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<meta name="keywords" content="C1842083, abnormal rib morphology, abnormality of the ribs, anatomical abnormality, finding, rib abnormalities, rib anomalies, 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 anomaly of the rib." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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UID=330763
|
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ConceptID=C1842083
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Abnormal rib morphology</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>330763</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:">C1842083</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality; Finding</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
||
<td>Abnormality of the ribs</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:0000772">HP:0000772</a></td></tr>
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<div class="portlet mgSection" id="ID_100">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">An anomaly of the rib. [from <a title="Human Phenotype Ontology" href="http://www.human-phenotype-ontology.org" class="defSource" target="_blank">HPO</a>]</div>
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</div>
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<div class="portlet mgSection" id="ID_118">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<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=C1842083[DISCUI]&test_type=Clinical" ref="ncbi_uid=330763">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=330763" ref="ncbi_uid=330763">V</a></span></span><span class="TLline">Abnormal rib morphology</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/1763488" ref="tree=MeSH" title="MedGen record for Abnormality of the musculoskeletal system">Abnormality of the musculoskeletal system</a></span><ul><li><span class="TLline"><a href="/medgen/867418" ref="tree=MeSH" title="MedGen record for Abnormality of the skeletal system">Abnormality of the skeletal system</a></span><ul><li><span class="TLline"><a href="/medgen/868760" ref="tree=MeSH" title="MedGen record for Abnormal skeletal morphology">Abnormal skeletal morphology</a></span><ul><li><span class="TLline"><a href="/medgen/892434" ref="tree=MeSH" title="MedGen record for Abnormal axial skeleton morphology">Abnormal axial skeleton morphology</a></span><ul><li><span class="TLline"><a href="/medgen/867424" ref="tree=MeSH" title="MedGen record for Abnormal thorax morphology">Abnormal thorax morphology</a></span><ul><li><span class="TLline"><a href="/medgen/871275" ref="tree=MeSH" title="MedGen record for Abnormal rib cage morphology">Abnormal rib cage morphology</a></span><ul><li><span class="matched_ds">Abnormal rib morphology</span><ul><li><span class="TLline"><a href="/medgen/867419" ref="tree=MeSH" title="MedGen record for Abnormality of the costochondral junction">Abnormality of the costochondral junction</a></span><ul><li><span class="TLline"><a href="/medgen/338492" ref="tree=MeSH" title="MedGen record for Bulging of the costochondral junction">Bulging of the costochondral junction</a></span></li><li><span class="TLline"><a href="/medgen/867230" ref="tree=MeSH" title="MedGen record for Costochondral joint sclerosis">Costochondral joint sclerosis</a></span></li><li><span class="TLline"><a href="/medgen/346535" ref="tree=MeSH" title="MedGen record for Enlargement of the costochondral junction">Enlargement of the costochondral junction</a></span></li><li><span class="TLline"><a href="/medgen/349980" ref="tree=MeSH" title="MedGen record for Irregular chondrocostal junctions">Irregular chondrocostal junctions</a></span></li><li><span class="TLline"><a href="/medgen/1642285" ref="tree=MeSH" title="MedGen record for Rachitic rosary">Rachitic rosary</a></span></li><li><span class="TLline"><a href="/medgen/349985" ref="tree=MeSH" title="MedGen record for Wide-cupped costochondral junctions">Wide-cupped costochondral junctions</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/349346" ref="tree=MeSH" title="MedGen record for Anomalous rib insertion to vertebrae">Anomalous rib insertion to vertebrae</a></span></li><li><span class="TLline"><a href="/medgen/1648338" ref="tree=MeSH" title="MedGen record for Bifid ribs">Bifid ribs</a></span></li><li><span class="TLline"><a href="/medgen/336390" ref="tree=MeSH" title="MedGen record for Broad ribs">Broad ribs</a></span><ul><li><span class="TLline"><a href="/medgen/344777" ref="tree=MeSH" title="MedGen record for Spatulate ribs">Spatulate ribs</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/870562" ref="tree=MeSH" title="MedGen record for Coat hanger sign of ribs">Coat hanger sign of ribs</a></span></li><li><span class="TLline"><a href="/medgen/1864239" ref="tree=MeSH" title="MedGen record for Crescent-shaped iliac bone">Crescent-shaped iliac bone</a></span></li><li><span class="TLline"><a