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<meta name="keywords" content="C0022738, autosomal dominant klippel-feil syndrome, bonnevie-ullrich and klippel-feil syndrome, cervical c2/c3 vertebral fusion, cervical fusion syndrome, cervical vertebral fusion, cervical vertebral fusion autosomal dominant, cervical vertebral fusion autosomal recessive, cervical vertebral fusion syndrome, congenital dystrophia brevicollis, congenital synostosis of cervical vertebrae, disease or syndrome, dystrophia brevicollis congenita, dystrophia brevicollis congenitas, fusion of cervical vertebrae c2-3, kfs - klippel-feil syndrome, klippel feil syndrome, klippel feil syndrome autosomal dominant, klippel-feil and turner syndrome, klippel-feil anomaly, klippel-feil deformity, klippel-feil deformity, deafness and facial asymmetry, klippel-feil sequence, klippel-feil syndrome, nielsen's disease, syndrome, klippel-feil, vertebral cervical fusion syndrome, 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="Klippel-Feil syndrome (KFS) is a congenital anomaly characterized by a defect in the formation or segmentation of the cervical vertebrae, resulting in a fused appearance. The clinical triad consists of short neck, low posterior hairline, and limited neck movement, although less than 50% of patients demonstrate all 3 clinical features (Tracy et al., 2004). Genetic Heterogeneity of Klippel-Feil Syndrome Additional forms of KFS include autosomal recessive KFS2 (214300), caused by mutation in the MEOX1 gene (600147) on chromosome 17q21, autosomal dominant KFS3 (613702), caused by mutation in the GDF3 gene (606522) on chromosome 12p13, and autosomal recessive KFS4 (616549), caused by mutation in the MYO18B gene (607295) on chromosome 22q12. See also MURCS association (601076), in which Klippel-Feil anomaly is associated with urogenital anomalies." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
|
||
UID=9645
|
||
ConceptID=C0022738
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Klippel-Feil syndrome</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>9645</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.">C0022738</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>Cervical C2/C3 vertebral fusion; Cervical vertebral fusion autosomal dominant; Cervical vertebral fusion autosomal recessive; Klippel Feil syndrome autosomal dominant</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Klippel-Feil sequence (5601008); Klippel-Feil syndrome (5601008); Klippel-Feil deformity (5601008); Cervical vertebral fusion syndrome (5601008); Cervical vertebral fusion (5601008); Cervical fusion syndrome (5601008); KFS - Klippel-Feil syndrome (5601008); Congenital dystrophia brevicollis (388981000); Nielsen's disease (388981000); Bonnevie-Ullrich and Klippel-Feil syndrome (388981000)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td><a class="help" data-jig="ncbipopper" href="#target-gene-related">Related genes:<img src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div id="target-gene-related" class="display-none">
|
||
Gene(s) associated with related conditions. For conditions<br />
|
||
in a hierarchy, the parent condition will list the genes<br />
|
||
associated with the children conditions.</div></td>
|
||
<td><a target="_blank" href="/gene/392255">GDF6</a>, <a target="_blank" href="/gene/84700">MYO18B</a>, <a target="_blank" href="/gene/9573">GDF3</a>, <a target="_blank" href="/gene/4222">MEOX1</a></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:0004602">HP:0004602</a></td></tr>
|
||
<tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0001029" target="_blank">MONDO:0001029</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span> Phenotypic series:</td>
|
||
<td><a href="https://omim.org/phenotypicSeries/PS118100" target="_blank">PS118100</a></td></tr>
|
||
</tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
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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">Klippel-Feil syndrome (KFS) is a congenital anomaly characterized by a defect in the formation or segmentation of the cervical vertebrae, resulting in a fused appearance. The clinical triad consists of short neck, low posterior hairline, and limited neck movement, although less than 50% of patients demonstrate all 3 clinical features (Tracy et al., 2004). Genetic Heterogeneity of Klippel-Feil Syndrome Additional forms of KFS include autosomal recessive KFS2 (214300), caused by mutation in the MEOX1 gene (600147) on chromosome 17q21, autosomal dominant KFS3 (613702), caused by mutation in the GDF3 gene (606522) on chromosome 12p13, and autosomal recessive KFS4 (616549), caused by mutation in the MYO18B gene (607295) on chromosome 22q12. See also MURCS association (601076), in which Klippel-Feil anomaly is associated with urogenital anomalies. [from <a title="Online Mendelian Inheritance in Man" href="http://www.omim.org" class="defSource" target="_blank">OMIM</a>]</div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_117">
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||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Additional_description">Additional description</h1><a sid="117" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><div class="mgSection"><strong>From MedlinePlus Genetics</strong><br />Klippel-Feil syndrome is a bone disorder characterized by the abnormal joining (fusion) of two or more spinal bones in the neck (cervical vertebrae). The vertebral fusion is present from birth. Three major features result from this vertebral fusion: a short neck, the resulting appearance of a low hairline at the back of the head, and a limited range of motion in the neck. Most affected people have one or two of these characteristic features. Less than half of all individuals with Klippel-Feil syndrome have all three classic features of this condition.