br />
<span class="medgenPMjournal">Am J Med Genet A</span>
2015 Feb;167A(2):287-95.
Epub 2014 Dec 31
doi: 10.1002/ajmg.a.36836.
<span class="bold">PMID: </span><a href="/pubmed/25557259" target="_blank">25557259</a><a href="/pmc/articles/PMC4480633" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/3334205">Megalencephaly: types, clinical syndromes, and management.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">DeMyer W</span><br />
<span class="medgenPMjournal">Pediatr Neurol</span>
1986 Nov-Dec;2(6):321-8.
doi: 10.1016/0887-8994(86)90072-x.
<span class="bold">PMID: </span><a href="/pubmed/3334205" target="_blank">3334205</a></div>
<div class="nl"><a target="_blank" href="/pubmed/4673338">Megalencephaly in children. Clinical syndromes, genetic patterns, and differential diagnosis from other causes of megalocephaly.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">DeMeyer W</span><br />
<span class="medgenPMjournal">Neurology</span>
1972 Jun;22(6):634-43.
doi: 10.1212/wnl.22.6.634.
<span class="bold">PMID: </span><a href="/pubmed/4673338" target="_blank">4673338</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22megalencephaly%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 (12)</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/30842651">Overgrowth syndromes - clinical and molecular aspects and tumour risk.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Brioude F,
Toutain A,
Giabicani E,
Cottereau E,
Cormier-Daire V,
Netchine I</span><br />
<span class="medgenPMjournal">Nat Rev Endocrinol</span>
2019 May;15(5):299-311.
doi: 10.1038/s41574-019-0180-z.
<span class="bold">PMID: </span><a href="/pubmed/30842651" target="_blank">30842651</a></div>
<div class="nl"><a target="_blank" href="/pubmed/29897170">Further delineation of Malan syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Priolo M,
Schanze D,
Tatton-Brown K,
Mulder PA,
Tenorio J,
Kooblall K,
Acero IH,
Alkuraya FS,
Arias P,
Bernardini L,
Bijlsma EK,
Cole T,
Coubes C,
Dapia I,
Davies S,
Di Donato N,
Elcioglu NH,
Fahrner JA,
Foster A,
González NG,
Huber I,
Iascone M,
Kaiser AS,
Kamath A,
Liebelt J,
Lynch SA,
Maas SM,
Mammì C,
Mathijssen IB,
McKee S,
Menke LA,
Mirzaa GM,
Montgomery T,
Neubauer D,
Neumann TE,
Pintomalli L,
Pisanti MA,
Plomp AS,
Price S,
Salter C,
Santos-Simarro F,
Sarda P,
Segovia M,
Shaw-Smith C,
Smithson S,
Suri M,
Valdez RM,
Van Haeringen A,
Van Hagen JM,
Zollino M,
Lapunzina P,
Thakker RV,
Zenker M,
Hennekam RC</span><br />
<span class="medgenPMjournal">Hum Mutat</span>
2018 Sep;39(9):1226-1237.
Epub 2018 Jun 25
doi: 10.1002/humu.23563.
<span class="bold">PMID: </span><a href="/pubmed/29897170" target="_blank">29897170</a><a href="/pmc/articles/PMC6175110" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/25557259">PIK3CA-related overgrowth spectrum (PROS): diagnostic and testing eligibility criteria, differential diagnosis, and evaluation.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Keppler-Noreuil KM,
Rios JJ,
Parker VE,
Semple RK,
Lindhurst MJ,
Sapp JC,
Alomari A,
Ezaki M,
Dobyns W,
Biesecker LG</span><br />
<span class="medgenPMjournal">Am J Med Genet A</span>
2015 Feb;167A(2):287-95.
Epub 2014 Dec 31
doi: 10.1002/ajmg.a.36836.
<span class="bold">PMID: </span><a href="/pubmed/25557259" target="_blank">25557259</a><a href="/pmc/articles/PMC4480633" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/24998929">Disruptive CHD8 mutations define a subtype of autism early in development.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Bernier R,
Golzio C,
Xiong B,
Stessman HA,
Coe BP,
Penn O,
Witherspoon K,
Gerdts J,
Baker C,
Vulto-van Silfhout AT,
Schuurs-Hoeijmakers JH,
Fichera M,
Bosco P,
Buono S,
Alberti A,
Failla P,
Peeters H,
Steyaert J,
Vissers LELM,
Francescatto L,
Mefford HC,
Rosenfeld JA,
Bakken T,
O'Roak BJ,
Pawlus M,
Moon R,
Shendure J,
Amaral DG,
Lein E,
Rankin J,
Romano C,
de Vries BBA,
Katsanis N,
Eichler EE</span><br />
<span class="medgenPMjournal">Cell</span>
2014 Jul 17;158(2):263-276.
Epub 2014 Jul 3
doi: 10.1016/j.cell.2014.06.017.