href="/medgen/351284" ref="tree=MeSH" title="MedGen record for Cupped ribs">Cupped ribs</a></span><ul><li><span class="TLline"><a href="/medgen/337520" ref="tree=MeSH" title="MedGen record for Anterior rib cupping">Anterior rib cupping</a></span></li><li><span class="TLline"><a href="/medgen/400857" ref="tree=MeSH" title="MedGen record for Flared, irregular rib ends">Flared, irregular rib ends</a></span></li><li><span class="TLline"><a href="/medgen/325182" ref="tree=MeSH" title="MedGen record for Posterior rib cupping">Posterior rib cupping</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/381496" ref="tree=MeSH" title="MedGen record for Flaring of rib cage">Flaring of rib cage</a></span><ul><li><span class="TLline"><a href="/medgen/381581" ref="tree=MeSH" title="MedGen record for Flaring of lower rib cage">Flaring of lower rib cage</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/812840" ref="tree=MeSH" title="MedGen record for Horizontal ribs">Horizontal ribs</a></span></li><li><span class="TLline"><a href="/medgen/75784" ref="tree=MeSH" title="MedGen record for Multiple rib fractures">Multiple rib fractures</a></span></li><li><span class="TLline"><a href="/medgen/870564" ref="tree=MeSH" title="MedGen record for Prominent floating ribs">Prominent floating ribs</a></span></li><li><span class="TLline"><a href="/medgen/78570" ref="tree=MeSH" title="MedGen record for Rib fusion">Rib fusion</a></span><ul><li><span class="TLline"><a href="/medgen/330764" ref="tree=MeSH" title="MedGen record for Posterior rib fusion">Posterior rib fusion</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/605200" ref="tree=MeSH" title="MedGen record for Rib gap">Rib gap</a></span><ul><li><span class="TLline"><a href="/medgen/334230" ref="tree=MeSH" title="MedGen record for Posterior rib gap">Posterior rib gap</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/369388" ref="tree=MeSH" title="MedGen record for Rib segmentation abnormalities">Rib segmentation abnormalities</a></span></li><li><span class="TLline"><a href="/medgen/1863583" ref="tree=MeSH" title="MedGen record for Rib spur">Rib spur</a></span></li><li><span class="TLline"><a href="/medgen/870675" ref="tree=MeSH" title="MedGen record for Superior rib anomalies">Superior rib anomalies</a></span></li><li><span class="TLline"><a href="/medgen/98096" ref="tree=MeSH" title="MedGen record for Thickened ribs">Thickened ribs</a></span></li><li><span class="TLline"><a href="/medgen/98095" ref="tree=MeSH" title="MedGen record for Thin ribs">Thin ribs</a></span></li><li><span class="TLline"><a href="/medgen/409776" ref="tree=MeSH" title="MedGen record for Undulate ribs">Undulate ribs</a></span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_112">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Conditions_with_this_feature">Conditions with this feature</h1><a sid="112" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln clinfeat">
|
||
<div class="divPopper rprt" id="rdis_75567"><div><strong>CHARGE syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>75567</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.">C0265354</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">CHD7 disorder encompasses the entire phenotypic spectrum of heterozygous CHD7 pathogenic variants that includes CHARGE syndrome as well as subsets of features that comprise the CHARGE syndrome phenotype. The mnemonic CHARGE syndrome, introduced in the premolecular era, stands for coloboma, heart defect, choanal atresia, retarded growth and development, genital hypoplasia, ear anomalies (including deafness). Following the identification of the genetic cause of CHD7 disorder, the phenotypic spectrum expanded to include cranial nerve anomalies, vestibular defects, cleft lip and/or palate, hypothyroidism, tracheoesophageal anomalies, brain anomalies, seizures, and renal anomalies. Life expectancy highly depends on the severity of manifestations; mortality can be high in the first few years when severe birth defects (particularly complex heart defects) are present and often complicated by airway and feeding issues. In childhood, adolescence, and adulthood, decreased life expectancy is likely related to a combination of residual heart defects, infections, aspiration or choking, respiratory issues including obstructive and central apnea, and possibly seizures. Despite these complications, the life expectancy for many individuals can be normal.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/75567">Condition Record</a></div></div>
|
||
<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>
|
||