<br /><br />In people with Klippel-Feil syndrome, the fused vertebrae can limit the range of movement of the neck and back as well as lead to chronic headaches and muscle pain in the neck and back that range in severity. People with minimal bone involvement often have fewer problems compared to individuals with several vertebrae affected. The shortened neck can cause a slight difference in the size and shape of the right and left sides of the face (facial asymmetry). Trauma to the spine, such as a fall or car accident, can aggravate problems in the fused area. Fusion of the vertebrae can lead to nerve damage in the head, neck, or back. Over time, individuals with Klippel-Feil syndrome can develop a narrowing of the spinal canal (spinal stenosis) in the neck, which can compress and damage the spinal cord. Rarely, spinal nerve abnormalities may cause abnormal sensations or involuntary movements in people with Klippel-Feil syndrome. Affected individuals may develop a painful joint disorder called osteoarthritis around the areas of fused bone or experience painful involuntary tensing of the neck muscles (cervical dystonia). In addition to the fused cervical bones, people with this condition may have abnormalities in other vertebrae. Many people with Klippel-Feil syndrome have abnormal side-to-side curvature of the spine (scoliosis) due to malformation of the vertebrae; fusion of additional vertebrae below the neck may also occur.<br /><br />People with Klippel-Feil syndrome may have a wide variety of other features in addition to their spine abnormalities. Some people with this condition have hearing difficulties, eye abnormalities, an opening in the roof of the mouth (cleft palate), genitourinary problems such as abnormal kidneys or reproductive organs, heart abnormalities, or lung defects that can cause breathing problems. Affected individuals may have other skeletal defects including arms or legs of unequal length (limb length discrepancy), which can result in misalignment of the hips or knees. Additionally, the shoulder blades may be underdeveloped so that they sit abnormally high on the back, a condition called Sprengel deformity. Rarely, structural brain abnormalities or a type of birth defect that occurs during the development of the brain and spinal cord (neural tube defect) can occur in people with Klippel-Feil syndrome.<br /><br />In some cases, Klippel-Feil syndrome occurs as a feature of another disorder or syndrome, such as Wildervanck syndrome or hemifacial microsomia. In these instances, affected individuals have the signs and symptoms of both Klippel-Feil syndrome and the additional disorder. <a target="_blank" href="https://medlineplus.gov/genetics/condition/klippel-feil-syndrome">https://medlineplus.gov/genetics/condition/klippel-feil-syndrome</a></div></div>
|
||
</div>
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||
|
||
<div class="portlet mgSection" id="ID_118">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0022738[DISCUI]&test_type=Clinical" ref="ncbi_uid=9645">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=9645" ref="ncbi_uid=9645">V</a></span></span><span class="TLline">Klippel-Feil syndrome</span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/980916" ref="tree=GTR&ncbi_uid=980916&link_uid=980916" title="View MedGen record for 'Isolated Klippel-Feil syndrome'">Isolated Klippel-Feil syndrome</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C4225285[DISCUI]&test_type=Clinical" ref="ncbi_uid=894399">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=894399" target="_blank" href="/omim/607295">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=894399" ref="ncbi_uid=894399">V</a></span></span><span class="TLline"><a href="/medgen/894399" ref="tree=GTR&ncbi_uid=894399&link_uid=894399" title="View MedGen record for 'Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome'">Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1861689[DISCUI]&test_type=Clinical" ref="ncbi_uid=396196">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=396196" target="_blank" href="/omim/118100">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=396196" ref="ncbi_uid=396196">V</a></span></span><span class="TLline"><a href="/medgen/396196" ref="tree=GTR&ncbi_uid=396196&link_uid=396196" title="View MedGen record for 'Klippel-Feil syndrome 1, autosomal dominant'">Klippel-Feil syndrome 1, autosomal dominant</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1859209[DISCUI]&test_type=Clinical" ref="ncbi_uid=395201">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=395201" target="_blank" href="/omim/214300">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=395201" ref="ncbi_uid=395201">V</a></span></span><span class="TLline"><a href="/medgen/395201" ref="tree=GTR&ncbi_uid=395201&link_uid=395201" title="View MedGen record for 'Klippel-Feil syndrome 2, autosomal recessive'">Klippel-Feil syndrome 2, autosomal recessive</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3150967[DISCUI]&test_type=Clinical" ref="ncbi_uid=462317">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=462317" target="_blank" href="/omim/606522">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=462317" ref="ncbi_uid=462317">V</a></span></span><span class="TLline"><a href="/medgen/462317" ref="tree=GTR&ncbi_uid=462317&link_uid=462317" title="View MedGen record for 'Klippel-Feil syndrome 3, autosomal dominant'">Klippel-Feil syndrome 3, autosomal dominant</a></span></li></ul></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/867443" ref="tree=MeSH" title="MedGen record for Phenotypic abnormality">Phenotypic abnormality</a></span><ul><li><span class="TLline"><a href="/medgen/871309" ref="tree=MeSH" title="MedGen record for Abnormality of prenatal development or birth">Abnormality of prenatal development or birth</a></span><ul><li><span class="TLline"><a href="/medgen/1254" ref="tree=MeSH" title="MedGen record for Fetal anomaly">Fetal anomaly</a></span><ul><li><span class="TLline"><a href="/medgen/474891" ref="tree=MeSH" title="MedGen record for Congenital Systemic Disorder">Congenital Systemic Disorder</a></span><ul><li><span class="TLline"><a href="/medgen/57466" ref="tree=MeSH" title="MedGen record for Congenital anomaly of musculoskeletal system">Congenital anomaly of musculoskeletal system</a></span><ul><li><span class="matched_ds">Klippel-Feil syndrome</span><ul><li><span class="TLline"><a href="/medgen/980916" ref="tree=MeSH" title="MedGen record for Isolated Klippel-Feil syndrome">Isolated Klippel-Feil syndrome</a></span></li><li><span class="TLline"><a href="/medgen/894399" ref="tree=MeSH" title="MedGen record for Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome">Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome</a></span></li><li><span class="TLline"><a href="/medgen/396196" ref="tree=MeSH" title="MedGen record for Klippel-Feil syndrome 1, autosomal dominant">Klippel-Feil syndrome 1, autosomal dominant</a></span></li><li><span class="TLline"><a href="/medgen/395201" ref="tree=MeSH" title="MedGen record for Klippel-Feil syndrome 2, autosomal recessive">Klippel-Feil syndrome 2, autosomal recessive</a></span></li><li><span class="TLline"><a href="/medgen/462317" ref="tree=MeSH" title="MedGen record for Klippel-Feil syndrome 3, autosomal dominant">Klippel-Feil syndrome 3, autosomal dominant</a></span></li></ul></li></ul></li></ul></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="divPopper rprt" id="rdis_120524"><div><strong>Holt-Oram syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>120524</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:">C0265264</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Holt-Oram syndrome (HOS) is characterized by upper-limb defects, congenital heart malformation, and cardiac conduction disease. Upper-limb malformations may be unilateral, bilateral/symmetric, or bilateral/asymmetric and can range from triphalangeal or absent thumb(s) to phocomelia. Other upper-limb malformations can include unequal arm length caused by aplasia or hypoplasia of the radius, fusion or anomalous development of the carpal and thenar bones, abnormal forearm pronation and supination, abnormal opposition of the thumb, sloping shoulders, and restriction of shoulder joint movement. An abnormal carpal bone is present in all affected individuals and may be the only evidence of disease. A congenital heart malformation is present in 75% of individuals with HOS and most commonly involves the septum. Atrial septal defect and ventricular septal defect can vary in number, size, and location. Complex congenital heart malformations can also occur in individuals with HOS. Individuals with HOS with or without a congenital heart malformation are at risk for cardiac conduction disease. While individuals may present at birth with sinus bradycardia and first-degree atrioventricular (AV) block, AV block can progress unpredictably to a higher grade including complete heart block with and without atrial fibrillation.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/120524">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_923028"><div><strong>Elsahy-Waters syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>923028</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.">C0809936</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 core phenotype of Elsahy-Waters syndrome consists of brachycephaly, facial asymmetry, marked hypertelorism, proptosis, blepharochalasis, midface hypoplasia, broad nose with concave nasal ridge, and prognathism; radicular dentin dysplasia with consequent obliterated pulp chambers, apical translucent cysts, recurrent infections, and early loss of teeth; vertebral fusions, particularly at C2-C3; and moderate mental retardation. Skin wrinkling over the glabellar region seems common, and in males, hypospadias has always been present. Inter- and intrafamilial variability has been reported regarding the presence of vertebral fusions, hearing loss, and dentigerous cysts. Midface hypoplasia, facial asymmetry, progressive dental anomalies, and impaired cognitive development become more evident in adulthood (summary by Castori et al., 2010).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/923028">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_331978"><div><strong>Leri pleonosteosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>331978</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.">C1835450</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Leri pleonosteosis is an autosomal dominant skeletal disorder characterized by flexion contractures of the interphalangeal joints, limited movement of multiple joints, and short, broad metacarpals, metatarsals, and phalanges. Additional features may include chronic joint pain, short stature, bony overgrowths, spinal cord compression, scleroderma-like skin changes, and blepharophimosis. The clinical features overlap with several other musculoskeletal conditions, including Myhre syndrome (MYHRS; 139210) and geleophysic dysplasia (GPHYSD1; 231050) (summary by Banka et al., 2015).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/331978">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_395201"><div><strong>Klippel-Feil syndrome 2, autosomal recessive</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>395201</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.">C1859209</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Klippel-Feil syndrome (KFS) is a congenital anomaly characterized by a defect in the formation or segmentation of the cervical vertebrae, resulting in a fused appearance. The clinical triad consists of short neck, low posterior hairline, and limited neck movement, although less than 50% of patients demonstrate all 3 clinical features (Tracy et al., 2004). Clarke et al. (1998) proposed a classification system for KFS in which an autosomal recessive form is characterized by the most rostral fusion at C1 and the presence of severe associated anomalies, including short neck, cardiac defects, and craniofacial anomalies. For a general description and a discussion of genetic heterogeneity of Klippel-Feil syndrome, see KFS1 (118100).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/395201">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_396196"><div><strong>Klippel-Feil syndrome 1, autosomal dominant</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>396196</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.">C1861689</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Klippel-Feil syndrome is a bone disorder characterized by the abnormal joining (fusion) of two or more spinal bones in the neck (cervical vertebrae). The vertebral fusion is present from birth. Three major features result from this vertebral fusion: a short neck, the resulting appearance of a low hairline at the back of the head, and a limited range of motion in the neck. Most affected people have one or two of these characteristic features. Less than half of all individuals with Klippel-Feil syndrome have all three classic features of this condition.