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<meta name="keywords" content="C4021812, abnormal head, abnormality of the head, anatomical abnormality, head abnormalities, head abnormality, 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="An abnormality of the head." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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UID=867438
|
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ConceptID=C4021812
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Abnormality of the head</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>867438</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information."><span class="highlight" style="background-color:">C4021812</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
||
<td>Head abnormalities</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:0000234">HP:0000234</a></td></tr>
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<div class="portlet mgSection" id="ID_100">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">An abnormality of the head. [from <a title="Human Phenotype Ontology" href="http://www.human-phenotype-ontology.org" class="defSource" target="_blank">HPO</a>]</div>
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</div>
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||
<div class="portlet mgSection" id="ID_118">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
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<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="TLline">Abnormality of the head</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/867443" ref="tree=MeSH" title="MedGen record for Phenotypic abnormality">Phenotypic abnormality</a></span><ul><li><span class="TLline"><a href="/medgen/867442" ref="tree=MeSH" title="MedGen record for Abnormality of head or neck">Abnormality of head or neck</a></span><ul><li><span class="matched_ds">Abnormality of the head</span><ul><li><span class="TLline"><a href="/medgen/871249" ref="tree=MeSH" title="MedGen record for Abnormal scalp morphology">Abnormal scalp morphology</a></span><ul><li><span class="TLline"><a href="/medgen/867993" ref="tree=MeSH" title="MedGen record for Abnormality of the scalp hair">Abnormality of the scalp hair</a></span><ul><li><span class="TLline"><a href="/medgen/869866" ref="tree=MeSH" title="MedGen record for Abnormality of the hairline">Abnormality of the hairline</a></span></li><li><span class="TLline"><a href="/medgen/658454" ref="tree=MeSH" title="MedGen record for Alopecia of scalp">Alopecia of scalp</a></span></li><li><span class="TLline"><a href="/medgen/867992" ref="tree=MeSH" title="MedGen record for Slow-growing scalp hair">Slow-growing scalp hair</a></span></li><li><span class="TLline"><a href="/medgen/346499" ref="tree=MeSH" title="MedGen record for Sparse scalp hair">Sparse scalp hair</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1641970" ref="tree=MeSH" title="MedGen record for Scalp edema">Scalp edema</a></span></li><li><span class="TLline"><a href="/medgen/1863847" ref="tree=MeSH" title="MedGen record for Scalp nodule">Scalp nodule</a></span></li><li><span class="TLline"><a href="/medgen/508748" ref="tree=MeSH" title="MedGen record for Scalp tenderness">Scalp tenderness</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/871375" ref="tree=MeSH" title="MedGen record for Abnormality of the face">Abnormality of the face</a></span><ul><li><span class="TLline"><a href="/medgen/870752" ref="tree=MeSH" title="MedGen record for Abnormal facial expression">Abnormal facial expression</a></span><ul><li><span class="TLline"><a href="/medgen/350680" ref="tree=MeSH" title="MedGen record for Decreased facial expression">Decreased facial expression</a></span></li><li><span class="TLline"><a href="/medgen/870758" ref="tree=MeSH" title="MedGen record for Disturbance of facial expression">Disturbance of facial expression</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/98409" ref="tree=MeSH" title="MedGen record for Abnormal facial shape">Abnormal facial shape</a></span><ul><li><span class="TLline"><a href="/medgen/325243" ref="tree=MeSH" title="MedGen record for Bird-like facies">Bird-like facies</a></span></li><li><span class="TLline"><a