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<meta name="keywords" content="C0220658, acrocephalosyndactylia type v, acrocephalosyndactylies, type v, acrocephalosyndactyly type 5, acrocephalosyndactyly type v, acrocephalosyndactyly, type 5, acrocephalosyndactyly, type v, acs 5, acs v, acs5, craniofacial-skeletal-dermatologic dysplasia, disease or syndrome, fgfr1, fgfr1-related craniosynostosis, fgfr2, noack syndrome, noack syndromes, pfeiffer syndrome, pfeiffer type acrocephalosyndactyly, pfeiffer-type acrocephalosyndactyly, syndrome, noack, syndrome, pfeiffer, syndromes, noack, type v acrocephalosyndactylies, type v acrocephalosyndactyly, 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="Pfeiffer syndrome is an autosomal dominant craniosynostosis syndrome with characteristic anomalies of the hands and feet. Three clinical subtypes, which have important diagnostic and prognostic implications, have been identified. Type 1, the classic syndrome, is compatible with life and consists of craniosynostosis, midface deficiency, broad thumbs, broad great toes, brachydactyly, and variable syndactyly. Type 2 consists of cloverleaf skull with Pfeiffer hands and feet, together with ankylosis of the elbows. Type 3 is similar to type 2 but without cloverleaf skull. Ocular proptosis is severe, and the anterior cranial base is markedly short. Various visceral malformations have been found in association with type 3. Early demise is characteristic of types 2 and 3 (Cohen, 1993). Cohen and Barone (1994) further tabulated the findings in the 3 types of Pfeiffer syndrome." /><meta name="robots" content="index,nofollow,noarchive" />
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<title>Pfeiffer syndrome (Concept Id: C0220658)
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<!--
UID=67390
ConceptID=C0220658
-->
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Pfeiffer syndrome<span class="h1sub">(ACS5)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>67390</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.">C0220658</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
<td>Acrocephalosyndactyly, type 5; ACS V; ACS5; FGFR1-Related Craniosynostosis; Pfeiffer type acrocephalosyndactyly</td></tr>
<tr><td><span class="bold">SNOMED CT: </span></td>
<td>Pfeiffer syndrome (70410008); Pfeiffer-type acrocephalosyndactyly (70410008); Acrocephalosyndactyly type V (70410008); Acrocephalosyndactyly type 5 (70410008)</td></tr>
<tr><td>Modes of inheritance:</td>
<td>
<div class="divPopper rprt" id="moi_141047"><div><strong>Autosomal dominant inheritance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>141047</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.">C0443147</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Intellectual Product</dd></dl></div></div></div>
<div class="spaceAbove">Source: Orphanet</div>
<div class="spaceAbove">A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.</div></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_141047" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal dominant inheritance</a><span> (Orphanet)</span></div></td></tr>
<tr><td colspan="2" class="small"> </td></tr><tr><td><a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#target-gene-loc">Genes (locations):<img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div class="display-none" id="target-gene-loc">
Gene(s) directly associated with<br />
this condition or phenotype.</div></td>
<td><a target="_blank" title="FGFR1 - ID: 2260 - NCBI Gene" href="/gene/2260" class="medgenPMinfo">FGFR1</a> (8p11.23); <a target="_blank" title="FGFR2 - ID: 2263 - NCBI Gene" href="/gene/2263" class="medgenPMinfo">FGFR2</a> (10q26.13)</td></tr>
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
<td><a href="https://monarchinitiative.org/disease/MONDO:0007043" target="_blank">MONDO:0007043</a></td></tr>
<tr><td>OMIM<span class="superscript">®</span>:</td>
<td><a href="https://omim.org/entry/101600" target="_blank">101600</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=710">ORPHA710</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">Pfeiffer syndrome is an autosomal dominant craniosynostosis syndrome with characteristic anomalies of the hands and feet. Three clinical subtypes, which have important diagnostic and prognostic implications, have been identified. Type 1, the classic syndrome, is compatible with life and consists of craniosynostosis, midface deficiency, broad thumbs, broad great toes, brachydactyly, and variable syndactyly. Type 2 consists of cloverleaf skull with Pfeiffer hands and feet, together with ankylosis of the elbows. Type 3 is similar to type 2 but without cloverleaf skull. Ocular proptosis is severe, and the anterior cranial base is markedly short. Various visceral malformations have been found in association with type 3. Early demise is characteristic of types 2 and 3 (Cohen, 1993). Cohen and Barone (1994) further tabulated the findings in the 3 types of Pfeiffer syndrome. [from <a title="Online Mendelian Inheritance in Man" href="http://www.omim.org" class="defSource" target="_blank">OMIM</a>]</div>
</div>
<div class="portlet mgSection" id="ID_117">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Additional_description">Additional description</h1><a sid="117" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln"><div class="mgSection"><strong>From MedlinePlus Genetics</strong><br />Pfeiffer syndrome is a genetic disorder characterized by the premature fusion of certain skull bones (craniosynostosis). This early fusion prevents the skull from growing normally and affects the shape of the head and face. Pfeiffer syndrome also affects bones in the hands and feet.<br /><br />Many of the characteristic facial features of Pfeiffer syndrome result from premature fusion of the skull bones. Abnormal growth of these bones leads to bulging and wide-set eyes, a high forehead, an underdeveloped upper jaw, and a beaked nose. More than half of all children with Pfeiffer syndrome have hearing loss; dental problems are also common.<br /><br />In people with Pfeiffer syndrome, the thumbs and first (big) toes are wide and bend away from the other digits. Unusually short fingers and toes (brachydactyly) are also common, and there may be some webbing or fusion between the digits (syndactyly).<br /><br />Pfeiffer syndrome is divided into three subtypes. Type 1, also known as classic Pfeiffer syndrome, has symptoms as described above. Most individuals with type 1 Pfeiffer syndrome have normal intelligence and a normal life span. Types 2 and 3 are more severe forms of Pfeiffer syndrome that often involve problems with the nervous system. The premature fusion of skull bones can limit brain growth, leading to delayed development and other neurological problems. In addition, individuals with type 2 or 3 can have fusion of the bones (ankylosis) in the elbow or other joints, limiting mobility, and abnormalities of the face and airways, which can cause life-threatening breathing problems. Type 2 is distinguished from type 3 by the presence of a cloverleaf-shaped head, which is caused by more extensive fusion of bones in the skull.  <a target="_blank" href="https://medlineplus.gov/genetics/condition/pfeiffer-syndrome">https://medlineplus.gov/genetics/condition/pfeiffer-syndrome</a></div></div>