\n\nIn people with Klippel-Feil syndrome, the fused vertebrae can limit the range of movement of the neck and back as well as lead to chronic headaches and muscle pain in the neck and back that range in severity. People with minimal bone involvement often have fewer problems compared to individuals with several vertebrae affected. The shortened neck can cause a slight difference in the size and shape of the right and left sides of the face (facial asymmetry). Trauma to the spine, such as a fall or car accident, can aggravate problems in the fused area. Fusion of the vertebrae can lead to nerve damage in the head, neck, or back. Over time, individuals with Klippel-Feil syndrome can develop a narrowing of the spinal canal (spinal stenosis) in the neck, which can compress and damage the spinal cord. Rarely, spinal nerve abnormalities may cause abnormal sensations or involuntary movements in people with Klippel-Feil syndrome. Affected individuals may develop a painful joint disorder called osteoarthritis around the areas of fused bone or experience painful involuntary tensing of the neck muscles (cervical dystonia). In addition to the fused cervical bones, people with this condition may have abnormalities in other vertebrae. Many people with Klippel-Feil syndrome have abnormal side-to-side curvature of the spine (scoliosis) due to malformation of the vertebrae; fusion of additional vertebrae below the neck may also occur.\n\nPeople with Klippel-Feil syndrome may have a wide variety of other features in addition to their spine abnormalities. Some people with this condition have hearing difficulties, eye abnormalities, an opening in the roof of the mouth (cleft palate), genitourinary problems such as abnormal kidneys or reproductive organs, heart abnormalities, or lung defects that can cause breathing problems. Affected individuals may have other skeletal defects including arms or legs of unequal length (limb length discrepancy), which can result in misalignment of the hips or knees. Additionally, the shoulder blades may be underdeveloped so that they sit abnormally high on the back, a condition called Sprengel deformity. Rarely, structural brain abnormalities or a type of birth defect that occurs during the development of the brain and spinal cord (neural tube defect) can occur in people with Klippel-Feil syndrome.\n\nIn some cases, Klippel-Feil syndrome occurs as a feature of another disorder or syndrome, such as Wildervanck syndrome or hemifacial microsomia. In these instances, affected individuals have the signs and symptoms of both Klippel-Feil syndrome and the additional disorder.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/396196">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_894554"><div><strong>Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>894554</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.">C4085597</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">CHOPS syndrome is a disorder involving multiple abnormalities that are present from birth (congenital). The name "CHOPS" is an abbreviation for a list of features of the disorder including cognitive impairment, coarse facial features, heart defects, obesity, lung (pulmonary) involvement, short stature, and skeletal abnormalities.\n\nChildren with CHOPS syndrome have intellectual disability and delayed development of skills such as sitting and walking. Characteristic facial features include a round face; thick hair; thick eyebrows that grow together in the middle (synophrys); wide-set, bulging eyes with long eyelashes; a short nose; and down-turned corners of the mouth.\n\nMost affected individuals are born with a heart defect called patent ductus arteriosus (PDA). The ductus arteriosus is a connection between two major arteries, the aorta and the pulmonary artery. This connection is open during fetal development and normally closes shortly after birth. However, the ductus arteriosus remains open, or patent, in babies with PDA. If untreated, this heart defect causes infants to breathe rapidly, feed poorly, and gain weight slowly; in severe cases, it can lead to heart failure. Multiple heart abnormalities have sometimes been found in children with CHOPS syndrome. In addition to PDA, affected individuals may have ventricular septal defect, which is a defect in the muscular wall (septum) that separates the right and left sides of the heart's lower chamber.\n\nPeople with CHOPS syndrome have abnormalities of the throat and airways that cause momentary cessation of breathing while asleep (obstructive sleep apnea). These abnormalities can also cause affected individuals to breathe food or fluids into the lungs accidentally, which can lead to a potentially life-threatening bacterial lung infection (aspiration pneumonia) and chronic lung disease. Affected individuals are shorter than more than 97 percent of their peers and are overweight for their height. They also have skeletal differences including unusually short fingers and toes (brachydactyly) and abnormally-shaped spinal bones (vertebrae).\n\nOther features that can occur in CHOPS syndrome include a small head size (microcephaly); hearing loss; clouding of the lens of the eye (cataract); a single, horseshoe-shaped kidney; and, in affected males, undescended testes (cryptorchidism).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/894554">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_894399"><div><strong>Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>894399</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.">C4225285</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Klippel-Feil syndrome-4 with nemaline myopathy and facial dysmorphism (KFS4) is an autosomal recessive disorder characterized mainly by severe hypotonia apparent from infancy. Klippel-Feil anomaly is primarily defined by fusion of the cervical spine, with associated low posterior hairline and limited neck mobility being observed in about half of patients (summary by Alazami et al., 2015). For a general description and a discussion of genetic heterogeneity of Klippel-Feil syndrome, see KFS1 (118100).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/894399">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_923943"><div><strong>Frontometaphyseal dysplasia 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>923943</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.">C4281559</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