<span class="bold">PMID: </span><a href="/pubmed/24998929" target="_blank">24998929</a><a href="/pmc/articles/PMC4136921" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/23160955">Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">O'Roak BJ,
Vives L,
Fu W,
Egertson JD,
Stanaway IB,
Phelps IG,
Carvill G,
Kumar A,
Lee C,
Ankenman K,
Munson J,
Hiatt JB,
Turner EH,
Levy R,
O'Day DR,
Krumm N,
Coe BP,
Martin BK,
Borenstein E,
Nickerson DA,
Mefford HC,
Doherty D,
Akey JM,
Bernier R,
Eichler EE,
Shendure J</span><br />
<span class="medgenPMjournal">Science</span>
2012 Dec 21;338(6114):1619-22.
Epub 2012 Nov 15
doi: 10.1126/science.1227764.
<span class="bold">PMID: </span><a href="/pubmed/23160955" target="_blank">23160955</a><a href="/pmc/articles/PMC3528801" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Megalencephaly%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 (210)</a></div><h3 class="subhead">Diagnosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/36113931">Imaging of Macrocephaly.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Neuberger I,
Stence NV,
Maloney JA,
White CJ,
Mirsky DM</span><br />
<span class="medgenPMjournal">Clin Perinatol</span>
2022 Sep;49(3):715-734.
doi: 10.1016/j.clp.2022.05.006.
<span class="bold">PMID: </span><a href="/pubmed/36113931" target="_blank">36113931</a></div>
<div class="nl"><a target="_blank" href="/pubmed/29897170">Further delineation of Malan syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Priolo M,
Schanze D,
Tatton-Brown K,
Mulder PA,
Tenorio J,
Kooblall K,
Acero IH,
Alkuraya FS,
Arias P,
Bernardini L,
Bijlsma EK,
Cole T,
Coubes C,
Dapia I,
Davies S,
Di Donato N,
Elcioglu NH,
Fahrner JA,
Foster A,
González NG,
Huber I,
Iascone M,
Kaiser AS,
Kamath A,
Liebelt J,
Lynch SA,
Maas SM,
Mammì C,
Mathijssen IB,
McKee S,
Menke LA,
Mirzaa GM,
Montgomery T,
Neubauer D,
Neumann TE,
Pintomalli L,
Pisanti MA,
Plomp AS,
Price S,
Salter C,
Santos-Simarro F,
Sarda P,
Segovia M,
Shaw-Smith C,
Smithson S,
Suri M,
Valdez RM,
Van Haeringen A,
Van Hagen JM,
Zollino M,
Lapunzina P,
Thakker RV,
Zenker M,
Hennekam RC</span><br />
<span class="medgenPMjournal">Hum Mutat</span>
2018 Sep;39(9):1226-1237.
Epub 2018 Jun 25
doi: 10.1002/humu.23563.
<span class="bold">PMID: </span><a href="/pubmed/29897170" target="_blank">29897170</a><a href="/pmc/articles/PMC6175110" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/25557259">PIK3CA-related overgrowth spectrum (PROS): diagnostic and testing eligibility criteria, differential diagnosis, and evaluation.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Keppler-Noreuil KM,
Rios JJ,
Parker VE,
Semple RK,
Lindhurst MJ,
Sapp JC,
Alomari A,
Ezaki M,
Dobyns W,
Biesecker LG</span><br />
<span class="medgenPMjournal">Am J Med Genet A</span>
2015 Feb;167A(2):287-95.
Epub 2014 Dec 31
doi: 10.1002/ajmg.a.36836.