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<div class="portlet mgSection" id="ID_102">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_features">Clinical features</h1><a sid="102" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
<div class="divPopper rprt" id="clin_52619"><div><strong>Syndactyly</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>52619</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.">C0039075</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
<div class="spaceAbove">Webbing or fusion of the fingers or toes, involving soft parts only or including bone structure. Bony fusions are referred to as "bony" syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the fingers or toes in a proximo-distal axis are referred to as "symphalangism".</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/52619">Feature record</a> | <a href="/medgen?term=%22Syndactyly%22%5BClinical%20Features%5D%20OR%2052619%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_65139"><div><strong>Finger syndactyly</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>65139</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.">C0221352</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
<div class="spaceAbove">Webbing or fusion of the fingers, involving soft parts only or including bone structure. Bony fusions are referred to as "bony" Syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the fingers in a proximo-distal axis are referred to as "Symphalangism".</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/65139">Feature record</a> | <a href="/medgen?term=%22Finger%20syndactyly%22%5BClinical%20Features%5D%20OR%2065139%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_140880"><div><strong>Broad thumb</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>140880</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.">C0426891</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Increased thumb width without increased dorso-ventral dimension.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/140880">Feature record</a> | <a href="/medgen?term=%22Broad%20thumb%22%5BClinical%20Features%5D%20OR%20140880%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_347331"><div><strong>Shortening of all middle phalanges of the fingers</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>347331</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.">C1856912</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Short, hypoplastic middle phalanx of finger, affecting all fingers.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/347331">Feature record</a> | <a href="/medgen?term=%22Shortening%20of%20all%20middle%20phalanges%20of%20the%20fingers%22%5BClinical%20Features%5D%20OR%20347331%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_401165"><div><strong>Broad hallux</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>401165</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.">C1867131</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Visible increase in width of the hallux without an increase in the dorso-ventral dimension.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/401165">Feature record</a> | <a href="/medgen?term=%22Broad%20hallux%22%5BClinical%20Features%5D%20OR%20401165%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_418931"><div><strong>Humeroradial synostosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>418931</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.">C2930865</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">An abnormal osseous union (fusion) between the radius and the humerus.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/418931">Feature record</a> | <a href="/medgen?term=%22Humeroradial%20synostosis%22%5BClinical%20Features%5D%20OR%20418931%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_867359"><div><strong>Short middle phalanx of toe</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>867359</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.">C4021723</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
<div class="spaceAbove">Developmental hypoplasia (shortening) of middle phalanx of toe.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/867359">Feature record</a> | <a href="/medgen?term=%22Short%20middle%20phalanx%20of%20toe%22%5BClinical%20Features%5D%20OR%20867359%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_1863540"><div><strong>3-4 toe cutaneous syndactyly</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1863540</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.">C5937396</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
<div class="spaceAbove">A soft tissue continuity in the anteroposterior axis between the toes 3 and 4.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1863540">Feature record</a> | <a href="/medgen?term=%223-4%20toe%20cutaneous%20syndactyly%22%5BClinical%20Features%5D%20OR%201863540%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_2065"><div><strong>Chiari malformation</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>2065</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.">C0003803</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
<div class="spaceAbove">Chiari malformation consists of a downward displacement of the cerebellar tonsils and the medulla through the foramen magnum, sometimes causing hydrocephalus as a result of obstruction of CSF outflow.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/2065">Feature record</a> | <a href="/medgen?term=%22Chiari%20malformation%22%5BClinical%20Features%5D%20OR%202065%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_9335"><div><strong>Hydrocephalus</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>9335</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.">C0020255</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Hydrocephalus is an active distension of the ventricular system of the brain resulting from inadequate passage of CSF from its point of production within the cerebral ventricles to its point of absorption into the systemic circulation.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/9335">Feature record</a> | <a href="/medgen?term=%22Hydrocephalus%22%5BClinical%20Features%5D%20OR%209335%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_811461"><div><strong>Intellectual disability</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>811461</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.">C3714756</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
<div class="spaceAbove">Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/811461">Feature record</a> | <a href="/medgen?term=%22Intellectual%20disability%22%5BClinical%20Features%5D%20OR%20811461%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_66804"><div><strong>Hypoplasia of the maxilla</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>66804</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.">C0240310</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