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<div class="spaceAbove">The X-linked otopalatodigital (X-OPD) spectrum disorders, characterized primarily by skeletal dysplasia, include the following: Otopalatodigital syndrome type 1 (OPD1). Otopalatodigital syndrome type 2 (OPD2). Frontometaphyseal dysplasia type 1 (FMD1). Melnick-Needles syndrome (MNS). Terminal osseous dysplasia with pigmentary skin defects (TODPD). In OPD1, most manifestations are present at birth; females can present with severity similar to affected males, although some have only mild manifestations. In OPD2, females are less severely affected than related affected males. Most males with OPD2 die during the first year of life, usually from thoracic hypoplasia resulting in pulmonary insufficiency. Males who live beyond the first year of life are usually developmentally delayed and require respiratory support and assistance with feeding. In FMD1, females are less severely affected than related affected males. Males do not experience a progressive skeletal dysplasia but may have joint contractures and hand and foot malformations. Progressive scoliosis is observed in both affected males and females. In MNS, wide phenotypic variability is observed; some individuals are diagnosed in adulthood, while others require respiratory support and have reduced longevity. MNS in males results in perinatal lethality in all recorded cases. TODPD, seen only in females, is characterized by a skeletal dysplasia that is most prominent in the digits, pigmentary defects of the skin, and recurrent digital fibromata.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/923943">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_934584"><div><strong>Intellectual developmental disorder with dysmorphic facies and ptosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>934584</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.">C4310617</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Intellectual developmental disorder with dysmorphic facies and ptosis (IDDDFP) is an autosomal dominant neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability, delayed language, and dysmorphic facial features, most notably ptosis/blepharophimosis. Additional features may include poor growth, hypotonia, and seizures (summary by Mattioli et al., 2017). See also chromosome 3p deletion syndrome (613792).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/934584">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_934639"><div><strong>Shashi-Pena syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>934639</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.">C4310672</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Shashi-Pena syndrome is characterized by distinctive facial features accompanied by variable further clinical findings. Facial features may include glabellar nevus simplex, widely spaced and prominent/proptotic eyes with epicanthal folds and ptosis, arched eyebrows, broad nasal tip, and low-set/posteriorly rotated ears. Dental anomalies may include early eruption and loss of teeth as well as small and fragile teeth. Most affected individuals have infantile hypotonia that frequently resolves over time. Macrosomia and macrocephaly are also common. Affected individuals can have variable developmental delay / intellectual disability, ranging from low-average intellectual abilities to severe intellectual disability. They often demonstrate difficulties with attention and aggressive behavior. Affected individuals may have feeding difficulties that require supportive nasogastric or gastrostomy tube feeding, skin findings (capillary malformations, deep palmar creases, hypertrichosis), skeletal anomalies (scoliosis/kyphosis, hypermobility, frequent fractures), congenital heart defects, seizures, hypoglycemia (most typically in infancy, may be due to hyperinsulinism), vision abnormalities (strabismus, amblyopia), conductive hearing loss, sleep apnea, temperature dysregulation, and global volume loss on brain MRI.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/934639">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_1615839"><div><strong>Intellectual disability, autosomal dominant 52</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1615839</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.">C4540478</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/1615839">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_1632001"><div><strong>Ehlers-Danlos syndrome, classic-like, 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1632001</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.">C4693870</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Ehlers-Danlos syndrome classic-like-2 (EDSCLL2) is characterized by severe joint and skin laxity, osteoporosis involving the hips and spine, osteoarthritis, soft redundant skin that can be acrogeria-like, delayed wound healing with abnormal atrophic scarring, and shoulder, hip, knee, and ankle dislocations. Variable features include gastrointestinal and genitourinary manifestations, such as bowel rupture, gut dysmotility, cryptorchidism, and hernias; vascular complications, such as mitral valve prolapse and aortic root dilation; and skeletal anomalies (Blackburn et al., 2018). For a discussion of genetic heterogeneity of classic-like Ehlers-Danlos syndrome, see 606408. For a discussion of the classification of EDS, see 130000.