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<meta name="keywords" content="C4025871, abnormal face, abnormality of the countenance, abnormality of the face, abnormality of the physiognomy, abnormality of the visage, anatomical abnormality, anomaly of face, anomaly of the face, disorder of face, disorder of the face, facial abnormality, facial anomaly, 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 face." /><meta name="robots" content="index,nofollow,noarchive" />
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<title>Abnormality of the face (Concept Id: C4025871)
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<!--
UID=871375
ConceptID=C4025871
-->
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Abnormality of the face</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>871375</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information."><span class="highlight" style="background-color:">C4025871</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
<td>Abnormal face; Abnormality of the countenance; Abnormality of the physiognomy; Abnormality of the visage; Anomaly of face; Anomaly of the face; Disorder of face; Disorder of the face; Facial abnormality; Facial anomaly</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:0000271">HP:0000271</a></td></tr>
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<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">An abnormality of the face. [from <a title="Human Phenotype Ontology" href="http://www.human-phenotype-ontology.org" class="defSource" target="_blank">HPO</a>]</div>
</div>
<div class="portlet mgSection" id="ID_118">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test,  </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test,  </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM,  </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>,  </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar  </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="TLline">Abnormality of the face</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="TLline"><a href="/medgen/867438" ref="tree=MeSH" title="MedGen record for Abnormality of the head">Abnormality of the head</a></span><ul><li><span class="matched_ds">Abnormality of the face</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><ul><li><span class="TLline"><a href="/medgen/344480" ref="tree=MeSH" title="MedGen record for Fixed facial expression">Fixed facial expression</a></span></li><li><span class="TLline"><a href="/medgen/208827" ref="tree=MeSH" title="MedGen record for Hypomimic face">Hypomimic face</a></span></li><li><span class="TLline"><a href="/medgen/343819" ref="tree=MeSH" title="MedGen record for Loss of facial expression">Loss of facial expression</a></span></li><li><span class="TLline"><a href="/medgen/140860" ref="tree=MeSH" title="MedGen record for Mask-like facies">Mask-like facies</a></span></li><li><span class="TLline"><a href="/medgen/90695" ref="tree=MeSH" title="MedGen record for Myopathic facies">Myopathic facies</a></span></li></ul></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><ul><li><span class="TLline"><a href="/medgen/65891" ref="tree=MeSH" title="MedGen record for Facial grimacing">Facial grimacing</a></span></li><li><span class="TLline"><a href="/medgen/124458" ref="tree=MeSH" title="MedGen record for Facial tics">Facial tics</a></span></li><li><span class="TLline"><a href="/medgen/575632" ref="tree=MeSH" title="MedGen record for Risus sardonicus">Risus sardonicus</a></span></li><li><span class="TLline"><a href="/medgen/870757" ref="tree=MeSH" title="MedGen record for Sleepy facial expression">Sleepy facial expression</a></span></li></ul></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><ul><li><span class="TLline"><a href="/medgen/335321" ref="tree=MeSH" title="MedGen record for Pugilistic facies">Pugilistic facies</a></span></li></ul></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><ul><li><span class="TLline"><a href="/medgen/140911" ref="tree=MeSH" title="MedGen record for Congenital unilateral hypoplasia of depressor anguli oris">Congenital unilateral hypoplasia of depressor anguli oris</a></span></li><li><span class="TLline"><a href="/medgen/8761" ref="tree=MeSH" title="MedGen record for Hemifacial atrophy">Hemifacial atrophy</a></span></li><li><span class="TLline"><a href="/medgen/452987" ref="tree=MeSH" title="MedGen record for Hemifacial hypertrophy">Hemifacial hypertrophy</a></span></li><li><span class="TLline"><a href="/medgen/868995" ref="tree=MeSH" title="MedGen record for Hemifacial hypoplasia">Hemifacial hypoplasia</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/866806" ref="tree=MeSH" title="MedGen record for Facial shape deformation">Facial shape deformation</a></span><ul><li><span class="TLline"><a href="/medgen/78614" ref="tree=MeSH" title="MedGen record for Potter facies">Potter facies</a></span></li></ul></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><ul><li><span class="TLline"><a href="/medgen/349223" ref="tree=MeSH" title="MedGen record for Broad face">Broad face</a></span></li><li><span class="TLline"><a href="/medgen/324419" ref="tree=MeSH" title="MedGen record for Long face">Long face</a></span></li></ul></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><ul><li><span class="TLline"><a href="/medgen/373334" ref="tree=MeSH" title="MedGen record for Narrow face">Narrow face</a></span></li><li><span class="TLline"><a href="/medgen/869039" ref="tree=MeSH" title="MedGen record for Short face">Short face</a></span></li></ul></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><ul><li><span class="TLline"><a href="/medgen/869037" ref="tree=MeSH" title="MedGen record for Depressed glabella">Depressed glabella</a></span></li><li><span class="TLline"><a href="/medgen/349761" ref="tree=MeSH" title="MedGen record for Prominent glabella">Prominent glabella</a></span></li></ul></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><ul><li><span class="TLline"><a href="/medgen/892914" ref="tree=MeSH" title="MedGen record for Abnormal buccal fat pad morphology">Abnormal buccal fat pad morphology</a></span></li><li><span class="TLline"><a href="/medgen/893093" ref="tree=MeSH" title="MedGen