<div class="spaceAbove">Abnormally small dimension of the Maxilla. Usually creating a malocclusion or malalignment between the upper and lower teeth or resulting in a deficient amount of projection of the base of the nose and lower midface region.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/66804">Feature record</a> | <a href="/medgen?term=%22Hypoplasia%20of%20the%20maxilla%22%5BClinical%20Features%5D%20OR%2066804%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_592439"><div><strong>Elbow ankylosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>592439</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.">C0409477</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/592439">Feature record</a> | <a href="/medgen?term=%22Elbow%20ankylosis%22%5BClinical%20Features%5D%20OR%20592439%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_344694"><div><strong>Coronal craniosynostosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>344694</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.">C1856266</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
<div class="spaceAbove">Premature closure of the coronal suture of skull.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/344694">Feature record</a> | <a href="/medgen?term=%22Coronal%20craniosynostosis%22%5BClinical%20Features%5D%20OR%20344694%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_387833"><div><strong>Brachyturricephaly</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>387833</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.">C1857484</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Abnormal vertical height of the skull and a shortening of its anterior-posterior length, frequently combined with malformations of the occipital region.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/387833">Feature record</a> | <a href="/medgen?term=%22Brachyturricephaly%22%5BClinical%20Features%5D%20OR%20387833%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_348010"><div><strong>Cloverleaf skull</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>348010</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.">C1860050</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
<div class="spaceAbove">Trilobar skull configuration when viewed from the front or behind.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/348010">Feature record</a> | <a href="/medgen?term=%22Cloverleaf%20skull%22%5BClinical%20Features%5D%20OR%20348010%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_351328"><div><strong>Shallow orbits</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>351328</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.">C1865244</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Reduced depth of the orbits associated with prominent-appearing ocular globes.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/351328">Feature record</a> | <a href="/medgen?term=%22Shallow%20orbits%22%5BClinical%20Features%5D%20OR%20351328%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_82679"><div><strong>Bronchomalacia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>82679</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.">C0264353</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Weakness or softness of the cartilage in the walls of the bronchial tubes.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/82679">Feature record</a> | <a href="/medgen?term=%22Bronchomalacia%22%5BClinical%20Features%5D%20OR%2082679%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_1813071"><div><strong>Tracheal cartilaginous sleeve</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1813071</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.">C5676597</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
<div class="spaceAbove">Tracheal cartilaginous sleeve (TCS) is a rare congenital airway malformation in which distinct tracheal rings are replaced by a continuous cartilaginous segment. Vertically fused C- or O-shaped cartilaginous rings can extend from the subglottis to the carina or bronchus with little to no pars membranacea posteriorly. Comment:Tracheal cartilaginous sleeve has been associated with various craniosynostosis syndromes.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1813071">Feature record</a> | <a href="/medgen?term=%22Tracheal%20cartilaginous%20sleeve%22%5BClinical%20Features%5D%20OR%201813071%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_3395"><div><strong>Choanal atresia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>3395</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.">C0008297</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
<div class="spaceAbove">Absence or abnormal closure of the choana (the posterior nasal aperture). Most embryologists believe that posterior choanal atresia results from a failure of rupture between the 35th and 38th day of fetal life of the partition which separates the bucconasal or buccopharyngeal membranes. The resultant choanal atresia may be unilateral or bilateral, bony or membranous, complete or incomplete. In over 90 per cent of cases the obstruction is bony, while in the remainder it is membranous. The bony type of atresia is commonly located 1-2 mm. anterior to the posterior edge of the hard palate, and the osseous septum varies in thickness from 1 to 10 mm. In the membranous form of choanal atresia the obstruction usually occurs further posteriorly. In approximately one third of cases the atresia is bilateral.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/3395">Feature record</a> | <a href="/medgen?term=%22Choanal%20atresia%22%5BClinical%20Features%5D%20OR%203395%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_11850"><div><strong>Dental crowding</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>11850</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.">C0040433</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Changes in alignment of teeth in the dental arch</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/11850">Feature record</a> | <a href="/medgen?term=%22Dental%20crowding%22%5BClinical%20Features%5D%20OR%2011850%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_66814"><div><strong>High palate</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>66814</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.">C0240635</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
<div class="spaceAbove">Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/66814">Feature record</a> | <a href="/medgen?term=%22High%20palate%22%5BClinical%20Features%5D%20OR%2066814%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_98316"><div><strong>Mandibular prognathia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>98316</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.">C0399526</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Abnormal prominence of the chin related to increased length of the mandible.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/98316">Feature record</a> | <a href="/medgen?term=%22Mandibular%20prognathia%22%5BClinical%20Features%5D%20OR%2098316%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_98391"><div><strong>Downslanted palpebral fissures</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>98391</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.">C0423110</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">The palpebral fissure inclination is more than two standard deviations below the mean.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/98391">Feature record</a> | <a href="/medgen?term=%22Downslanted%20palpebral%20fissures%22%5BClinical%20Features%5D%20OR%2098391%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_108427"><div><strong>Choanal stenosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>108427</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.">C0584837</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Abnormal narrowing of the choana (the posterior nasal aperture).