<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>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/396196">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_355549"><div><strong>Pierre Robin sequence with pectus excavatum and rib and scapular anomalies</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>355549</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.">C1865783</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/355549">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_365434"><div><strong>Alagille syndrome due to a JAG1 point mutation</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>365434</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.">C1956125</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Alagille syndrome (ALGS) is a multisystem disorder with a wide spectrum of clinical variability; this variability is seen even among individuals from the same family. The major clinical manifestations of ALGS are bile duct paucity on liver biopsy, cholestasis, congenital cardiac defects (primarily involving the pulmonary arteries), butterfly vertebrae, ophthalmologic abnormalities (most commonly posterior embryotoxon), and characteristic facial features. Renal abnormalities, growth failure, behavioral differences, splenomegaly, retinal changes, and vascular abnormalities may also occur.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/365434">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_902479"><div><strong>VATER association</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>902479</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.">C4225671</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">VATER is a mnemonically useful acronym for the nonrandom association of vertebral defects (V), anal atresia (A), tracheoesophageal fistula with esophageal atresia (TE), and radial or renal dysplasia (R). This combination of associated defects was pointed out by Quan and Smith (1972). Nearly all cases have been sporadic. VACTERL is an acronym for an expanded definition of the association that includes cardiac malformations (C) and limb anomalies (L). The VACTERL association is a spectrum of various combinations of its 6 components, which can be a manifestation of several recognized disorders rather than a distinct anatomic or etiologic entity (Khoury et al., 1983). Also see VATER/VACTERL association with hydrocephalus (VACTERL-H; 276950) and VACTERL with or without hydrocephalus (VACTERLX; 314390).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/902479">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_931237"><div><strong>Mayer-Rokitansky-Küster-Hauser syndrome type 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>931237</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.">C4305568</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 2, a form of MRKH syndrome (see this term), is characterized by congenital aplasia of the uterus and upper 2/3 of the vagina that is associated with at least one other malformation such as renal, vertebral, or, less commonly, auditory and cardiac defects. The acronym MURCS (MÜllerian duct aplasia, Renal dysplasia, Cervical Somite anomalies) is also used.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/931237">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_365434" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Alagille syndrome due to a JAG1 point mutation</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_75567" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">CHARGE 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_931237" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mayer-Rokitansky-Küster-Hauser syndrome type 2</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_355549" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pierre Robin sequence with pectus excavatum and rib and scapular anomalies</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_902479" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">VATER association</a></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/36648381">The etiology, clinical features, and treatment options of hemifacial microsomia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Luo S,
|
||
Sun H,
|
||
Bian Q,
|
||
Liu Z,
|
||
Wang X</span><br />
|
||
<span class="medgenPMjournal">Oral Dis</span>
|
||
2023 Sep;29(6):2449-2462.
|
||
Epub 2023 Mar 13
|
||
doi: 10.1111/odi.14508.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36648381" target="_blank">36648381</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8172252">Early prenatal diagnosis of polycystic pancreas with narrow thorax and short limb dwarfism.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bronstein M,
|
||
Reichler A,
|
||
Borochowitz Z,
|
||
Bejar J,
|
||
Drugan A</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet</span>
|
||
1994 Jan 1;49(1):6-9.
|
||
doi: 10.1002/ajmg.1320490103.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8172252" target="_blank">8172252</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/14888975">Cervical ribs: symptoms, differential diagnosis and indications for section of the insertion of the scalenus anticus muscle.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">ADSON AW</span><br />