record for Abnormal buccal mucosa morphology">Abnormal buccal mucosa morphology</a></span></li><li><span class="TLline"><a href="/medgen/871362" ref="tree=MeSH" title="MedGen record for Abnormal periauricular region morphology">Abnormal periauricular region morphology</a></span></li><li><span class="TLline"><a href="/medgen/892668" ref="tree=MeSH" title="MedGen record for Abnormality of buccinator muscle">Abnormality of buccinator muscle</a></span></li><li><span class="TLline"><a href="/medgen/355661" ref="tree=MeSH" title="MedGen record for Full cheeks">Full cheeks</a></span></li><li><span class="TLline"><a href="/medgen/1814407" ref="tree=MeSH" title="MedGen record for Premature sagging cheeks">Premature sagging cheeks</a></span></li><li><span class="TLline"><a href="/medgen/869726" ref="tree=MeSH" title="MedGen record for Sunken cheeks">Sunken cheeks</a></span></li></ul></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><ul><li><span class="TLline"><a href="/medgen/871372" ref="tree=MeSH" title="MedGen record for Increased facial adipose tissue">Increased facial adipose tissue</a></span></li></ul></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><ul><li><span class="TLline"><a href="/medgen/350686" ref="tree=MeSH" title="MedGen record for Facial midline hemangioma">Facial midline hemangioma</a></span></li><li><span class="TLline"><a href="/medgen/376233" ref="tree=MeSH" title="MedGen record for Plaque-like facial hemangioma">Plaque-like facial hemangioma</a></span></li></ul></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><ul><li><span class="TLline"><a href="/medgen/892994" ref="tree=MeSH" title="MedGen record for Abnormal mandible condylar process morphology">Abnormal mandible condylar process morphology</a></span></li><li><span class="TLline"><a href="/medgen/893105" ref="tree=MeSH" title="MedGen record for Abnormal mandible coronoid process morphology">Abnormal mandible coronoid process morphology</a></span></li><li><span class="TLline"><a href="/medgen/893034" ref="tree=MeSH" title="MedGen record for Abnormal mandibular symphysis morphology">Abnormal mandibular symphysis morphology</a></span></li><li><span class="TLline"><a href="/medgen/871391" ref="tree=MeSH" title="MedGen record for Abnormal oral cavity morphology">Abnormal oral cavity morphology</a></span></li><li><span class="TLline"><a href="/medgen/19310" ref="tree=MeSH" title="MedGen record for Isolated Pierre-Robin syndrome">Isolated Pierre-Robin syndrome</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1631824" ref="tree=MeSH" title="MedGen record for Abnormal oral physiology">Abnormal oral physiology</a></span><ul><li><span class="TLline"><a href="/medgen/907476" ref="tree=MeSH" title="MedGen record for Abnormal tongue physiology">Abnormal tongue physiology</a></span></li><li><span class="TLline"><a href="/medgen/867592" ref="tree=MeSH" title="MedGen record for Abnormality of salivation">Abnormality of salivation</a></span></li><li><span class="TLline"><a href="/medgen/1684339" ref="tree=MeSH" title="MedGen record for Burning mouth">Burning mouth</a></span></li><li><span class="TLline"><a href="/medgen/42326" ref="tree=MeSH" title="MedGen record for Halitosis">Halitosis</a></span></li><li><span class="TLline"><a href="/medgen/66779" ref="tree=MeSH" title="MedGen record for Impaired mastication">Impaired mastication</a></span></li><li><span class="TLline"><a href="/medgen/1695775" ref="tree=MeSH" title="MedGen record for Masseter muscular weakness">Masseter muscular weakness</a></span></li><li><span class="TLline"><a href="/medgen/10459" ref="tree=MeSH" title="MedGen record for Oral bleeding">Oral bleeding</a></span></li><li><span class="TLline"><a href="/medgen/868216" ref="tree=MeSH" title="MedGen record for Oral cavity bleeding">Oral cavity bleeding</a></span></li></ul></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><ul><li><span class="TLline"><a href="/medgen/1842011" ref="tree=MeSH" title="MedGen record for Complete cleft of the upper lip">Complete cleft of the upper lip</a></span></li><li><span class="TLline"><a href="/medgen/866805" ref="tree=MeSH" title="MedGen record for Incomplete cleft of the upper lip">Incomplete cleft of the upper lip</a></span></li><li><span class="TLline"><a href="/medgen/342454" ref="tree=MeSH" title="MedGen record for Median cleft upper lip">Median cleft upper lip</a></span></li><li><span class="TLline"><a href="/medgen/1841679" ref="tree=MeSH" title="MedGen record for Microform cleft of the upper lip">Microform cleft of the upper lip</a></span></li><li><span class="TLline"><a href="/medgen/866673" ref="tree=MeSH" title="MedGen record for Non-midline cleft of the upper lip">Non-midline cleft of the upper lip</a></span></li></ul></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><ul><li><span class="TLline"><a href="/medgen/871361" ref="tree=MeSH" title="MedGen record for Abnormal choanae morphology">Abnormal choanae morphology</a></span></li><li><span class="TLline"><a href="/medgen/869216" ref="tree=MeSH" title="MedGen record for Abnormal external nose morphology">Abnormal external nose morphology</a></span></li><li><span class="TLline"><a href="/medgen/868324" ref="tree=MeSH" title="MedGen record for Abnormal nasal base norphology">Abnormal nasal base norphology</a></span></li><li><span class="TLline"><a href="/medgen/867431" ref="tree=MeSH" title="MedGen record for Abnormal nasal bridge morphology">Abnormal nasal bridge morphology</a></span></li><li><span class="TLline"><a href="/medgen/869337" ref="tree=MeSH" title="MedGen record for Abnormal nasal cavity morphology">Abnormal nasal cavity morphology</a></span></li><li><span class="TLline"><a href="/medgen/867479" ref="tree=MeSH" title="MedGen record for Abnormal nasal hair morphology">Abnormal nasal hair morphology</a></span></li><li><span class="TLline"><a href="/medgen/871360" ref="tree=MeSH" title="MedGen record for Abnormal nasal mucosa morphology">Abnormal nasal mucosa morphology</a></span></li><li><span class="TLline"><a href="/medgen/1374137" ref="tree=MeSH" title="MedGen record for Abnormal nasal septum morphology">Abnormal nasal septum morphology</a></span></li><li><span class="TLline"><a