<span class="bold">PMID: </span><a href="/pubmed/25557259" target="_blank">25557259</a><a href="/pmc/articles/PMC4480633" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/24998929">Disruptive CHD8 mutations define a subtype of autism early in development.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Bernier R,
Golzio C,
Xiong B,
Stessman HA,
Coe BP,
Penn O,
Witherspoon K,
Gerdts J,
Baker C,
Vulto-van Silfhout AT,
Schuurs-Hoeijmakers JH,
Fichera M,
Bosco P,
Buono S,
Alberti A,
Failla P,
Peeters H,
Steyaert J,
Vissers LELM,
Francescatto L,
Mefford HC,
Rosenfeld JA,
Bakken T,
O'Roak BJ,
Pawlus M,
Moon R,
Shendure J,
Amaral DG,
Lein E,
Rankin J,
Romano C,
de Vries BBA,
Katsanis N,
Eichler EE</span><br />
<span class="medgenPMjournal">Cell</span>
2014 Jul 17;158(2):263-276.
Epub 2014 Jul 3
doi: 10.1016/j.cell.2014.06.017.
<span class="bold">PMID: </span><a href="/pubmed/24998929" target="_blank">24998929</a><a href="/pmc/articles/PMC4136921" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/22422204">Leukoencephalopathies associated with macrocephaly.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Renaud DL</span><br />
<span class="medgenPMjournal">Semin Neurol</span>
2012 Feb;32(1):34-41.
Epub 2012 Mar 15
doi: 10.1055/s-0032-1306384.
<span class="bold">PMID: </span><a href="/pubmed/22422204" target="_blank">22422204</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Megalencephaly%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 (430)</a></div><h3 class="subhead">Therapy</h3>
<div class="nl"><a target="_blank" href="/pubmed/34477286">Expanding the phenotype: Four new cases and hope for treatment in Bachmann-Bupp syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">VanSickle EA,
Michael J,
Bachmann AS,
Rajasekaran S,
Prokop JW,
Kuzniecky R,
Hofstede FC,
Steindl K,
Rauch A,
Lipson MH,
Bupp CP</span><br />
<span class="medgenPMjournal">Am J Med Genet A</span>
2021 Nov;185(11):3485-3493.
Epub 2021 Sep 3
doi: 10.1002/ajmg.a.62473.
<span class="bold">PMID: </span><a href="/pubmed/34477286" target="_blank">34477286</a><a href="/pmc/articles/PMC9292803" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/33415748">Clinical and neuroimaging findings in 33 patients with MCAP syndrome: A survey to evaluate relevant endpoints for future clinical trials.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Garde A,
Guibaud L,
Goldenberg A,
Petit F,
Dard R,
Roume J,
Mazereeuw-Hautier J,
Chassaing N,
Lacombe D,
Morice-Picard F,
Toutain A,
Arpin S,
Boccara O,
Touraine R,
Blanchet P,
Coubes C,
Willems M,
Pinson L,
Van Kien PK,
Chiaverini C,
Giuliano F,
Alessandri JL,
Mathieu-Dramard M,
Morin G,
Bursztejn AC,
Mignot C,
Doummar D,
Di Rocco F,
Cornaton J,
Nicolas C,
Gautier E,
Luu M,
Bardou M,
Sorlin A,
Philippe C,
Edery P,
Rossi M,
Carmignac V,
Thauvin-Robinet C,
Vabres P,
Faivre L</span><br />
<span class="medgenPMjournal">Clin Genet</span>
2021 May;99(5):650-661.
Epub 2021 Jan 20
doi: 10.1111/cge.13918.
<span class="bold">PMID: </span><a href="/pubmed/33415748" target="_blank">33415748</a></div>
<div class="nl"><a target="_blank" href="/pubmed/33198587">Early Diagnosis and Treatment of an Infant with a Novel Thyroid Hormone Receptor α Gene (pC380SfsX9) Mutation.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Furman AE,
Dumitrescu AM,
Refetoff S,
Weiss RE</span><br />
<span class="medgenPMjournal">Thyroid</span>
2021 Jun;31(6):1003-1005.
Epub 2020 Dec 11
doi: 10.1089/thy.2020.0695.
<span class="bold">PMID: </span><a href="/pubmed/33198587" target="_blank">33198587</a><a href="/pmc/articles/PMC8215396" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/31571601">Remarkable recovery in an infant with brain abscesses.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Koko AM,
Ismail NJ,
Lasseini A,
Shehu BB</span><br />
<span class="medgenPMjournal">Lancet</span>
2019 Sep 28;394(10204):1191.
doi: 10.1016/S0140-6736(19)32137-3.