href="/medgen/335284" ref="tree=MeSH" title="MedGen record for Coarse facial features">Coarse facial features</a></span></li><li><span class="TLline"><a href="/medgen/357916" ref="tree=MeSH" title="MedGen record for Craniofacial disproportion">Craniofacial disproportion</a></span></li><li><span class="TLline"><a href="/medgen/383894" ref="tree=MeSH" title="MedGen record for Doll-like facies">Doll-like facies</a></span></li><li><span class="TLline"><a href="/medgen/87157" ref="tree=MeSH" title="MedGen record for Elfin facies">Elfin facies</a></span></li><li><span class="TLline"><a href="/medgen/266298" ref="tree=MeSH" title="MedGen record for Facial asymmetry">Facial asymmetry</a></span></li><li><span class="TLline"><a href="/medgen/866806" ref="tree=MeSH" title="MedGen record for Facial shape deformation">Facial shape deformation</a></span></li><li><span class="TLline"><a href="/medgen/342829" ref="tree=MeSH" title="MedGen record for Flat face">Flat face</a></span></li><li><span class="TLline"><a href="/medgen/411263" ref="tree=MeSH" title="MedGen record for Large face">Large face</a></span></li><li><span class="TLline"><a href="/medgen/568451" ref="tree=MeSH" title="MedGen record for Moon facies">Moon facies</a></span></li><li><span class="TLline"><a href="/medgen/336480" ref="tree=MeSH" title="MedGen record for Oval face">Oval face</a></span></li><li><span class="TLline"><a href="/medgen/116087" ref="tree=MeSH" title="MedGen record for Round face">Round face</a></span></li><li><span class="TLline"><a href="/medgen/343376" ref="tree=MeSH" title="MedGen record for Small face">Small face</a></span></li><li><span class="TLline"><a href="/medgen/371253" ref="tree=MeSH" title="MedGen record for Square face">Square face</a></span></li><li><span class="TLline"><a href="/medgen/324383" ref="tree=MeSH" title="MedGen record for Triangular face">Triangular face</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/871371" ref="tree=MeSH" title="MedGen record for Abnormal forehead morphology">Abnormal forehead morphology</a></span><ul><li><span class="TLline"><a href="/medgen/867395" ref="tree=MeSH" title="MedGen record for Abnormality of the glabella">Abnormality of the glabella</a></span></li><li><span class="TLline"><a href="/medgen/338610" ref="tree=MeSH" title="MedGen record for Broad forehead">Broad forehead</a></span></li><li><span class="TLline"><a href="/medgen/347463" ref="tree=MeSH" title="MedGen record for Flat forehead">Flat forehead</a></span></li><li><span class="TLline"><a href="/medgen/65991" ref="tree=MeSH" title="MedGen record for High forehead">High forehead</a></span></li><li><span class="TLline"><a href="/medgen/326962" ref="tree=MeSH" title="MedGen record for Large forehead">Large forehead</a></span></li><li><span class="TLline"><a href="/medgen/326956" ref="tree=MeSH" title="MedGen record for Narrow forehead">Narrow forehead</a></span></li><li><span class="TLline"><a href="/medgen/373291" ref="tree=MeSH" title="MedGen record for Prominent forehead">Prominent forehead</a></span></li><li><span class="TLline"><a href="/medgen/346640" ref="tree=MeSH" title="MedGen record for Sloping forehead">Sloping forehead</a></span></li><li><span class="TLline"><a href="/medgen/336888" ref="tree=MeSH" title="MedGen record for Small forehead">Small forehead</a></span></li><li><span class="TLline"><a href="/medgen/869038" ref="tree=MeSH" title="MedGen record for Vertical forehead creases">Vertical forehead creases</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/867437" ref="tree=MeSH" title="MedGen record for Abnormal midface morphology">Abnormal midface morphology</a></span><ul><li><span class="TLline"><a href="/medgen/870864" ref="tree=MeSH" title="MedGen record for Abnormal cheek morphology">Abnormal cheek morphology</a></span></li><li><span class="TLline"><a href="/medgen/451009" ref="tree=MeSH" title="MedGen record for Hyperplasia of midface">Hyperplasia of midface</a></span></li><li><span class="TLline"><a href="/medgen/339938" ref="tree=MeSH" title="MedGen record for Midface retrusion">Midface retrusion</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/868778" ref="tree=MeSH" title="MedGen record for Abnormality of facial soft tissue">Abnormality of facial soft