href="/medgen/867276" ref="tree=MeSH" title="MedGen record for Abnormal nostril morphology">Abnormal nostril morphology</a></span></li><li><span class="TLline"><a href="/medgen/869731" ref="tree=MeSH" title="MedGen record for Aplasia/Hypoplasia involving the nose">Aplasia/Hypoplasia involving the nose</a></span></li><li><span class="TLline"><a href="/medgen/573379" ref="tree=MeSH" title="MedGen record for Fractured nose">Fractured nose</a></span></li><li><span class="TLline"><a href="/medgen/866718" ref="tree=MeSH" title="MedGen record for Fullness of paranasal tissue">Fullness of paranasal tissue</a></span></li><li><span class="TLline"><a href="/medgen/326583" ref="tree=MeSH" title="MedGen record for Long nose">Long nose</a></span></li><li><span class="TLline"><a href="/medgen/870948" ref="tree=MeSH" title="MedGen record for Midline defect of the nose">Midline defect of the nose</a></span></li><li><span class="TLline"><a href="/medgen/98086" ref="tree=MeSH" title="MedGen record for Narrow nose">Narrow nose</a></span></li><li><span class="TLline"><a href="/medgen/371575" ref="tree=MeSH" title="MedGen record for Nasal dermoid cyst">Nasal dermoid cyst</a></span></li><li><span class="TLline"><a href="/medgen/377912" ref="tree=MeSH" title="MedGen record for Pear-shaped nose">Pear-shaped nose</a></span></li><li><span class="TLline"><a href="/medgen/1684306" ref="tree=MeSH" title="MedGen record for Proboscis">Proboscis</a></span></li><li><span class="TLline"><a href="/medgen/98423" ref="tree=MeSH" title="MedGen record for Prominent nose">Prominent nose</a></span></li><li><span class="TLline"><a href="/medgen/825835" ref="tree=MeSH" title="MedGen record for Pyriform aperture stenosis">Pyriform aperture stenosis</a></span></li><li><span class="TLline"><a href="/medgen/343052" ref="tree=MeSH" title="MedGen record for Short nose">Short nose</a></span></li><li><span class="TLline"><a href="/medgen/347514" ref="tree=MeSH" title="MedGen record for Slender nose">Slender nose</a></span></li><li><span class="TLline"><a href="/medgen/140869" ref="tree=MeSH" title="MedGen record for Wide nose">Wide nose</a></span></li></ul></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><ul><li><span class="TLline"><a href="/medgen/355725" ref="tree=MeSH" title="MedGen record for Prominent nasolabial fold">Prominent nasolabial fold</a></span></li><li><span class="TLline"><a href="/medgen/866872" ref="tree=MeSH" title="MedGen record for Underdeveloped nasolabial fold">Underdeveloped nasolabial fold</a></span></li></ul></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><ul><li><span class="TLline"><a href="/medgen/382012" ref="tree=MeSH" title="MedGen record for Allergic rhinitis">Allergic rhinitis</a></span></li><li><span class="TLline"><a href="/medgen/48450" ref="tree=MeSH" title="MedGen record for Atrophic rhinitis">Atrophic rhinitis</a></span></li><li><span class="TLline"><a href="/medgen/3086" ref="tree=MeSH" title="MedGen record for Chronic rhinitis">Chronic rhinitis</a></span></li><li><span class="TLline"><a href="/medgen/3179" ref="tree=MeSH" title="MedGen record for Common cold">Common cold</a></span></li><li><span class="TLline"><a href="/medgen/11229" ref="tree=MeSH" title="MedGen record for Vasomotor rhinitis">Vasomotor rhinitis</a></span></li></ul></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><ul><li><span class="TLline"><a href="/medgen/893067" ref="tree=MeSH" title="MedGen record for Abnormal ocular adnexa morphology">Abnormal ocular adnexa morphology</a></span></li><li><span class="TLline"><a href="/medgen/1670989" ref="tree=MeSH" title="MedGen record for Abnormal ocular adnexa physiology">Abnormal ocular adnexa physiology</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/56359" ref="tree=MeSH" title="MedGen record for Orbital cyst">Orbital cyst</a></span><ul><li><span class="TLline"><a href="/medgen/892669" ref="tree=MeSH" title="MedGen record for Periorbital dermoid cyst">Periorbital dermoid cyst</a></span></li></ul></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><ul><li><span class="TLline"><a href="/medgen/333982" ref="tree=MeSH" title="MedGen record for Prominent supraorbital ridges">Prominent supraorbital ridges</a></span></li><li><span class="TLline"><a href="/medgen/349384" ref="tree=MeSH" title="MedGen record for Underdeveloped supraorbital ridges">Underdeveloped supraorbital ridges</a></span></li></ul></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><ul><li><span class="TLline"><a href="/medgen/57877" ref="tree=MeSH" title="MedGen record for Palpebral edema">Palpebral edema</a></span></li></ul></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></ul></li></ul></li></ul></li></ul></div></div></div></div>
</div>
<div class="portlet mgSection" id="ID_112">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Conditions_with_this_feature">Conditions with this feature</h1><a sid="112" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln clinfeat">
<div class="divPopper rprt" id="rdis_82666"><div><strong>Atrophoderma vermiculatum</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>82666</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.">C0263429</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Atrophoderma vermiculata, a form of keratosis pilaris atrophicans, typically presents in childhood with erythema and follicular keratotic papules that slowly progress to characteristic atrophy, which has been described as worm-eaten, reticular, or honeycomb, and occurs on the cheeks, preauricular area, and forehead. More rarely, the atrophy may extend to the upper lip, helices, ear lobes, and, in some cases, the limbs. The degree of inflammation, the presence of milia, and the extent of follicular plugs are variable (summary by Luria and Conologue, 2009).