<span class="bold">PMID: </span><a href="/pubmed/31571601" target="_blank">31571601</a></div>
<div class="nl"><a target="_blank" href="/pubmed/22329570">Macrocephaly-capillary malformation presenting with fetal arrhythmia.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Kuint J,
Globus O,
Ben Simon GJ,
Greenberger S</span><br />
<span class="medgenPMjournal">Pediatr Dermatol</span>
2012 May-Jun;29(3):384-6.
Epub 2012 Feb 13
doi: 10.1111/j.1525-1470.2011.01677.x.
<span class="bold">PMID: </span><a href="/pubmed/22329570" target="_blank">22329570</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Megalencephaly%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 (35)</a></div><h3 class="subhead">Prognosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/37761804">Snijders Blok-Campeau Syndrome: Description of 20 Additional Individuals with Variants in CHD3 and Literature Review.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Pascual P,
Tenorio-Castano J,
Mignot C,
Afenjar A,
Arias P,
Gallego-Zazo N,
Parra A,
Miranda L,
Cazalla M,
Silván C,
Heron D,
Keren B,
Popa I,
Palomares M,
Rikeros E,
Ramos FJ,
Almoguera B,
Ayuso C,
Swafiri ST,
Barbero AIS,
Srinivasan VM,
Gowda VK,
Morleo M,
Nigro V,
D'Arrigo S,
Ciaccio C,
Martin Mesa C,
Paumard B,
Guillen G,
Anton ATS,
Jimenez MD,
Seidel V,
Suárez J,
Cormier-Daire V,
Consortium TS,
Nevado J,
Lapunzina P</span><br />
<span class="medgenPMjournal">Genes (Basel)</span>
2023 Aug 23;14(9)
doi: 10.3390/genes14091664.
<span class="bold">PMID: </span><a href="/pubmed/37761804" target="_blank">37761804</a><a href="/pmc/articles/PMC10530855" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/35180984">Imaging in the study of macrocephaly: Why?, when?, how?</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Schonstedt Geldres V,
Stecher Guzmán X,
Manterola Mordojovich C,
Rovira À</span><br />
<span class="medgenPMjournal">Radiologia (Engl Ed)</span>
2022 Jan-Feb;64(1):26-40.
doi: 10.1016/j.rxeng.2021.09.008.
<span class="bold">PMID: </span><a href="/pubmed/35180984" target="_blank">35180984</a></div>
<div class="nl"><a target="_blank" href="/pubmed/24449201">Newly described clinical features in two siblings with MACS syndrome and a novel mutation in RIN2.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Aslanger AD,
Altunoglu U,
Aslanger E,
Satkın BN,
Uyguner ZO,
Kayserili H</span><br />
<span class="medgenPMjournal">Am J Med Genet A</span>
2014 Feb;164A(2):484-9.
Epub 2013 Oct 29
doi: 10.1002/ajmg.a.36277.
<span class="bold">PMID: </span><a href="/pubmed/24449201" target="_blank">24449201</a></div>
<div class="nl"><a target="_blank" href="/pubmed/23622383">Leukodystrophies with astrocytic dysfunction.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Rodriguez D</span><br />
<span class="medgenPMjournal">Handb Clin Neurol</span>
2013;113:1619-28.
doi: 10.1016/B978-0-444-59565-2.00030-7.
<span class="bold">PMID: </span><a href="/pubmed/23622383" target="_blank">23622383</a></div>
<div class="nl"><a target="_blank" href="/pubmed/23160955">Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">O'Roak BJ,
Vives L,
Fu W,
Egertson JD,
Stanaway IB,
Phelps IG,
Carvill G,
Kumar A,
Lee C,
Ankenman K,
Munson J,
Hiatt JB,
Turner EH,
Levy R,
O'Day DR,
Krumm N,
Coe BP,
Martin BK,
Borenstein E,
Nickerson DA,
Mefford HC,
Doherty D,
Akey JM,
Bernier R,
Eichler EE,
Shendure J</span><br />
<span class="medgenPMjournal">Science</span>
2012 Dec 21;338(6114):1619-22.
Epub 2012 Nov 15
doi: 10.1126/science.1227764.