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/1632001">Condition Record</a></div></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_894554" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1632001" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ehlers-Danlos syndrome, classic-like, 2</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_923028" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Elsahy-Waters syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_923943" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Frontometaphyseal dysplasia 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_120524" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Holt-Oram syndrome</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (12)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_934584" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Intellectual developmental disorder with dysmorphic facies and ptosis</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1615839" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Intellectual disability, autosomal dominant 52</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_894399" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_396196" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Klippel-Feil syndrome 1, autosomal dominant</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_395201" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Klippel-Feil syndrome 2, autosomal recessive</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_331978" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Leri pleonosteosis</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_934639" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Shashi-Pena 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/35171878">Klippel-Feil Syndrome: Clinical Presentation and Management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jae-Min Park A,
|
||
Nelson SE,
|
||
Mesfin A</span><br />
|
||
<span class="medgenPMjournal">JBJS Rev</span>
|
||
2022 Feb 15;10(2)
|
||
doi: 10.2106/JBJS.RVW.21.00166.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35171878" target="_blank">35171878</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34288888">Klippel-Feil Syndrome: Pathogenesis, Diagnosis, and Management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Litrenta J,
|
||
Bi AS,
|
||
Dryer JW</span><br />
|
||
<span class="medgenPMjournal">J Am Acad Orthop Surg</span>
|
||
2021 Nov 15;29(22):951-960.
|
||
doi: 10.5435/JAAOS-D-21-00190.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34288888" target="_blank">34288888</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/3530565">Prenatal diagnosis and pathoanatomy of iniencephaly.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mórocz I,
|
||
Szeifert GT,
|
||
Molnár P,
|
||
Tóth Z,
|
||
Csécsei K,
|
||
Papp Z</span><br />
|
||
<span class="medgenPMjournal">Clin Genet</span>
|
||
1986 Aug;30(2):81-6.
|
||
doi: 10.1111/j.1399-0004.1986.tb00574.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/3530565" target="_blank">3530565</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22klippel-feil%20syndrome%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (4)</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/35171878">Klippel-Feil Syndrome: Clinical Presentation and Management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jae-Min Park A,
|
||
Nelson SE,
|
||
Mesfin A</span><br />
|
||
<span class="medgenPMjournal">JBJS Rev</span>
|
||
2022 Feb 15;10(2)
|
||
doi: 10.2106/JBJS.RVW.21.00166.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35171878" target="_blank">35171878</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30610307">Chiari Malformations.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mancarella C,
|
||
Delfini R,
|
||
Landi A</span><br />
|
||
<span class="medgenPMjournal">Acta Neurochir Suppl</span>
|
||
2019;125:89-95.
|
||
doi: 10.1007/978-3-319-62515-7_13.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30610307" target="_blank">30610307</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25839387">Degenerative Cervical Myelopathy: Epidemiology, Genetics, and Pathogenesis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nouri A,
|
||
Tetreault L,
|
||
Singh A,
|
||
Karadimas SK,
|
||
Fehlings MG</span><br />
|
||
<span class="medgenPMjournal">Spine (Phila Pa 1976)</span>
|
||
2015 Jun 15;40(12):E675-93.
|
||
doi: 10.1097/BRS.0000000000000913.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25839387" target="_blank">25839387</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/18272131">Klippel-Feil syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">O'Donnel DP,
|
||
Seupaul RA</span><br />
|
||
<span class="medgenPMjournal">Am J Emerg Med</span>
|
||
2008 Feb;26(2):252.e1-2.
|
||
doi: 10.1016/j.ajem.2007.04.017.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18272131" target="_blank">18272131</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/6474250">The incidence of Klippel-Feil syndrome in patients with congenital scoliosis and kyphosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Winter RB,
|
||
Moe JH,
|
||
Lonstein JE</span><br />
|
||
<span class="medgenPMjournal">Spine (Phila Pa 1976)</span>
|
||
1984 May-Jun;9(4):363-6.
|
||
doi: 10.1097/00007632-198405000-00006.
|
||
<span class="bold">PMID: </span><a href="/pubmed/6474250" target="_blank">6474250</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Klippel-Feil%20syndrome%22%20AND%20Etiology%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (142)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/34288888">Klippel-Feil Syndrome: Pathogenesis, Diagnosis, and Management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Litrenta J,
|
||
Bi AS,
|
||
Dryer JW</span><br />
|
||
<span class="medgenPMjournal">J Am Acad Orthop Surg</span>
|
||
2021 Nov 15;29(22):951-960.
|
||
doi: 10.5435/JAAOS-D-21-00190.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34288888" target="_blank">34288888</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31577545">Klippel-Feil syndrome: a review of the literature.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Frikha R</span><br />
|
||
<span class="medgenPMjournal">Clin Dysmorphol</span>
|
||
2020 Jan;29(1):35-37.
|
||
doi: 10.1097/MCD.0000000000000301.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31577545" target="_blank">31577545</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30610307">Chiari Malformations.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mancarella C,
|
||
Delfini R,
|
||
Landi A</span><br />
|
||
<span class="medgenPMjournal">Acta Neurochir Suppl</span>
|
||
2019;125:89-95.