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/82666">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_90946"><div><strong>Nasal bones, absence of</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>90946</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.">C0339851</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove nowrap">See: <a href="/medgen/90946">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_98478"><div><strong>Mesomelic dwarfism, Nievergelt type</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>98478</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.">C0432231</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">A rare primary bone dysplasia characterized by severe mesomelic shortness particularly of the lower limbs with distinctive triangular or rhomboid-shaped tibiae and fibulae, accompanied by bony protuberances and skin dimples. Additional manifestations include radioulnar synostosis, dislocation of the radial head, abnormalities of the hands (such as oligosyndactyly or fusiform-shaped fingers) and feet (pes equinovarus, synostoses of tarsals/metatarsals and phalanges), and dysmorphic facial features.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/98478">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_220945"><div><strong>Deficiency of aromatic-L-amino-acid decarboxylase</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>220945</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.">C1291564</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Individuals with aromatic L-amino acid decarboxylase (AADC) deficiency typically have complex symptoms, including motor, behavioral, cognitive, and autonomic findings. Symptom onset is in early infancy, typically within the first six months of life. The most common initial symptoms are often nonspecific, and include feeding difficulties, hypotonia, and developmental delay. More specific symptoms include oculogyric crises (which occur in the vast majority of affected individuals, typically starting in infancy), movement disorders (especially dystonia), and autonomic dysfunction (excessive sweating, temperature instability, ptosis, nasal congestion, hypoglycemic episodes). Sleep disturbance is present in a majority of affected individuals and can include insomnia, hypersomnia, or both. Mood disturbance, including irritability and anxiety, are also common. Brain MRI is typically either normal or may demonstrate nonspecific abnormalities, such as mild diffuse cerebral atrophy or delayed myelination. Seizures are an uncommon finding, occurring in fewer than 5% of affected individuals.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/220945">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_322025"><div><strong>Fallot complex-intellectual disability-growth delay syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>322025</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.">C1832735</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">A rare disorder characterised by tetralogy of Fallot, minor facial anomalies, and severe intellectual deficiency and growth delay. Dysmorphic features include large, protruding, abnormally modelled ears and broad nasal root. Microcephaly and syndactyly of second and third toes have also been recorded. All patients have severe intellectual deficiency. The condition is transmitted as an autosomal recessive trait.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/322025">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_318860"><div><strong>Orofacial cleft 3</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>318860</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.">C1833369</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/318860">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_322400"><div><strong>Nasal groove, familial transverse</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>322400</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.">C1834370</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/322400">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_331728"><div><strong>Nasal alar collapse, bilateral</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>331728</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.">C1834371</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/331728">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_337979"><div><strong>Osteopenia-intellectual disability-sparse hair syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>337979</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.">C1850140</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">A rare syndrome described in two sisters of Mennonite descent, with characteristics of sparse hair, osteopenia, intellectual disability, minor facial abnormalities, joint laxity and hypotonia. There have been no further descriptions in the literature since 1992.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/337979">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_340697"><div><strong>Laurin-Sandrow syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>340697</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.">C1851100</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Laurin-Sandrow syndrome (LSS) is an autosomal dominant disorder characterized by polysyndactyly of hands and feet, mirror image duplication of feet, and nasal defects (hypoplastic alae nasi, short columella), in connection with absent patella and duplicated fibula (summary by Lohan et al., 2014).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/340697">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_338837"><div><strong>Dwarfism, Levi type</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>338837</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.">C1851994</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/338837">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_396307"><div><strong>Brachmann-de Lange-like facial changes with microcephaly, metatarsus adductus, and developmental delay</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>396307</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.">C1862171</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/396307">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_419413"><div><strong>Infantile-onset ascending hereditary spastic paralysis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>419413</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.">C2931441</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">ALS2-related disorder involves retrograde degeneration of