<span class="bold">PMID: </span><a href="/pubmed/23160955" target="_blank">23160955</a><a href="/pmc/articles/PMC3528801" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Megalencephaly%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 (129)</a></div><h3 class="subhead">Clinical prediction guides</h3>
<div class="nl"><a target="_blank" href="/pubmed/37761804">Snijders Blok-Campeau Syndrome: Description of 20 Additional Individuals with Variants in CHD3 and Literature Review.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Pascual P,
Tenorio-Castano J,
Mignot C,
Afenjar A,
Arias P,
Gallego-Zazo N,
Parra A,
Miranda L,
Cazalla M,
Silván C,
Heron D,
Keren B,
Popa I,
Palomares M,
Rikeros E,
Ramos FJ,
Almoguera B,
Ayuso C,
Swafiri ST,
Barbero AIS,
Srinivasan VM,
Gowda VK,
Morleo M,
Nigro V,
D'Arrigo S,
Ciaccio C,
Martin Mesa C,
Paumard B,
Guillen G,
Anton ATS,
Jimenez MD,
Seidel V,
Suárez J,
Cormier-Daire V,
Consortium TS,
Nevado J,
Lapunzina P</span><br />
<span class="medgenPMjournal">Genes (Basel)</span>
2023 Aug 23;14(9)
doi: 10.3390/genes14091664.
<span class="bold">PMID: </span><a href="/pubmed/37761804" target="_blank">37761804</a><a href="/pmc/articles/PMC10530855" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/35180984">Imaging in the study of macrocephaly: Why?, when?, how?</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Schonstedt Geldres V,
Stecher Guzmán X,
Manterola Mordojovich C,
Rovira À</span><br />
<span class="medgenPMjournal">Radiologia (Engl Ed)</span>
2022 Jan-Feb;64(1):26-40.
doi: 10.1016/j.rxeng.2021.09.008.
<span class="bold">PMID: </span><a href="/pubmed/35180984" target="_blank">35180984</a></div>
<div class="nl"><a target="_blank" href="/pubmed/31388190">The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype-phenotype correlations, and molecular basis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Weiss K,
Lazar HP,
Kurolap A,
Martinez AF,
Paperna T,
Cohen L,
Smeland MF,
Whalen S,
Heide S,
Keren B,
Terhal P,
Irving M,
Takaku M,
Roberts JD,
Petrovich RM,
Schrier Vergano SA,
Kenney A,
Hove H,
DeChene E,
Quinonez SC,
Colin E,
Ziegler A,
Rumple M,
Jain M,
Monteil D,
Roeder ER,
Nugent K,
van Haeringen A,
Gambello M,
Santani A,
Medne L,
Krock B,
Skraban CM,
Zackai EH,
Dubbs HA,
Smol T,
Ghoumid J,
Parker MJ,
Wright M,
Turnpenny P,
Clayton-Smith J,
Metcalfe K,
Kurumizaka H,
Gelb BD,
Baris Feldman H,
Campeau PM,
Muenke M,
Wade PA,
Lachlan K</span><br />
<span class="medgenPMjournal">Genet Med</span>
2020 Feb;22(2):389-397.
Epub 2019 Aug 7
doi: 10.1038/s41436-019-0612-0.
<span class="bold">PMID: </span><a href="/pubmed/31388190" target="_blank">31388190</a><a href="/pmc/articles/PMC8900827" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/23160955">Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">O'Roak BJ,
Vives L,
Fu W,
Egertson JD,
Stanaway IB,
Phelps IG,
Carvill G,
Kumar A,
Lee C,
Ankenman K,
Munson J,
Hiatt JB,
Turner EH,
Levy R,
O'Day DR,
Krumm N,
Coe BP,
Martin BK,
Borenstein E,
Nickerson DA,
Mefford HC,
Doherty D,
Akey JM,
Bernier R,
Eichler EE,
Shendure J</span><br />
<span class="medgenPMjournal">Science</span>
2012 Dec 21;338(6114):1619-22.
Epub 2012 Nov 15
doi: 10.1126/science.1227764.