|
||
doi: 10.1007/978-3-319-62515-7_13.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30610307" target="_blank">30610307</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25839387">Degenerative Cervical Myelopathy: Epidemiology, Genetics, and Pathogenesis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nouri A,
|
||
Tetreault L,
|
||
Singh A,
|
||
Karadimas SK,
|
||
Fehlings MG</span><br />
|
||
<span class="medgenPMjournal">Spine (Phila Pa 1976)</span>
|
||
2015 Jun 15;40(12):E675-93.
|
||
doi: 10.1097/BRS.0000000000000913.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25839387" target="_blank">25839387</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/18272131">Klippel-Feil syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">O'Donnel DP,
|
||
Seupaul RA</span><br />
|
||
<span class="medgenPMjournal">Am J Emerg Med</span>
|
||
2008 Feb;26(2):252.e1-2.
|
||
doi: 10.1016/j.ajem.2007.04.017.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18272131" target="_blank">18272131</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Klippel-Feil%20syndrome%22%20AND%20Diagnosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (303)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/31214770">Klippel-Feil syndrome misdiagnosed as spondyloarthropathy: case-based review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Čota S,
|
||
Žagar I,
|
||
Delimar V,
|
||
Pap M,
|
||
Perić D,
|
||
Perić P</span><br />
|
||
<span class="medgenPMjournal">Rheumatol Int</span>
|
||
2019 Sep;39(9):1655-1660.
|
||
Epub 2019 Jun 18
|
||
doi: 10.1007/s00296-019-04346-0.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31214770" target="_blank">31214770</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27301052">Crisis Management of Accidental Extubation in a Prone-Positioned Patient with Klippel-Feil Syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Spond M,
|
||
Burns T,
|
||
Rosenbaum T,
|
||
Lienhart K</span><br />
|
||
<span class="medgenPMjournal">A A Case Rep</span>
|
||
2016 Jun 15;6(12):383-6.
|
||
doi: 10.1213/XAA.0000000000000324.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27301052" target="_blank">27301052</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22382290">Sprengel deformity: pathogenesis and management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Harvey EJ,
|
||
Bernstein M,
|
||
Desy NM,
|
||
Saran N,
|
||
Ouellet JA</span><br />
|
||
<span class="medgenPMjournal">J Am Acad Orthop Surg</span>
|
||
2012 Mar;20(3):177-86.
|
||
doi: 10.5435/JAAOS-20-03-177.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22382290" target="_blank">22382290</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21414078">Transition from pediatric to adult health services: the perioperative care perspective.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Brennan LJ,
|
||
Rolfe PM</span><br />
|
||
<span class="medgenPMjournal">Paediatr Anaesth</span>
|
||
2011 Jun;21(6):630-5.
|
||
Epub 2011 Mar 18
|
||
doi: 10.1111/j.1460-9592.2011.03560.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21414078" target="_blank">21414078</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21327144">Cervical Klippel-Feil syndrome predisposing an elderly African man to central cord myelopathy following minor trauma.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Adeleye AO,
|
||
Akinyemi RO</span><br />
|
||
<span class="medgenPMjournal">Afr Health Sci</span>
|
||
2010 Sep;10(3):302-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21327144" target="_blank">21327144</a><a href="/pmc/articles/PMC3035964" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Klippel-Feil%20syndrome%22%20AND%20Therapy%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (48)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36302448">Congenital Cervical Spinal Deformities.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Courvoisier A</span><br />
|
||
<span class="medgenPMjournal">Orthop Traumatol Surg Res</span>
|
||
2023 Feb;109(1S):103459.
|
||
Epub 2022 Oct 24
|
||
doi: 10.1016/j.otsr.2022.103459.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36302448" target="_blank">36302448</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31577545">Klippel-Feil syndrome: a review of the literature.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Frikha R</span><br />
|
||
<span class="medgenPMjournal">Clin Dysmorphol</span>
|
||
2020 Jan;29(1):35-37.
|
||
doi: 10.1097/MCD.0000000000000301.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31577545" target="_blank">31577545</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25839387">Degenerative Cervical Myelopathy: Epidemiology, Genetics, and Pathogenesis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nouri A,