the upper motor neurons of the pyramidal tracts and comprises a clinical continuum of the following three phenotypes: Infantile ascending hereditary spastic paraplegia (IAHSP), characterized by onset of spasticity with increased reflexes and sustained clonus of the lower limbs within the first two years of life, progressive weakness and spasticity of the upper limbs by age seven to eight years, and wheelchair dependence in the second decade with progression toward severe spastic tetraparesis and a pseudobulbar syndrome caused by progressive cranial nerve involvement. Juvenile primary lateral sclerosis (JPLS), characterized by upper motor neuron findings of pseudobulbar palsy and spastic quadriplegia without dementia or cerebellar, extrapyramidal, or sensory signs. Juvenile amyotrophic lateral sclerosis (JALS or ALS2), characterized by onset between ages three and 20 years. All affected individuals show a spastic pseudobulbar syndrome (spasticity of speech and swallowing) together with spastic paraplegia. Some individuals are bedridden by age 12 to 50 years.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/419413">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_477139"><div><strong>Multiple congenital anomalies-hypotonia-seizures syndrome 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>477139</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C3275508</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Multiple congenital anomalies-hypotonia-seizures syndrome-2 (MCAHS2) is an X-linked recessive neurodevelopmental disorder characterized by dysmorphic features, neonatal hypotonia, early-onset myoclonic seizures, and variable congenital anomalies involving the central nervous, cardiac, and urinary systems. Some affected individuals die in infancy (summary by Johnston et al., 2012). The phenotype shows clinical variability with regard to severity and extraneurologic features. However, most patients present in infancy with early-onset epileptic encephalopathy associated with developmental arrest and subsequent severe neurologic disability; these features are consistent with a form of developmental and epileptic encephalopathy (DEE) (summary by Belet et al., 2014, Kato et al., 2014). The disorder is caused by a defect in glycosylphosphatidylinositol (GPI) biosynthesis.&#13; For a discussion of genetic heterogeneity of MCAHS, see MCAHS1 (614080).&#13; For a discussion of nomenclature and genetic heterogeneity of DEE, see 308350.&#13; For a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 (610293).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/477139">Condition Record</a></div></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_82666" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Atrophoderma vermiculatum</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_396307" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Brachmann-de Lange-like facial changes with microcephaly, metatarsus adductus, and developmental delay</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_220945" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Deficiency of aromatic-L-amino-acid decarboxylase</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_338837" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Dwarfism, Levi type</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_322025" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Fallot complex-intellectual disability-growth delay syndrome</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (14)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_419413" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Infantile-onset ascending hereditary spastic paralysis</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_340697" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Laurin-Sandrow syndrome</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_98478" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mesomelic dwarfism, Nievergelt type</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_477139" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Multiple congenital anomalies-hypotonia-seizures syndrome 2</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_331728" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Nasal alar collapse, bilateral</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_90946" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Nasal bones, absence of</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_322400" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Nasal groove, familial transverse</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_318860" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Orofacial cleft 3</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_337979" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Osteopenia-intellectual disability-sparse hair syndrome</a></div></span></div></div>
</div>
<div class="portlet mgSection" id="ID_105">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
<div class="nl"><a target="_blank" href="/pubmed/37166753">Keratosis pilaris: an update and approach to management.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Kodali N,
Patel VM,
Schwartz RA</span><br />
<span class="medgenPMjournal">Ital J Dermatol Venerol</span>
2023 Jun;158(3):217-223.
Epub 2023 May 11
doi: 10.23736/S2784-8671.23.07594-1.
<span class="bold">PMID: </span><a href="/pubmed/37166753" target="_blank">37166753</a></div>
<div class="nl"><a target="_blank" href="/pubmed/34399110">Updated International Tuberous Sclerosis Complex Diagnostic Criteria and Surveillance and Management Recommendations.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Northrup H,
Aronow ME,
Bebin EM,
Bissler J,
Darling TN,
de Vries PJ,
Frost MD,
Fuchs Z,
Gosnell ES,
Gupta N,
Jansen AC,
Jóźwiak S,
Kingswood JC,
Knilans TK,
McCormack FX,
Pounders A,
Roberds SL,
Rodriguez-Buritica DF,
Roth J,
Sampson JR,
Sparagana S,
Thiele EA,
Weiner HL,
Wheless JW,
Towbin AJ,
Krueger DA;
International Tuberous Sclerosis Complex Consensus Group</span><br />
<span class="medgenPMjournal">Pediatr Neurol</span>
2021 Oct;123:50-66.
Epub 2021 Jul 24
doi: 10.1016/j.pediatrneurol.2021.07.011.