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/108427">Feature record</a> | <a href="/medgen?term=%22Choanal%20stenosis%22%5BClinical%20Features%5D%20OR%20108427%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_373112"><div><strong>Depressed nasal bridge</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>373112</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.">C1836542</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Posterior positioning of the nasal root in relation to the overall facial profile for age.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/373112">Feature record</a> | <a href="/medgen?term=%22Depressed%20nasal%20bridge%22%5BClinical%20Features%5D%20OR%20373112%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_343052"><div><strong>Short nose</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>343052</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.">C1854114</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Distance from nasion to subnasale more than two standard deviations below the mean, or alternatively, an apparently decreased length from the nasal root to the nasal tip.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/343052">Feature record</a> | <a href="/medgen?term=%22Short%20nose%22%5BClinical%20Features%5D%20OR%20343052%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_9373"><div><strong>Hypertelorism</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>9373</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.">C0020534</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Although hypertelorism means an excessive distance between any paired organs (e.g., the nipples), the use of the word has come to be confined to ocular hypertelorism. Hypertelorism occurs as an isolated feature and is also a feature of many syndromes, e.g., Opitz G syndrome (see 300000), Greig cephalopolysyndactyly (175700), and Noonan syndrome (163950) (summary by Cohen et al., 1995).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/9373">Feature record</a> | <a href="/medgen?term=%22Hypertelorism%22%5BClinical%20Features%5D%20OR%209373%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_21337"><div><strong>Strabismus</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>21337</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.">C0038379</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/21337">Feature record</a> | <a href="/medgen?term=%22Strabismus%22%5BClinical%20Features%5D%20OR%2021337%5Buid%5D">Search on this feature</a></div></div><div class="TreeLite" data-jigconfig="closed: 1"><div class="concept-def"><a class="small" href="#" onclick="jQuery(&quot;.TreeLite&quot;,&quot;#ID_102&quot;).TreeLite().openAll(); return false;">Show all</a><a class="small" href="#" onclick="jQuery(&quot;.TreeLite&quot;,&quot;#ID_102&quot;).TreeLite().closeAll(); return false;">Hide all</a></div><ul><li><span class="TLline">Abnormality of head or neck</span><ul><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_3395" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Choanal atresia</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_108427" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Choanal stenosis</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_11850" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Dental crowding</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_373112" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Depressed nasal bridge</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_98391" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Downslanted palpebral fissures</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_66814" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">High palate</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_98316" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mandibular prognathia</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_343052" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Short nose</a></span></li></ul></li><li><span class="TLline">Abnormality of limbs</span><ul><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1863540" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">3-4 toe cutaneous syndactyly</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_401165" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Broad hallux</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_140880" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Broad thumb</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_65139" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Finger syndactyly</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_418931" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Humeroradial synostosis</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_867359" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Short middle phalanx of toe</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_347331" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Shortening of all middle phalanges of the fingers</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_52619" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Syndactyly</a></span></li></ul></li><li><span class="TLline">Abnormality of the eye</span><ul><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_9373" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypertelorism</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_21337" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Strabismus</a></span></li></ul></li><li><span class="TLline">Abnormality of the musculoskeletal system</span><ul><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_387833" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Brachyturricephaly</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_348010" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cloverleaf skull</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_344694" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Coronal craniosynostosis</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_592439" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Elbow ankylosis</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_66804" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypoplasia of the maxilla</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_351328" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Shallow orbits</a></span></li></ul></li><li><span class="TLline">Abnormality of the nervous system</span><ul><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_2065" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Chiari malformation</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_9335" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hydrocephalus</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_811461" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Intellectual disability</a></span></li></ul></li><li><span class="TLline">Abnormality of the respiratory system</span><ul><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_82679" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Bronchomalacia</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1813071" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Tracheal cartilaginous sleeve</a></span></li></ul></li></ul></div></div>