|
||
Tetreault L,
|
||
Singh A,
|
||
Karadimas SK,
|
||
Fehlings MG</span><br />
|
||
<span class="medgenPMjournal">Spine (Phila Pa 1976)</span>
|
||
2015 Jun 15;40(12):E675-93.
|
||
doi: 10.1097/BRS.0000000000000913.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25839387" target="_blank">25839387</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10742742">Klippel Feil syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Suman RL,
|
||
Savani M</span><br />
|
||
<span class="medgenPMjournal">Indian Pediatr</span>
|
||
1999 Aug;36(8):832-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10742742" target="_blank">10742742</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/1739048">Klippel-Feil syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">McBride WZ</span><br />
|
||
<span class="medgenPMjournal">Am Fam Physician</span>
|
||
1992 Feb;45(2):633-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/1739048" target="_blank">1739048</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Klippel-Feil%20syndrome%22%20AND%20Prognosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (86)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38676727">Klippel-Feil syndrome: Should additional examination be conducted?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ekin EE,
|
||
Altunrende ME</span><br />
|
||
<span class="medgenPMjournal">Eur Spine J</span>
|
||
2024 Jun;33(6):2347-2353.
|
||
Epub 2024 Apr 27
|
||
doi: 10.1007/s00586-024-08281-y.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38676727" target="_blank">38676727</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34543827">Cervical disc arthroplasty for Klippel-Feil syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lee CY,
|
||
Wu CL,
|
||
Chang HK,
|
||
Wu JC,
|
||
Huang WC,
|
||
Cheng H,
|
||
Tu TH</span><br />
|
||
<span class="medgenPMjournal">Clin Neurol Neurosurg</span>
|
||
2021 Oct;209:106934.
|
||
Epub 2021 Sep 3
|
||
doi: 10.1016/j.clineuro.2021.106934.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34543827" target="_blank">34543827</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34288888">Klippel-Feil Syndrome: Pathogenesis, Diagnosis, and Management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Litrenta J,
|
||
Bi AS,
|
||
Dryer JW</span><br />
|
||
<span class="medgenPMjournal">J Am Acad Orthop Surg</span>
|
||
2021 Nov 15;29(22):951-960.
|
||
doi: 10.5435/JAAOS-D-21-00190.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34288888" target="_blank">34288888</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25839387">Degenerative Cervical Myelopathy: Epidemiology, Genetics, and Pathogenesis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nouri A,
|
||
Tetreault L,
|
||
Singh A,
|
||
Karadimas SK,
|
||
Fehlings MG</span><br />
|
||
<span class="medgenPMjournal">Spine (Phila Pa 1976)</span>
|
||
2015 Jun 15;40(12):E675-93.
|
||
doi: 10.1097/BRS.0000000000000913.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25839387" target="_blank">25839387</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/5652995">Mirror movements in patients with the Klippel-Feil syndrome. Neuropathologic observations.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gunderson CH,
|
||
Solitare GB</span><br />
|
||
<span class="medgenPMjournal">Arch Neurol</span>
|
||
1968 Jun;18(6):675-9.
|
||
doi: 10.1001/archneur.1968.00470360097009.
|
||
<span class="bold">PMID: </span><a href="/pubmed/5652995" target="_blank">5652995</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Klippel-Feil%20syndrome%22%20AND%20Clinical%20prediction%20guides%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (84)</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_104">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">
|
||
<div class="nl"><a target="_blank" href="/pubmed/37219571">Transmandibular Cervical Corpectomy for Persistent Spinal Cord Compression in a Patient With Klippel-Feil Syndrome: A Technical Note and Systematic Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nie JW,
|
||
Sadeh M,
|
||
Almadidy Z,
|
||
Callahan N,
|
||
Neckrysh S</span><br />
|
||
<span class="medgenPMjournal">Oper Neurosurg (Hagerstown)</span>
|
||
2023 Aug 1;25(2):117-124.
|
||
Epub 2023 May 22
|
||
doi: 10.1227/ons.0000000000000754.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37219571" target="_blank">37219571</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22872219">Indication for spinal fusion and the risk of adjacent segment pathology: does reason for fusion affect risk? A systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lee MJ,
|
||
Dettori JR,
|
||
Standaert CJ,
|
||
Ely CG,
|
||
Chapman JR</span><br />
|
||
<span class="medgenPMjournal">Spine (Phila Pa 1976)</span>
|
||
2012 Oct 15;37(22 Suppl):S40-51.
|
||
doi: 10.1097/BRS.0b013e31826ca9b1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22872219" target="_blank">22872219</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Klippel-Feil%20syndrome%22%20AND%20systematic%5Bsb%5D%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (2)</a></div></div>
|
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</div>
|
||
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<h2 class="offscreen_noflow">Supplemental Content</h2>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C0022738%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (2)</a></li>
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<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C0022738%5bDISCUI%5d" target="_blank">See all (2)</a></total></li>
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<div class="portlet_content ln"><ul><li><a href="https://www.omim.org/phenotypicSeries/PS118100" target="_blank">OMIM</a></li><li><a href="https://clinicaltrials.gov/search?cond=Klippel-Feil%20syndrome" target="_blank">ClinicalTrials.gov</a></li></ul></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=(%22klippel-feil%20syndrome%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">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(%22Klippel-Feil%20syndrome%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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