<span class="bold">PMID: </span><a href="/pubmed/34399110" target="_blank">34399110</a></div>
<div class="nl"><a target="_blank" href="/pubmed/8480709">Facial keys to orthodontic diagnosis and treatment planning--Part II.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Arnett GW,
Bergman RT</span><br />
<span class="medgenPMjournal">Am J Orthod Dentofacial Orthop</span>
1993 May;103(5):395-411.
doi: 10.1016/s0889-5406(05)81791-3.
<span class="bold">PMID: </span><a href="/pubmed/8480709" target="_blank">8480709</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(abnormality%20of%20the%20face)%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 (848)</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/38117302">Delineation of the adult phenotype of Coffin-Siris syndrome in 35 individuals.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Schmetz A,
Lüdecke HJ,
Surowy H,
Sivalingam S,
Bruel AL,
Caumes R,
Charles P,
Chatron N,
Chrzanowska K,
Codina-Solà M,
Colson C,
Cuscó I,
Denommé-Pichon AS,
Edery P,
Faivre L,
Green A,
Heide S,
Hsieh TC,
Hustinx A,
Kleinendorst L,
Knopp C,
Kraft F,
Krawitz PM,
Lasa-Aranzasti A,
Lesca G,
López-González V,
Maraval J,
Mignot C,
Neuhann T,
Netzer C,
Oehl-Jaschkowitz B,
Petit F,
Philippe C,
Posmyk R,
Putoux A,
Reis A,
Sánchez-Soler MJ,
Suh J,
Tkemaladze T,
Tran Mau Them F,
Travessa A,
Trujillano L,
Valenzuela I,
van Haelst MM,
Vasileiou G,
Vincent-Delorme C,
Walther M,
Verde P,
Bramswig NC,
Wieczorek D</span><br />
<span class="medgenPMjournal">Hum Genet</span>
2024 Jan;143(1):71-84.
Epub 2023 Dec 20
doi: 10.1007/s00439-023-02622-5.
<span class="bold">PMID: </span><a href="/pubmed/38117302" target="_blank">38117302</a></div>
<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,
Drivas TG,
Schrier Vergano SA</span><br />
<span class="medgenPMjournal">Genes (Basel)</span>
2021 Jun 19;12(6)
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>
<div class="nl"><a target="_blank" href="/pubmed/31587141">Kabuki syndrome: review of the clinical features, diagnosis and epigenetic mechanisms.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Wang YR,
Xu NX,
Wang J,
Wang XM</span><br />
<span class="medgenPMjournal">World J Pediatr</span>
2019 Dec;15(6):528-535.
Epub 2019 Oct 5
doi: 10.1007/s12519-019-00309-4.
<span class="bold">PMID: </span><a href="/pubmed/31587141" target="_blank">31587141</a></div>
<div class="nl"><a target="_blank" href="/pubmed/23128006">Cosmetic maxillofacial surgery.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Fattahi T,
Bolding SL,
Griffin JE Jr,
Owsley TG</span><br />
<span class="medgenPMjournal">J Oral Maxillofac Surg</span>
2012 Nov;70(11 Suppl 3):e310-30.
doi: 10.1016/j.joms.2012.07.039.
<span class="bold">PMID: </span><a href="/pubmed/23128006" target="_blank">23128006</a></div>
<div class="nl"><a target="_blank" href="/pubmed/19125436">Elements of morphology: standard terminology for the head and face.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Allanson JE,
Cunniff C,
Hoyme HE,
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%20face%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 (7982)</a></div><h3 class="subhead">Diagnosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/37052010">A newborn with coffin-siris syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Cui L,
Jin X</span><br />
<span class="medgenPMjournal">J Pak Med Assoc</span>
2023 Apr;73(4):896-900.
doi: 10.47391/JPMA.5157.
<span class="bold">PMID: </span><a href="/pubmed/37052010" target="_blank">37052010</a></div>
<div class="nl"><a target="_blank" href="/pubmed/33795464">Ear Abnormalities.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Bhatti SL,
Daly LT,
Mejia M,
Perlyn C</span><br />
<span class="medgenPMjournal">Pediatr Rev</span>
2021 Apr;42(4):180-188.
doi: 10.1542/pir.2019-0167.
<span class="bold">PMID: </span><a href="/pubmed/33795464" target="_blank">33795464</a></div>
<div class="nl"><a target="_blank" href="/pubmed/23354442">Proboscis lateralis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Martin S,
Hogan E,
Sorenson EP,
Cohen-Gadol AA,
Tubbs RS,
Loukas M</span><br />
<span class="medgenPMjournal">Childs Nerv Syst</span>
2013 Jun;29(6):885-91.
Epub 2013 Jan 25
doi: 10.1007/s00381-012-1989-0.
<span class="bold">PMID: </span><a href="/pubmed/23354442" target="_blank">23354442</a></div>
<div class="nl"><a target="_blank" href="/pubmed/3543368">Noonan syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Allanson JE</span><br />
<span class="medgenPMjournal">J Med Genet</span>
1987 Jan;24(1):9-13.
doi: 10.1136/jmg.24.1.9.