tissue</a></span><ul><li><span class="TLline"><a href="/medgen/871370" ref="tree=MeSH" title="MedGen record for Abnormality of facial adipose tissue">Abnormality of facial adipose tissue</a></span></li><li><span class="TLline"><a href="/medgen/75563" ref="tree=MeSH" title="MedGen record for Adenoma sebaceum">Adenoma sebaceum</a></span></li><li><span class="TLline"><a href="/medgen/82666" ref="tree=MeSH" title="MedGen record for Atrophoderma vermiculatum">Atrophoderma vermiculatum</a></span></li><li><span class="TLline"><a href="/medgen/154241" ref="tree=MeSH" title="MedGen record for Facial edema">Facial edema</a></span></li><li><span class="TLline"><a href="/medgen/348361" ref="tree=MeSH" title="MedGen record for Facial hemangioma">Facial hemangioma</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/871368" ref="tree=MeSH" title="MedGen record for Abnormality of the chin">Abnormality of the chin</a></span><ul><li><span class="TLline"><a href="/medgen/868767" ref="tree=MeSH" title="MedGen record for Broad chin">Broad chin</a></span></li><li><span class="TLline"><a href="/medgen/348588" ref="tree=MeSH" title="MedGen record for Chin with H-shaped crease">Chin with H-shaped crease</a></span></li><li><span class="TLline"><a href="/medgen/868766" ref="tree=MeSH" title="MedGen record for Chin with horizontal crease">Chin with horizontal crease</a></span></li><li><span class="TLline"><a href="/medgen/866570" ref="tree=MeSH" title="MedGen record for Chin with vertical crease">Chin with vertical crease</a></span></li><li><span class="TLline"><a href="/medgen/336544" ref="tree=MeSH" title="MedGen record for Cleft of chin">Cleft of chin</a></span></li><li><span class="TLline"><a href="/medgen/1370532" ref="tree=MeSH" title="MedGen record for Dimple chin">Dimple chin</a></span></li><li><span class="TLline"><a href="/medgen/98316" ref="tree=MeSH" title="MedGen record for Mandibular prognathia">Mandibular prognathia</a></span></li><li><span class="TLline"><a href="/medgen/336193" ref="tree=MeSH" title="MedGen record for Pointed chin">Pointed chin</a></span></li><li><span class="TLline"><a href="/medgen/784514" ref="tree=MeSH" title="MedGen record for Short chin">Short chin</a></span></li><li><span class="TLline"><a href="/medgen/867496" ref="tree=MeSH" title="MedGen record for Tall chin">Tall chin</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/6447" ref="tree=MeSH" title="MedGen record for Abnormality of the mouth">Abnormality of the mouth</a></span><ul><li><span class="TLline"><a href="/medgen/1645271" ref="tree=MeSH" title="MedGen record for Abnormal oral morphology">Abnormal oral morphology</a></span></li><li><span class="TLline"><a href="/medgen/1631824" ref="tree=MeSH" title="MedGen record for Abnormal oral physiology">Abnormal oral physiology</a></span></li><li><span class="TLline"><a href="/medgen/451075" ref="tree=MeSH" title="MedGen record for Abnormality of the tongue">Abnormality of the tongue</a></span></li><li><span class="TLline"><a href="/medgen/40327" ref="tree=MeSH" title="MedGen record for Cleft upper lip">Cleft upper lip</a></span></li><li><span class="TLline"><a href="/medgen/42017" ref="tree=MeSH" title="MedGen record for Gingival fibromatosis">Gingival fibromatosis</a></span></li><li><span class="TLline"><a href="/medgen/44435" ref="tree=MeSH" title="MedGen record for Narrow mouth">Narrow mouth</a></span></li><li><span class="TLline"><a href="/medgen/52992" ref="tree=MeSH" title="MedGen record for Velopharyngeal insufficiency">Velopharyngeal insufficiency</a></span></li><li><span class="TLline"><a href="/medgen/44238" ref="tree=MeSH" title="MedGen record for Wide mouth">Wide mouth</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/539457" ref="tree=MeSH" title="MedGen record for Abnormality of the nose">Abnormality of the nose</a></span><ul><li><span class="TLline"><a href="/medgen/870795" ref="tree=MeSH" title="MedGen record for Abnormal nasal morphology">Abnormal nasal morphology</a></span></li><li><span class="TLline"><a href="/medgen/870766" ref="tree=MeSH" title="MedGen record for Abnormal nasolabial region morphology">Abnormal nasolabial region morphology</a></span></li><li><span class="TLline"><a href="/medgen/6523" ref="tree=MeSH" title="MedGen record for