|
||
<span class="medgenPMjournal">J Int Coll Surg</span>
|
||
1951 Nov;16(5):546-59.
|
||
<span class="bold">PMID: </span><a href="/pubmed/14888975" target="_blank">14888975</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(abnormal%20rib%20morphology)%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 (30)</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/39985050">The progress of research on crankshaft phenomenon.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Peng Z,
|
||
Han B,
|
||
Wang S,
|
||
Zhang J</span><br />
|
||
<span class="medgenPMjournal">J Orthop Surg Res</span>
|
||
2025 Feb 21;20(1):188.
|
||
doi: 10.1186/s13018-025-05586-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39985050" target="_blank">39985050</a><a href="/pmc/articles/PMC11846324" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34890546">Monoallelic IFT140 pathogenic variants are an important cause of the autosomal dominant polycystic kidney-spectrum phenotype.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Senum SR,
|
||
Li YSM,
|
||
Benson KA,
|
||
Joli G,
|
||
Olinger E,
|
||
Lavu S,
|
||
Madsen CD,
|
||
Gregory AV,
|
||
Neatu R,
|
||
Kline TL,
|
||
Audrézet MP,
|
||
Outeda P,
|
||
Nau CB,
|
||
Meijer E,
|
||
Ali H,
|
||
Steinman TI,
|
||
Mrug M,
|
||
Phelan PJ,
|
||
Watnick TJ,
|
||
Peters DJM,
|
||
Ong ACM,
|
||
Conlon PJ,
|
||
Perrone RD,
|
||
Cornec-Le Gall E,
|
||
Hogan MC,
|
||
Torres VE,
|
||
Sayer JA;
|
||
Genomics England Research Consortium, the HALT PKD, CRISP, DIPAK, ADPKD Modifier, and TAME PKD studies,
|
||
Harris PC</span><br />
|
||
<span class="medgenPMjournal">Am J Hum Genet</span>
|
||
2022 Jan 6;109(1):136-156.
|
||
Epub 2021 Dec 9
|
||
doi: 10.1016/j.ajhg.2021.11.016.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34890546" target="_blank">34890546</a><a href="/pmc/articles/PMC8764120" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34440654">Ciliary Dyneins and Dynein Related Ciliopathies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Antony D,
|
||
Brunner HG,
|
||
Schmidts M</span><br />
|
||
<span class="medgenPMjournal">Cells</span>
|
||
2021 Jul 25;10(8)
|
||
doi: 10.3390/cells10081885.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34440654" target="_blank">34440654</a><a href="/pmc/articles/PMC8391580" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22791528">Ciliary disorder of the skeleton.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Huber C,
|
||
Cormier-Daire V</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet C Semin Med Genet</span>
|
||
2012 Aug 15;160C(3):165-74.
|
||
Epub 2012 Jul 12
|
||
doi: 10.1002/ajmg.c.31336.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22791528" target="_blank">22791528</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22581530">The thoracic outlet syndromes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ferrante MA</span><br />
|
||
<span class="medgenPMjournal">Muscle Nerve</span>
|
||
2012 Jun;45(6):780-95.
|
||
doi: 10.1002/mus.23235.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22581530" target="_blank">22581530</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormal%20rib%20morphology%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 (451)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39985050">The progress of research on crankshaft phenomenon.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Peng Z,
|
||
Han B,
|
||
Wang S,
|
||
Zhang J</span><br />
|
||
<span class="medgenPMjournal">J Orthop Surg Res</span>
|
||
2025 Feb 21;20(1):188.
|
||
doi: 10.1186/s13018-025-05586-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39985050" target="_blank">39985050</a><a href="/pmc/articles/PMC11846324" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36648381">The etiology, clinical features, and treatment options of hemifacial microsomia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Luo S,