</div>
<div class="portlet mgSection" id="ID_118">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test,  </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test,  </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM,  </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>,  </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar  </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=CN231480[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=850742">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1455/" ref="ncbi_uid=850742">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&amp;from_uid=850742" ref="ncbi_uid=850742">V</a></span></span><span class="TLline"><a href="/medgen/850742" ref="tree=GTR&amp;ncbi_uid=850742&amp;link_uid=850742" title="View MedGen record for 'FGFR2-related craniosynostosis'">FGFR2-related craniosynostosis</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0001193[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=7858">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=7858" target="_blank" href="/omim/101200">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/?term=(NBK1455%20OR%20NBK541728)%20AND%20gene%5Bbook%5D&amp;showtype=onebook" ref="ncbi_uid=7858">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&amp;from_uid=7858" ref="ncbi_uid=7858">V</a></span></span><span class="TLline"><a href="/medgen/7858" ref="tree=GTR&amp;ncbi_uid=7858&amp;link_uid=7858" title="View MedGen record for 'Acrocephalosyndactyly type I'">Acrocephalosyndactyly type I</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1852406[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=377668">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=377668" target="_blank" href="/omim/123790">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1455/" ref="ncbi_uid=377668">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&amp;from_uid=377668" ref="ncbi_uid=377668">V</a></span></span><span class="TLline"><a href="/medgen/377668" ref="tree=GTR&amp;ncbi_uid=377668&amp;link_uid=377668" title="View MedGen record for 'Beare-Stevenson cutis gyrata syndrome'">Beare-Stevenson cutis gyrata syndrome</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0010273[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=1162">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1455/" ref="ncbi_uid=1162">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&amp;from_uid=1162" ref="ncbi_uid=1162">V</a></span></span><span class="TLline"><a href="/medgen/1162" ref="tree=GTR&amp;ncbi_uid=1162&amp;link_uid=1162" title="View MedGen record for 'Crouzon syndrome'">Crouzon syndrome</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0795998[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=208653">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=208653" target="_blank" href="/omim/123150">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1455/" ref="ncbi_uid=208653">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&amp;from_uid=208653" ref="ncbi_uid=208653">V</a></span></span><span class="TLline"><a href="/medgen/208653" ref="tree=GTR&amp;ncbi_uid=208653&amp;link_uid=208653" title="View MedGen record for 'Jackson-Weiss syndrome'">Jackson-Weiss syndrome</a></span></li><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0220658[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=67390">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=67390" target="_blank" href="/omim/101600">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1455/" ref="ncbi_uid=67390">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&amp;from_uid=67390" ref="ncbi_uid=67390">V</a></span></span><span class="TLline">Pfeiffer syndrome</span></li></ul></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/867443" ref="tree=MeSH" title="MedGen record for Phenotypic abnormality">Phenotypic abnormality</a></span><ul><li><span class="TLline"><a href="/medgen/871309" ref="tree=MeSH" title="MedGen record for Abnormality of prenatal development or birth">Abnormality of prenatal development or birth</a></span><ul><li><span class="TLline"><a href="/medgen/1254" ref="tree=MeSH" title="MedGen record for Fetal anomaly">Fetal anomaly</a></span><ul><li><span class="TLline"><a href="/medgen/474891" ref="tree=MeSH" title="MedGen record for Congenital Systemic Disorder">Congenital Systemic Disorder</a></span><ul><li><span class="TLline"><a href="/medgen/267602" ref="tree=MeSH" title="MedGen record for Acrocephalosyndactyly">Acrocephalosyndactyly</a></span><ul><li><span class="matched_ds">Pfeiffer syndrome</span><ul><li><span class="TLline"><a href="/medgen/1726699" ref="tree=MeSH" title="MedGen record for Pfeiffer syndrome type 1">Pfeiffer syndrome type 1</a></span></li><li><span class="TLline"><a href="/medgen/1761826" ref="tree=MeSH" title="MedGen record for Pfeiffer syndrome type 2">Pfeiffer syndrome type 2</a></span></li><li><span class="TLline"><a href="/medgen/1748161" ref="tree=MeSH" title="MedGen record for Pfeiffer syndrome type 3">Pfeiffer syndrome type 3</a></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_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/39187417">AI-based diagnosis and phenotype - Genotype correlations in syndromic craniosynostoses.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Hennocq Q,
Paternoster G,
Collet C,
Amiel J,
Bongibault T,
Bouygues T,
Cormier-Daire V,
Douillet M,
Dunaway DJ,
Jeelani NO,
van de Lande LS,
Lyonnet S,
Ong J,
Picard A,
Rickart AJ,
Rio M,
Schievano S,
Arnaud E,
Garcelon N,
Khonsari RH</span><br />
<span class="medgenPMjournal">J Craniomaxillofac Surg</span>
2024 Oct;52(10):1172-1187.
Epub 2024 Feb 5
doi: 10.1016/j.jcms.2024.02.010.
<span class="bold">PMID: </span><a href="/pubmed/39187417" target="_blank">39187417</a></div>
<div class="nl"><a target="_blank" href="/pubmed/37477198">The Role of Airway Management on Feeding Difficulties in Children With Pfeiffer Syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Salem J,
Blumenow W,
Markey A,
Hogg ES,
McCann E,
Yassaie E,
Hennedige A,
De S,
Sharma SD</span><br />
<span class="medgenPMjournal">J Craniofac Surg</span>
2023 Oct 1;34(7):1985-1988.
Epub 2023 Jul 21
doi: 10.1097/SCS.0000000000009541.
<span class="bold">PMID: </span><a href="/pubmed/37477198" target="_blank">37477198</a></div>
<div class="nl"><a target="_blank" href="/pubmed/29392564">Craniosynostosis as a clinical and diagnostic problem: molecular pathology and genetic counseling.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Kutkowska-Kaźmierczak A,
Gos M,
Obersztyn E</span><br />
<span class="medgenPMjournal">J Appl Genet</span>
2018 May;59(2):133-147.
Epub 2018 Feb 1
doi: 10.1007/s13353-017-0423-4.
<span class="bold">PMID: </span><a href="/pubmed/29392564" target="_blank">29392564</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22pfeiffer%20syndrome%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 (16)</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/35171849">Orbital and Periorbital Dysmorphology in Untreated Pfeiffer Syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Lu X,
Forte AJ,
Allam O,
Park KE,
Wilson A,
Alperovich M,
Steinbacher DM,
Tonello C,
Alonso N,
Persing JA</span><br />
<span class="medgenPMjournal">Plast Reconstr Surg</span>
2022 Apr 1;149(4):731e-742e.
doi: 10.1097/PRS.0000000000008928.