<span class="bold">PMID: </span><a href="/pubmed/3543368" target="_blank">3543368</a><a href="/pmc/articles/PMC1049850" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/3312608">Rubinstein-Taybi syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Berry AC</span><br />
<span class="medgenPMjournal">J Med Genet</span>
1987 Sep;24(9):562-6.
doi: 10.1136/jmg.24.9.562.
<span class="bold">PMID: </span><a href="/pubmed/3312608" target="_blank">3312608</a><a href="/pmc/articles/PMC1050269" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormality%20of%20the%20face%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 (8308)</a></div><h3 class="subhead">Therapy</h3>
<div class="nl"><a target="_blank" href="/pubmed/31778553">Keratosis Pilaris.</a></div>
<div class="portlet_content ln"><span class="medgenPMjournal">Pediatr Dermatol</span>
2019 Nov;36(6):937-938.
doi: 10.1111/pde.14062.
<span class="bold">PMID: </span><a href="/pubmed/31778553" target="_blank">31778553</a></div>
<div class="nl"><a target="_blank" href="/pubmed/30851750">State-of-the-Art Hypertelorism Management.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Shakir S,
Hoppe IC,
Taylor JA</span><br />
<span class="medgenPMjournal">Clin Plast Surg</span>
2019 Apr;46(2):185-195.
Epub 2019 Jan 9
doi: 10.1016/j.cps.2018.11.004.
<span class="bold">PMID: </span><a href="/pubmed/30851750" target="_blank">30851750</a></div>
<div class="nl"><a target="_blank" href="/pubmed/8544193">Fetal valproate syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Clayton-Smith J,
Donnai D</span><br />
<span class="medgenPMjournal">J Med Genet</span>
1995 Sep;32(9):724-7.
doi: 10.1136/jmg.32.9.724.
<span class="bold">PMID: </span><a href="/pubmed/8544193" target="_blank">8544193</a><a href="/pmc/articles/PMC1051674" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/235422">The teratogenic risk of antiepileptic drugs.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Janz D</span><br />
<span class="medgenPMjournal">Epilepsia</span>
1975 Mar;16(1):159-69.
doi: 10.1111/j.1528-1157.1975.tb04732.x.
<span class="bold">PMID: </span><a href="/pubmed/235422" target="_blank">235422</a></div>
<div class="nl"><a target="_blank" href="/pubmed/4835278">Orofacial malformations.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Poswillo DE</span><br />
<span class="medgenPMjournal">Proc R Soc Med</span>
1974 May;67(5):343-9.
<span class="bold">PMID: </span><a href="/pubmed/4835278" target="_blank">4835278</a><a href="/pmc/articles/PMC1645559" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormality%20of%20the%20face%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 (3148)</a></div><h3 class="subhead">Prognosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/37603894">Median Cleft Lip.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Menderes A,
Ateşşahin FB,
Babahan T,
Terzi M,
Atalmiş SE,
Çağli HB</span><br />
<span class="medgenPMjournal">J Craniofac Surg</span>
2023 Nov-Dec 01;34(8):e780-e781.
Epub 2023 Aug 21
doi: 10.1097/SCS.0000000000009647.
<span class="bold">PMID: </span><a href="/pubmed/37603894" target="_blank">37603894</a></div>
<div class="nl"><a target="_blank" href="/pubmed/20920258">Acro-cardio-facial syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Digilio MC,
Dallapiccola B</span><br />
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
2010 Sep 29;5:25.
doi: 10.1186/1750-1172-5-25.
<span class="bold">PMID: </span><a href="/pubmed/20920258" target="_blank">20920258</a><a href="/pmc/articles/PMC2955584" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/8617541">Congenital contractural arachnodactyly.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Kulkarni ML,
Kumar CS,
Venkataramana V,
George VG,
Bhagyavathi M</span><br />
<span class="medgenPMjournal">Indian Pediatr</span>
1995 Jan;32(1):82-7.
<span class="bold">PMID: </span><a href="/pubmed/8617541" target="_blank">8617541</a></div>
<div class="nl"><a target="_blank" href="/pubmed/5411997">The prognosis of encephaloceles.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Mealey J Jr,
Dzenitis AJ,
Hockey AA</span><br />
<span class="medgenPMjournal">J Neurosurg</span>
1970 Feb;32(2):209-18.
doi: 10.3171/jns.1970.32.2.0209.
<span class="bold">PMID: </span><a href="/pubmed/5411997" target="_blank">5411997</a></div>
<div class="nl"><a target="_blank" href="/pubmed/14339244">RARE CLEFTS OF THE FACE.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">FOGH-ANDERSEN P</span><br />
<span class="medgenPMjournal">Acta Chir Scand</span>
1965 Mar;129:275-81.
<span class="bold">PMID: </span><a href="/pubmed/14339244" target="_blank">14339244</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormality%20of%20the%20face%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 (3867)</a></div><h3 class="subhead">Clinical prediction guides</h3>
<div class="nl"><a target="_blank" href="/pubmed/37158694">Molecular insights of KMT2D and clinical aspects of Kabuki syndrome type 1.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Golden CS,
Williams S,
Serrano MA</span><br />
<span class="medgenPMjournal">Birth Defects Res</span>
2023 Nov 15;115(19):1809-1824.
Epub 2023 May 9
doi: 10.1002/bdr2.2183.