|
||
Sun H,
|
||
Bian Q,
|
||
Liu Z,
|
||
Wang X</span><br />
|
||
<span class="medgenPMjournal">Oral Dis</span>
|
||
2023 Sep;29(6):2449-2462.
|
||
Epub 2023 Mar 13
|
||
doi: 10.1111/odi.14508.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36648381" target="_blank">36648381</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29068549">Expanding the genetic architecture and phenotypic spectrum in the skeletal ciliopathies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zhang W,
|
||
Taylor SP,
|
||
Ennis HA,
|
||
Forlenza KN,
|
||
Duran I,
|
||
Li B,
|
||
Sanchez JAO,
|
||
Nevarez L,
|
||
Nickerson DA,
|
||
Bamshad M;
|
||
University of Washington Center for Mendelian Genomics,
|
||
Lachman RS,
|
||
Krakow D,
|
||
Cohn DH</span><br />
|
||
<span class="medgenPMjournal">Hum Mutat</span>
|
||
2018 Jan;39(1):152-166.
|
||
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormal%20rib%20morphology%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 (276)</a></div><h3 class="subhead">Clinical prediction guides</h3>
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<div class="nl"><a target="_blank" href="/pubmed/25437139">Autopsy observations in lethal short-rib polydactyly syndromes.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Okiro P,
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Wainwright H,
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Spranger J,
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormal%20rib%20morphology%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 (218)</a></div></div>
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</div>
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<div class="portlet mgSection" id="ID_104">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln">
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<div class="nl"><a target="_blank" href="/pubmed/38565611">Identification of a novel LFNG variant in a Chinese fetus with spondylocostal dysostosis and a systematic review.</a></div>
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Mizumoto S,
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Zhang R,
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Zhang Y,
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Liu Y,
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Cheng W,
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Li X,
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Dan M,
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Zhang C,
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Gao X,
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Wang J,
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Han J,
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Jiao L,
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Wang Y,
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Jin Q,
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Yang L,
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Li C,
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Li S,
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Zhu J,
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Jiang H,
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Nishimura G,
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Yamada T,
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Yamada S,
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2024 Jul;69(7):321-327.
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<span class="bold">PMID: </span><a href="/pubmed/38565611" target="_blank">38565611</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/33470621">Reconstruction of Congenital Sternal Cleft: A Systematic Review of the Literature.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Hinchcliff KM,
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Xue Y,
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<div class="nl"><a target="_blank" href="/pubmed/30470688">Comparison of the use of lung ultrasound and chest radiography in the diagnosis of rib fractures: a systematic review.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Battle C,
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Hayward S,
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<span class="bold">PMID: </span><a href="/pubmed/30470688" target="_blank">30470688</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/28863859">Grafting materials for alveolar cleft reconstruction: a systematic review and best-evidence synthesis.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Wu C,
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Pan W,
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Feng C,
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Su Z,
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Duan Z,
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Zheng Q,
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Hua C,
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Li C</span><br />
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<span class="medgenPMjournal">Int J Oral Maxillofac Surg</span>
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2018 Mar;47(3):345-356.
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Epub 2017 Aug 31
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doi: 10.1016/j.ijom.2017.08.003.
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<span class="bold">PMID: </span><a href="/pubmed/28863859" target="_blank">28863859</a></div>
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||
<div class="nl"><a target="_blank" href="/pubmed/28749971">Pediatric cancer risk in association with birth defects: A systematic review.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Johnson KJ,
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Lee JM,
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Ahsan K,
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<span class="bold">PMID: </span><a href="/pubmed/28749971" target="_blank">28749971</a><a href="/pmc/articles/PMC5716403" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormal%20rib%20morphology%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 (7)</a></div></div>
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</div>
|
||
</div></div></div></div></div></div></div>
|
||
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|
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|
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<div class="supplemental col three_col last">
|
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<h2 class="offscreen_noflow">Supplemental Content</h2>
|
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|
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|
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<div class="portlet mgSection" id="ID_113">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Genetic_Testing_Registry">Genetic Testing Registry</h1><a sid="106" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C1842083%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (15)</a></li>
|
||
<li><a href="/gtr/tests?term=C1842083%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (15)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C1842083%5bDISCUI%5d" target="_blank">See all (15)</a></total></li>
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<div class="portlet_content ln"><ul><li><a href="https://clinicaltrials.gov/search?cond=Abnormal%20rib%20morphology" target="_blank">ClinicalTrials.gov</a></li></ul></div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Practice_guidelines">Practice guidelines</h1><a sid="121" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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