<span class="bold">PMID: </span><a href="/pubmed/35171849" target="_blank">35171849</a></div>
<div class="nl"><a target="_blank" href="/pubmed/34905527">Case Report: Anisometropic Astigmatism Secondary to Unilateral Coronal Synostosis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Qayum JV</span><br />
<span class="medgenPMjournal">Optom Vis Sci</span>
2021 Dec 1;98(12):1400-1402.
doi: 10.1097/OPX.0000000000001816.
<span class="bold">PMID: </span><a href="/pubmed/34905527" target="_blank">34905527</a></div>
<div class="nl"><a target="_blank" href="/pubmed/33795400">Craniosynostosis: Neonatal Perspectives.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Bautista G</span><br />
<span class="medgenPMjournal">Neoreviews</span>
2021 Apr;22(4):e250-e257.
doi: 10.1542/neo.22-4-e250.
<span class="bold">PMID: </span><a href="/pubmed/33795400" target="_blank">33795400</a></div>
<div class="nl"><a target="_blank" href="/pubmed/26463472">Appropriate indication of fronto-orbital advancement by distraction osteogenesis in syndromic craniosynostosis: Beyond the conventional technique.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Satoh K,
Mitsukawa N,
Kubota Y,
Akita S</span><br />
<span class="medgenPMjournal">J Craniomaxillofac Surg</span>
2015 Dec;43(10):2079-84.
Epub 2015 Sep 15
doi: 10.1016/j.jcms.2015.07.031.
<span class="bold">PMID: </span><a href="/pubmed/26463472" target="_blank">26463472</a></div>
<div class="nl"><a target="_blank" href="/pubmed/25350344">Progressive Postnatal Pansynostosis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Rogers GF,
Greene AK,
Proctor MR,
Mulliken JB,
Goobie SM,
Stoler JM</span><br />
<span class="medgenPMjournal">Cleft Palate Craniofac J</span>
2015 Nov;52(6):751-7.
Epub 2014 Oct 28
doi: 10.1597/14-092.
<span class="bold">PMID: </span><a href="/pubmed/25350344" target="_blank">25350344</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Pfeiffer%20syndrome%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 (110)</a></div><h3 class="subhead">Diagnosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/28845899">Pfeiffer syndrome: oral healthcare management and description of new dental findings in a craniosynostosis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Hassona Y,
Al-Hadidi A,
Ghlassi TA,
Dali HE,
Scully C</span><br />
<span class="medgenPMjournal">Spec Care Dentist</span>
2017 Sep;37(5):258-262.
Epub 2017 Aug 28
doi: 10.1111/scd.12236.
<span class="bold">PMID: </span><a href="/pubmed/28845899" target="_blank">28845899</a></div>
<div class="nl"><a target="_blank" href="/pubmed/27712819">Syndromic Craniosynostosis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Wang JC,
Nagy L,
Demke JC</span><br />
<span class="medgenPMjournal">Facial Plast Surg Clin North Am</span>
2016 Nov;24(4):531-543.
doi: 10.1016/j.fsc.2016.06.008.
<span class="bold">PMID: </span><a href="/pubmed/27712819" target="_blank">27712819</a></div>
<div class="nl"><a target="_blank" href="/pubmed/25350344">Progressive Postnatal Pansynostosis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Rogers GF,
Greene AK,
Proctor MR,
Mulliken JB,
Goobie SM,
Stoler JM</span><br />
<span class="medgenPMjournal">Cleft Palate Craniofac J</span>
2015 Nov;52(6):751-7.
Epub 2014 Oct 28
doi: 10.1597/14-092.
<span class="bold">PMID: </span><a href="/pubmed/25350344" target="_blank">25350344</a></div>
<div class="nl"><a target="_blank" href="/pubmed/16740155">Pfeiffer syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Vogels A,
Fryns JP</span><br />
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
2006 Jun 1;1:19.
doi: 10.1186/1750-1172-1-19.
<span class="bold">PMID: </span><a href="/pubmed/16740155" target="_blank">16740155</a><a href="/pmc/articles/PMC1482682" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/4641185">Familial acrocephalosyndactyly (Pfeiffer syndrome).</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Saldino RM,
Steinbach HL,
Epstein CJ</span><br />
<span class="medgenPMjournal">Am J Roentgenol Radium Ther Nucl Med</span>
1972 Nov;116(3):609-22.
doi: 10.2214/ajr.116.3.609.
<span class="bold">PMID: </span><a href="/pubmed/4641185" target="_blank">4641185</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Pfeiffer%20syndrome%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 (132)</a></div><h3 class="subhead">Therapy</h3>
<div class="nl"><a target="_blank" href="/pubmed/34623012">Perioperative airway complications in infants and children with Crouzon and Pfeiffer syndromes: A single-center experience.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Venkat Raman V,
de Beer D</span><br />
<span class="medgenPMjournal">Paediatr Anaesth</span>
2021 Dec;31(12):1316-1324.
Epub 2021 Oct 21
doi: 10.1111/pan.14310.