Nasal congestion">Nasal congestion</a></span></li><li><span class="TLline"><a href="/medgen/19782" ref="tree=MeSH" title="MedGen record for Rhinitis">Rhinitis</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/871367" ref="tree=MeSH" title="MedGen record for Abnormality of the orbital region">Abnormality of the orbital region</a></span><ul><li><span class="TLline"><a href="/medgen/1670962" ref="tree=MeSH" title="MedGen record for Abnormality of the ocular adnexa">Abnormality of the ocular adnexa</a></span></li><li><span class="TLline"><a href="/medgen/56359" ref="tree=MeSH" title="MedGen record for Orbital cyst">Orbital cyst</a></span></li><li><span class="TLline"><a href="/medgen/1863893" ref="tree=MeSH" title="MedGen record for Orbital inflammation">Orbital inflammation</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/871344" ref="tree=MeSH" title="MedGen record for Abnormality of the periorbital region">Abnormality of the periorbital region</a></span><ul><li><span class="TLline"><a href="/medgen/867638" ref="tree=MeSH" title="MedGen record for Abnormality of the supraorbital ridges">Abnormality of the supraorbital ridges</a></span></li><li><span class="TLline"><a href="/medgen/893154" ref="tree=MeSH" title="MedGen record for Bitemporal forceps marks">Bitemporal forceps marks</a></span></li><li><span class="TLline"><a href="/medgen/343363" ref="tree=MeSH" title="MedGen record for Bitemporal hollowing">Bitemporal hollowing</a></span></li><li><span class="TLline"><a href="/medgen/347408" ref="tree=MeSH" title="MedGen record for Infra-orbital crease">Infra-orbital crease</a></span></li><li><span class="TLline"><a href="/medgen/869032" ref="tree=MeSH" title="MedGen record for Infra-orbital fold">Infra-orbital fold</a></span></li><li><span class="TLline"><a href="/medgen/1618865" ref="tree=MeSH" title="MedGen record for Periorbital ecchymosis with tarsal plate sparing">Periorbital ecchymosis with tarsal plate sparing</a></span></li><li><span class="TLline"><a href="/medgen/56223" ref="tree=MeSH" title="MedGen record for Periorbital edema">Periorbital edema</a></span></li><li><span class="TLline"><a href="/medgen/1710990" ref="tree=MeSH" title="MedGen record for Periorbital fullness">Periorbital fullness</a></span></li><li><span class="TLline"><a href="/medgen/1619276" ref="tree=MeSH" title="MedGen record for Periorbital purpura">Periorbital purpura</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/892856" ref="tree=MeSH" title="MedGen record for Abnormality of the submandibular region">Abnormality of the submandibular region</a></span><ul><li><span class="TLline"><a href="/medgen/893030" ref="tree=MeSH" title="MedGen record for Abnormality of mylohyoid muscle">Abnormality of mylohyoid muscle</a></span></li></ul></li></ul></li><li><span class="TLline"><a href="/medgen/1853793" ref="tree=MeSH" title="MedGen record for Craniofacial cleft">Craniofacial cleft</a></span><ul><li><span class="TLline"><a href="/medgen/472000" ref="tree=MeSH" title="MedGen record for Orofacial cleft">Orofacial cleft</a></span><ul><li><span class="TLline"><a href="/medgen/488995" ref="tree=MeSH" title="MedGen record for Cleft maxillary alveolar ridge">Cleft maxillary alveolar ridge</a></span></li><li><span class="TLline"><a href="/medgen/756015" ref="tree=MeSH" title="MedGen record for Cleft palate">Cleft palate</a></span></li><li><span class="TLline"><a href="/medgen/349303" ref="tree=MeSH" title="MedGen record for Orofacial cleft 1">Orofacial cleft 1</a></span></li><li><span class="TLline"><a href="/medgen/400499" ref="tree=MeSH" title="MedGen record for Orofacial cleft 2">Orofacial cleft 2</a></span></li><li><span class="TLline"><a href="/medgen/318860" ref="tree=MeSH" title="MedGen record for Orofacial cleft 3">Orofacial cleft 3</a></span></li><li><span class="TLline"><a href="/medgen/331228" ref="tree=MeSH" title="MedGen record for Orofacial cleft 4">Orofacial cleft 4</a></span></li><li><span class="TLline"><a href="/medgen/373280" ref="tree=MeSH" title="MedGen record for Orofacial cleft 5">Orofacial cleft 5</a></span></li><li><span class="TLline"><a href="/medgen/377541" ref="tree=MeSH" title="MedGen record for Orofacial cleft 8">Orofacial cleft 8</a></span></li><li><span class="TLline"><a