<span class="bold">PMID: </span><a href="/pubmed/23160955" target="_blank">23160955</a><a href="/pmc/articles/PMC3528801" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/22729224">De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Rivière JB,
Mirzaa GM,
O'Roak BJ,
Beddaoui M,
Alcantara D,
Conway RL,
St-Onge J,
Schwartzentruber JA,
Gripp KW,
Nikkel SM,
Worthylake T,
Sullivan CT,
Ward TR,
Butler HE,
Kramer NA,
Albrecht B,
Armour CM,
Armstrong L,
Caluseriu O,
Cytrynbaum C,
Drolet BA,
Innes AM,
Lauzon JL,
Lin AE,
Mancini GM,
Meschino WS,
Reggin JD,
Saggar AK,
Lerman-Sagie T,
Uyanik G,
Weksberg R,
Zirn B,
Beaulieu CL;
Finding of Rare Disease Genes (FORGE) Canada Consortium,
Majewski J,
Bulman DE,
O'Driscoll M,
Shendure J,
Graham JM Jr,
Boycott KM,
Dobyns WB</span><br />
<span class="medgenPMjournal">Nat Genet</span>
2012 Jun 24;44(8):934-40.
doi: 10.1038/ng.2331.
<span class="bold">PMID: </span><a href="/pubmed/22729224" target="_blank">22729224</a><a href="/pmc/articles/PMC3408813" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Megalencephaly%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 (167)</a></div></div>
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<div class="portlet mgSection" id="ID_104">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln">
<div class="nl"><a target="_blank" href="/pubmed/38905711">Reduction cranioplasty for hydrocephalic macrocephaly: a systematic review of surgical outcomes.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Moura SP,
Center AD,
Kalluri M,
Blum J,
Shaffrey EC,
Lee S,
Ng JJ,
Iskandar BJ,
Garland CB,
Cho DY</span><br />
<span class="medgenPMjournal">J Neurosurg Pediatr</span>
2024 Sep 1;34(3):221-233.
Epub 2024 Jun 21
doi: 10.3171/2024.4.PEDS23486.
<span class="bold">PMID: </span><a href="/pubmed/38905711" target="_blank">38905711</a></div>
<div class="nl"><a target="_blank" href="/pubmed/36550402">NSD1 gene evolves under episodic selection within primates and mutations of specific exons in humans cause Sotos syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Romero VI,
Arias-Almeida B,
Aguiar SA</span><br />
<span class="medgenPMjournal">BMC Genomics</span>
2022 Dec 22;23(1):849.
doi: 10.1186/s12864-022-09071-w.
<span class="bold">PMID: </span><a href="/pubmed/36550402" target="_blank">36550402</a><a href="/pmc/articles/PMC9783842" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/29470161">The Child With Macrocephaly: Differential Diagnosis and Neuroimaging Findings.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Orrù E,
Calloni SF,
Tekes A,
Huisman TAGM,
Soares BP</span><br />
<span class="medgenPMjournal">AJR Am J Roentgenol</span>
2018 Apr;210(4):848-859.
Epub 2018 Feb 22
doi: 10.2214/AJR.17.18693.
<span class="bold">PMID: </span><a href="/pubmed/29470161" target="_blank">29470161</a></div>
<div class="nl"><a target="_blank" href="/pubmed/20425820">High incidence of progressive postnatal cerebellar enlargement in Costello syndrome: brain overgrowth associated with HRAS mutations as the likely cause of structural brain and spinal cord abnormalities.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Gripp KW,
Hopkins E,
Doyle D,
Dobyns WB</span><br />
<span class="medgenPMjournal">Am J Med Genet A</span>
2010 May;152A(5):1161-8.
doi: 10.1002/ajmg.a.33391.
<span class="bold">PMID: </span><a href="/pubmed/20425820" target="_blank">20425820</a><a href="/pmc/articles/PMC4910816" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Megalencephaly%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 (4)</a></div></div>
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<div class="portlet_content ln"><ul><li><a href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=2477" target="_blank">Orphanet</a></li><li><a href="https://clinicaltrials.gov/search?cond=Megalencephaly" target="_blank">ClinicalTrials.gov</a></li></ul></div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Practice_guidelines">Practice guidelines</h1><a sid="121" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22megalencephaly%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><li><a target="_blank" href="/books/?term=((%22clinical%20guidelines%22%5BResource%20Type%5D)%20OR%20%22practice%20guideline%22%5BPublication%20Type%5D)%20AND%20(%22Megalencephaly%22)">Bookshelf</a><div class="help-popup">See practice and clinical guidelines in NCBI Bookshelf. 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&amp;query=Megalencephaly" target="_blank">MedlinePlus</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/16601/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</a></li></ul></div>
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<h3>Reviews</h3>
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<a href="/pubmed?term=Megalencephaly%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&amp;discoId=gtr_reviews&amp;linkpos=2&amp;linkpostotal=2" target="_blank">Reviews in PubMed</a>
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