<span class="bold">PMID: </span><a href="/pubmed/34623012" target="_blank">34623012</a></div>
<div class="nl"><a target="_blank" href="/pubmed/33866411">Syndrome-related outcomes following posterior vault distraction osteogenesis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Raposo-Amaral CE,
de Oliveira YM,
Denadai R,
Raposo-Amaral CA,
Ghizoni E</span><br />
<span class="medgenPMjournal">Childs Nerv Syst</span>
2021 Jun;37(6):2001-2009.
Epub 2021 Apr 18
doi: 10.1007/s00381-021-05169-w.
<span class="bold">PMID: </span><a href="/pubmed/33866411" target="_blank">33866411</a></div>
<div class="nl"><a target="_blank" href="/pubmed/33829280">Craniosynostosis and hydrocephalus: relevance and treatment modalities.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Frassanito P,
Palombi D,
Tamburrini G</span><br />
<span class="medgenPMjournal">Childs Nerv Syst</span>
2021 Nov;37(11):3465-3473.
Epub 2021 Apr 7
doi: 10.1007/s00381-021-05158-z.
<span class="bold">PMID: </span><a href="/pubmed/33829280" target="_blank">33829280</a></div>
<div class="nl"><a target="_blank" href="/pubmed/25569391">Complications in 54 frontofacial distraction procedures in patients with syndromic craniosynostosis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Goldstein JA,
Paliga JT,
Taylor JA,
Bartlett SP</span><br />
<span class="medgenPMjournal">J Craniofac Surg</span>
2015 Jan;26(1):124-8.
doi: 10.1097/SCS.0000000000001320.
<span class="bold">PMID: </span><a href="/pubmed/25569391" target="_blank">25569391</a></div>
<div class="nl"><a target="_blank" href="/pubmed/10394936">Analysis of the mutational spectrum of the FGFR2 gene in Pfeiffer syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Cornejo-Roldan LR,
Roessler E,
Muenke M</span><br />
<span class="medgenPMjournal">Hum Genet</span>
1999 May;104(5):425-31.
doi: 10.1007/s004390050979.
<span class="bold">PMID: </span><a href="/pubmed/10394936" target="_blank">10394936</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Pfeiffer%20syndrome%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 (18)</a></div><h3 class="subhead">Prognosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/33863588">Nasopharyngeal airway and subcranial space analysis in Pfeiffer syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Lu X,
Forte AJ,
Allam O,
Park KE,
Junn A,
Alperovich M,
Steinbacher DM,
Tonello C,
Alonso N,
Persing JA</span><br />
<span class="medgenPMjournal">Br J Oral Maxillofac Surg</span>
2021 Jun;59(5):592-598.
Epub 2020 Dec 15
doi: 10.1016/j.bjoms.2020.10.008.
<span class="bold">PMID: </span><a href="/pubmed/33863588" target="_blank">33863588</a></div>
<div class="nl"><a target="_blank" href="/pubmed/33083874">Nervous system involvement in Pfeiffer syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Mavridis IN,
Rodrigues D</span><br />
<span class="medgenPMjournal">Childs Nerv Syst</span>
2021 Feb;37(2):367-374.
Epub 2020 Oct 20
doi: 10.1007/s00381-020-04934-7.
<span class="bold">PMID: </span><a href="/pubmed/33083874" target="_blank">33083874</a></div>
<div class="nl"><a target="_blank" href="/pubmed/30132994">Prenatal sonographic findings and prognosis of craniosynostosis diagnosed during the fetal and neonatal periods.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Harada A,
Miyashita S,
Nagai R,
Makino S,
Murotsuki J</span><br />
<span class="medgenPMjournal">Congenit Anom (Kyoto)</span>
2019 Jul;59(4):132-141.
Epub 2018 Sep 5
doi: 10.1111/cga.12308.
<span class="bold">PMID: </span><a href="/pubmed/30132994" target="_blank">30132994</a></div>
<div class="nl"><a target="_blank" href="/pubmed/24656465">Clinicogenetic study of Turkish patients with syndromic craniosynostosis and literature review.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Nur BG,
Pehlivanoğlu S,
Mıhçı E,
Calışkan M,
Demir D,
Alper OM,
Kayserili H,
Lüleci G</span><br />
<span class="medgenPMjournal">Pediatr Neurol</span>
2014 May;50(5):482-90.
Epub 2014 Jan 11
doi: 10.1016/j.pediatrneurol.2014.01.023.
<span class="bold">PMID: </span><a href="/pubmed/24656465" target="_blank">24656465</a></div>
<div class="nl"><a target="_blank" href="/pubmed/18671283">A c.1019A &gt; G mutation in FGFR2, which predicts p.Tyr340Cys, in a lethally malformed fetus with Pfeiffer syndrome and multiple pterygia.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Baynam G,
Smith N,
Goldblatt J</span><br />
<span class="medgenPMjournal">Am J Med Genet A</span>
2008 Sep 1;146A(17):2301-3.
doi: 10.1002/ajmg.a.32443.