href="/medgen/332079" ref="tree=MeSH" title="MedGen record for Orofacial cleft 9">Orofacial cleft 9</a></span></li><li><span class="TLline"><a href="/medgen/355621" ref="tree=MeSH" title="MedGen record for Orofacial cleft 10">Orofacial cleft 10</a></span></li><li><span class="TLline"><a href="/medgen/436944" ref="tree=MeSH" title="MedGen record for Orofacial cleft 11">Orofacial cleft 11</a></span></li><li><span class="TLline"><a href="/medgen/411596" ref="tree=MeSH" title="MedGen record for Orofacial cleft 12">Orofacial cleft 12</a></span></li><li><span class="TLline"><a href="/medgen/462572" ref="tree=MeSH" title="MedGen record for Orofacial cleft 13">Orofacial cleft 13</a></span></li><li><span class="TLline"><a href="/medgen/332391" ref="tree=MeSH" title="MedGen record for Orofacial cleft 6, susceptibility to">Orofacial cleft 6, susceptibility to</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/146898" ref="tree=MeSH" title="MedGen record for Tessier cleft">Tessier cleft</a></span><ul><li><span class="TLline"><a href="/medgen/867619" ref="tree=MeSH" title="MedGen record for Midline facial cleft">Midline facial cleft</a></span></li><li><span class="TLline"><a href="/medgen/347491" ref="tree=MeSH" title="MedGen record for Orbital cleft">Orbital cleft</a></span></li><li><span class="TLline"><a href="/medgen/1648013" ref="tree=MeSH" title="MedGen record for Paramedian facial cleft">Paramedian facial cleft</a></span></li></ul></li></ul></li><li><span class="TLline"><a href="/medgen/1374080" ref="tree=MeSH" title="MedGen record for Fixed head retroflexion">Fixed head retroflexion</a></span></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Conditions_with_this_feature">Conditions with this feature</h1><a sid="112" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln clinfeat">
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<div class="divPopper rprt" id="rdis_310065"><div><strong>Hyperparathyroidism 2 with jaw tumors</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>310065</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1704981</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">The spectrum of CDC73-related disorders includes the following phenotypes: Hyperparathyroidism-jaw tumor (HPT-JT) syndrome. Primary hyperparathyroidism occurs in a vast majority of affected individuals, with onset typically in late adolescence or early adulthood. HPT-JT syndrome-associated primary hyperparathyroidism is usually caused by a single parathyroid adenoma. In at least 10%-15% of individuals, primary hyperparathyroidism is caused by parathyroid carcinoma. Ossifying fibromas of the mandible or maxilla, also known as cementifying fibromas and cemento-ossifying fibromas, occur in 30%-40% of individuals with HPT-JT syndrome. Although benign, these tumors can be locally aggressive and may continue to enlarge if not treated. Up to 20% of individuals with HPT-JT syndrome have kidney lesions, most commonly cysts; renal hamartomas and (more rarely) Wilms tumor have also been reported. Benign uterine tumors appear to be common in women with HPT-JT syndrome; uterine malignancies have also been reported. Parathyroid carcinoma. Most parathyroid carcinomas are functional, resulting in primary hyperparathyroidism and a high serum calcium level; however, nonfunctioning parathyroid carcinomas are also rarely described in individuals with a CDC73-related disorder. A germline CDC73 pathogenic variant has been identified in 20%-29% of individuals with parathyroid carcinoma without a known family history of CDC73-related conditions. Familial isolated hyperparathyroidism (FIHP). Characterized by primary hyperparathyroidism without other associated syndromic features. Individuals with CDC73-related FIHP tend to have a more severe clinical presentation and younger age of onset than individuals with FIHP in whom a CDC73 pathogenic variant has not been identified.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/310065">Condition Record</a></div></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_310065" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hyperparathyroidism 2 with jaw tumors</a></div></div>
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</div>