<span class="bold">PMID: </span><a href="/pubmed/37158694" target="_blank">37158694</a><a href="/pmc/articles/PMC10845236" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/32658997">The human face: genes, embryological development and dysmorphology.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Bhat M</span><br />
<span class="medgenPMjournal">Int J Dev Biol</span>
2020;64(4-5-6):383-391.
doi: 10.1387/ijdb.190312mb.
<span class="bold">PMID: </span><a href="/pubmed/32658997" target="_blank">32658997</a></div>
<div class="nl"><a target="_blank" href="/pubmed/17163996">KBG syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Brancati F,
Sarkozy A,
Dallapiccola B</span><br />
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
2006 Dec 12;1:50.
doi: 10.1186/1750-1172-1-50.
<span class="bold">PMID: </span><a href="/pubmed/17163996" target="_blank">17163996</a><a href="/pmc/articles/PMC1764006" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/16939648">Congenital cataracts-facial dysmorphism-neuropathy.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Kalaydjieva L</span><br />
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
2006 Aug 29;1:32.
doi: 10.1186/1750-1172-1-32.
<span class="bold">PMID: </span><a href="/pubmed/16939648" target="_blank">16939648</a><a href="/pmc/articles/PMC1563997" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/6258433">The Dubowitz syndrome: further observations.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Orrison WW,
Schnitzler ER,
Chun RW</span><br />
<span class="medgenPMjournal">Am J Med Genet</span>
1980;7(2):155-70.
doi: 10.1002/ajmg.1320070209.
<span class="bold">PMID: </span><a href="/pubmed/6258433" target="_blank">6258433</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormality%20of%20the%20face%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 (5037)</a></div></div>
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<div class="nl"><a target="_blank" href="/pubmed/37054911">TFOS Lifestyle: Impact of lifestyle challenges on the ocular surface.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Galor A,
Britten-Jones AC,
Feng Y,
Ferrari G,
Goldblum D,
Gupta PK,
Merayo-Lloves J,
Na KS,
Naroo SA,
Nichols KK,
Rocha EM,
Tong L,
Wang MTM,
Craig JP</span><br />
<span class="medgenPMjournal">Ocul Surf</span>
2023 Apr;28:262-303.
Epub 2023 Apr 11
doi: 10.1016/j.jtos.2023.04.008.
<span class="bold">PMID: </span><a href="/pubmed/37054911" target="_blank">37054911</a></div>
<div class="nl"><a target="_blank" href="/pubmed/36253866">Orthodontic and dentofacial orthopedic treatments in patients with ectodermal dysplasia: a systematic review.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Cerezo-Cayuelas M,
Pérez-Silva A,
Serna-Muñoz C,
Vicente A,
Martínez-Beneyto Y,
Cabello-Malagón I,
Ortiz-Ruiz AJ</span><br />
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
2022 Oct 17;17(1):376.
doi: 10.1186/s13023-022-02533-0.
<span class="bold">PMID: </span><a href="/pubmed/36253866" target="_blank">36253866</a><a href="/pmc/articles/PMC9575248" 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>
<div class="portlet_content ln"><span class="medgenPMauthor">Maghfour J,
Ly S,
Haidari W,
Taylor SL,
Feldman SR</span><br />
<span class="medgenPMjournal">J Dermatolog Treat</span>
2022 May;33(3):1231-1242.
Epub 2020 Sep 14
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/30721300">Will This Patient Be Difficult to Intubate?: The Rational Clinical Examination Systematic Review.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Detsky ME,
Jivraj N,
Adhikari NK,
Friedrich JO,
Pinto R,
Simel DL,
Wijeysundera DN,
Scales DC</span><br />
<span class="medgenPMjournal">JAMA</span>
2019 Feb 5;321(5):493-503.
doi: 10.1001/jama.2018.21413.
<span class="bold">PMID: </span><a href="/pubmed/30721300" target="_blank">30721300</a></div>
<div class="nl"><a target="_blank" href="/pubmed/29761867">Airway physical examination tests for detection of difficult airway management in apparently normal adult patients.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Roth D,
Pace NL,
Lee A,
Hovhannisyan K,
Warenits AM,
Arrich J,
Herkner H</span><br />
<span class="medgenPMjournal">Cochrane Database Syst Rev</span>
2018 May 15;5(5):CD008874.
doi: 10.1002/14651858.CD008874.pub2.
<span class="bold">PMID: </span><a href="/pubmed/29761867" target="_blank">29761867</a><a href="/pmc/articles/PMC6404686" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormality%20of%20the%20face%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 (185)</a></div></div>
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<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(abnormality%20of%20the%20face)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li><li><a target="_blank" href="/books/?term=((%22clinical%20guidelines%22%5BResource%20Type%5D)%20OR%20%22practice%20guideline%22%5BPublication%20Type%5D)%20AND%20(%22Abnormality%20of%20the%20face%22)">Bookshelf</a><div class="help-popup">See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul></div>
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