<span class="bold">PMID: </span><a href="/pubmed/18671283" target="_blank">18671283</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Pfeiffer%20syndrome%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 (67)</a></div><h3 class="subhead">Clinical prediction guides</h3>
<div class="nl"><a target="_blank" href="/pubmed/37477198">The Role of Airway Management on Feeding Difficulties in Children With Pfeiffer Syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Salem J,
Blumenow W,
Markey A,
Hogg ES,
McCann E,
Yassaie E,
Hennedige A,
De S,
Sharma SD</span><br />
<span class="medgenPMjournal">J Craniofac Surg</span>
2023 Oct 1;34(7):1985-1988.
Epub 2023 Jul 21
doi: 10.1097/SCS.0000000000009541.
<span class="bold">PMID: </span><a href="/pubmed/37477198" target="_blank">37477198</a></div>
<div class="nl"><a target="_blank" href="/pubmed/35171849">Orbital and Periorbital Dysmorphology in Untreated Pfeiffer Syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Lu X,
Forte AJ,
Allam O,
Park KE,
Wilson A,
Alperovich M,
Steinbacher DM,
Tonello C,
Alonso N,
Persing JA</span><br />
<span class="medgenPMjournal">Plast Reconstr Surg</span>
2022 Apr 1;149(4):731e-742e.
doi: 10.1097/PRS.0000000000008928.
<span class="bold">PMID: </span><a href="/pubmed/35171849" target="_blank">35171849</a></div>
<div class="nl"><a target="_blank" href="/pubmed/33083874">Nervous system involvement in Pfeiffer syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Mavridis IN,
Rodrigues D</span><br />
<span class="medgenPMjournal">Childs Nerv Syst</span>
2021 Feb;37(2):367-374.
Epub 2020 Oct 20
doi: 10.1007/s00381-020-04934-7.
<span class="bold">PMID: </span><a href="/pubmed/33083874" target="_blank">33083874</a></div>
<div class="nl"><a target="_blank" href="/pubmed/22921691">Pfeiffer syndrome type II discovered perinatally: Report of an observation and review of the literature.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Ben Hamouda H,
Tlili Y,
Ghanmi S,
Soua H,
Jerbi S,
Souissi MM,
Hamza H,
Sfar MT</span><br />
<span class="medgenPMjournal">Diagn Interv Imaging</span>
2012 Oct;93(10):785-9.
Epub 2012 Aug 21
doi: 10.1016/j.diii.2012.06.002.
<span class="bold">PMID: </span><a href="/pubmed/22921691" target="_blank">22921691</a></div>
<div class="nl"><a target="_blank" href="/pubmed/18671283">A c.1019A &gt; G mutation in FGFR2, which predicts p.Tyr340Cys, in a lethally malformed fetus with Pfeiffer syndrome and multiple pterygia.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Baynam G,
Smith N,
Goldblatt J</span><br />
<span class="medgenPMjournal">Am J Med Genet A</span>
2008 Sep 1;146A(17):2301-3.
doi: 10.1002/ajmg.a.32443.
<span class="bold">PMID: </span><a href="/pubmed/18671283" target="_blank">18671283</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Pfeiffer%20syndrome%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 (64)</a></div></div>
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<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>
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<div class="nl"><a target="_blank" href="/pubmed/34570275">Management of ventriculomegaly in pediatric patients with syndromic craniosynostosis: a single center experience.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Tcherbbis Testa V,
Jaimovich S,
Argañaraz R,
Mantese B</span><br />
<span class="medgenPMjournal">Acta Neurochir (Wien)</span>
2021 Nov;163(11):3083-3091.
Epub 2021 Sep 27
doi: 10.1007/s00701-021-04980-3.
<span class="bold">PMID: </span><a href="/pubmed/34570275" target="_blank">34570275</a></div>
<div class="nl"><a target="_blank" href="/pubmed/33083874">Nervous system involvement in Pfeiffer syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Mavridis IN,
Rodrigues D</span><br />
<span class="medgenPMjournal">Childs Nerv Syst</span>
2021 Feb;37(2):367-374.
Epub 2020 Oct 20
doi: 10.1007/s00381-020-04934-7.
<span class="bold">PMID: </span><a href="/pubmed/33083874" target="_blank">33083874</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Pfeiffer%20syndrome%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 (2)</a></div></div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln"><ul id="my-toc"></ul></div>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C0220658%5bDISCUI%5d&amp;filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (52)</a></li>
<li><a href="/gtr/tests?term=C0220658%5bDISCUI%5d&amp;filter=method%3A2%5F9" target="_blank">Sequence analysis of select exons (3)</a></li>
<li><a href="/gtr/tests?term=C0220658%5bDISCUI%5d&amp;filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (66)</a></li>
<li><a href="/gtr/tests?term=C0220658%5bDISCUI%5d&amp;filter=method%3A2%5F19" target="_blank">Targeted variant analysis (17)</a></li>
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C0220658%5bDISCUI%5d" target="_blank">See all (76)</a></total></li>
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<div class="portlet_content ln"><ul><li><a href="https://www.omim.org/search?index=entry&amp;start=1&amp;limit=10&amp;sort=score%20desc&amp;field=number&amp;search=101600" target="_blank">OMIM</a></li><li><a href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=710" target="_blank">Orphanet</a></li><li><a href="https://clinicaltrials.gov/search?cond=Pfeiffer%20syndrome" target="_blank">ClinicalTrials.gov</a></li></ul></div>
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