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<div class="portlet mgSection" id="ID_105">
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<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>
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<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>
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<div class="nl"><a target="_blank" href="/pubmed/1564490">Psychological functioning before and after treatment of torticollis with botulinum toxin.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Jahanshahi M,
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Marsden CD</span><br />
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<span class="medgenPMjournal">J Neurol Neurosurg Psychiatry</span>
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1992 Mar;55(3):229-31.
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||
doi: 10.1136/jnnp.55.3.229.
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<span class="bold">PMID: </span><a href="/pubmed/1564490" target="_blank">1564490</a><a href="/pmc/articles/PMC1014736" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22abnormality%20of%20the%20head%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (1)</a></div></div>
|
||
</div>
|
||
<div class="display-none help-popup" id="guidelinesHelpPM">These guidelines are articles in PubMed that match specific search criteria developed by MedGen to capture the most relevant practice guidelines. This list may not be comprehensive and may include broader topics as well. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div><div class="display-none help-popup" id="guidelinesHelpCurated">These guidelines are manually curated by the MedGen team
|
||
to supplement articles available in PubMed. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div>
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<div class="portlet mgSection" id="ID_103">
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<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>
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<div class="portlet_content ln"><h3 class="subhead">Etiology</h3>
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<div class="nl"><a target="_blank" href="/pubmed/34205270">Genotype-Phenotype Correlations in 208 Individuals with Coffin-Siris Syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Vasko A,
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||
Drivas TG,
|
||
Schrier Vergano SA</span><br />
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<span class="medgenPMjournal">Genes (Basel)</span>
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||
2021 Jun 19;12(6)
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||
doi: 10.3390/genes12060937.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34205270" target="_blank">34205270</a><a href="/pmc/articles/PMC8233770" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
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||
<div class="nl"><a target="_blank" href="/pubmed/31693576">Diversity and dysmorphology.</a></div>
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||
<div class="portlet_content ln"><span class="medgenPMauthor">Kruszka P,
|
||
Tekendo-Ngongang C,
|
||
Muenke M</span><br />
|
||
<span class="medgenPMjournal">Curr Opin Pediatr</span>
|
||
2019 Dec;31(6):702-707.
|
||
doi: 10.1097/MOP.0000000000000816.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31693576" target="_blank">31693576</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30396407">Airway Anomalies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Landry AM,
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||
Rutter MJ</span><br />
|
||
<span class="medgenPMjournal">Clin Perinatol</span>
|
||
2018 Dec;45(4):597-607.
|
||
Epub 2018 Sep 11
|
||
doi: 10.1016/j.clp.2018.07.002.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30396407" target="_blank">30396407</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24135340">Etiology and genes.</a></div>
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||
<div class="portlet_content ln"><span class="medgenPMauthor">Matsunaga T</span><br />
|
||
<span class="medgenPMjournal">Adv Otorhinolaryngol</span>
|
||
2014;75:2-8.
|
||
Epub 2013 Oct 11
|
||
doi: 10.1159/000350491.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24135340" target="_blank">24135340</a></div>
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||
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||
<div class="nl"><a target="_blank" href="/pubmed/19125436">Elements of morphology: standard terminology for the head and face.</a></div>
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||
<div class="portlet_content ln"><span class="medgenPMauthor">Allanson JE,
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||
Cunniff C,
|
||
Hoyme HE,
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||
McGaughran J,
|
||
Muenke M,
|
||
Neri G</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2009 Jan;149A(1):6-28.
|
||
doi: 10.1002/ajmg.a.32612.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19125436" target="_blank">19125436</a><a href="/pmc/articles/PMC2778021" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormality%20of%20the%20head%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 (21362)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormality%20of%20the%20head%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 (21445)</a></div><h3 class="subhead">Therapy</h3>
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<div class="nl"><a target="_blank" href="/pubmed/30396417">Congenital Neck Masses.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Quintanilla-Dieck L,
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<div class="nl"><a target="_blank" href="/pubmed/12215698">Fryns syndrome.</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/8617541">Congenital contractural arachnodactyly.</a></div>
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Han Z,
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<div class="nl"><a target="_blank" href="/pubmed/14211086">THE FACE PREDICTS THE BRAIN: DIAGNOSTIC SIGNIFICANCE OF MEDIAN FACIAL ANOMALIES FOR HOLOPROSENCEPHALY (ARHINENCEPHALY).</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormality%20of%20the%20head%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 (13289)</a></div></div>
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</div>
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<div class="portlet mgSection" id="ID_104">
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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="portlet_content ln">
|
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<div class="nl"><a target="_blank" href="/pubmed/35526176">Efficacy of sirolimus in children with lymphatic malformations of the head and neck.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wiegand S,
|
||
Dietz A,
|
||
Wichmann G</span><br />
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||
<span class="medgenPMjournal">Eur Arch Otorhinolaryngol</span>
|
||
2022 Aug;279(8):3801-3810.
|
||
Epub 2022 May 8
|
||
doi: 10.1007/s00405-022-07378-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35526176" target="_blank">35526176</a><a href="/pmc/articles/PMC9249683" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32886029">Treatment of keratosis pilaris and its variants: a systematic review.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Maghfour J,
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Ly S,
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Haidari W,
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Taylor SL,
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Feldman SR</span><br />
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<span class="medgenPMjournal">J Dermatolog Treat</span>
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2022 May;33(3):1231-1242.
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||
Epub 2020 Sep 14
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doi: 10.1080/09546634.2020.1818678.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32886029" target="_blank">32886029</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33474984">Best Practices: Hip Femoroacetabular Impingement.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Schmaranzer F,
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Kheterpal AB,
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Bredella MA</span><br />
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<span class="medgenPMjournal">AJR Am J Roentgenol</span>
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2021 Mar;216(3):585-598.
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Epub 2021 Jan 21
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<span class="bold">PMID: </span><a href="/pubmed/33474984" target="_blank">33474984</a><a href="/pmc/articles/PMC8116615" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
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||
<div class="nl"><a target="_blank" href="/pubmed/32522230">The effectiveness and safety of conservative interventions for positional plagiocephaly and congenital muscular torticollis: a synthesis of systematic reviews and guidance.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Ellwood J,
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Draper-Rodi J,
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Carnes D</span><br />
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<span class="medgenPMjournal">Chiropr Man Therap</span>
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2020 Jun 11;28(1):31.
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<span class="bold">PMID: </span><a href="/pubmed/32522230" target="_blank">32522230</a><a href="/pmc/articles/PMC7288527" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30721300">Will This Patient Be Difficult to Intubate?: The Rational Clinical Examination Systematic Review.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Detsky ME,
|
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Jivraj N,
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Adhikari NK,
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Friedrich JO,
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Pinto R,
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Simel DL,
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Wijeysundera DN,
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Scales DC</span><br />
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2019 Feb 5;321(5):493-503.
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<span class="bold">PMID: </span><a href="/pubmed/30721300" target="_blank">30721300</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormality%20of%20the%20head%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 (627)</a></div></div>
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<h2 class="offscreen_noflow">Supplemental Content</h2>
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