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<!--
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||
UID=11613
|
||
ConceptID=C0038450
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Stridor</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>11613</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.">C0038450</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
||
<td>Stridors</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Stridor (70407001); Stridulous breathing (70407001)</td></tr>
|
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<tr><td colspan="2" class="small"> </td></tr><tr><td>HPO:</td>
|
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<td><a target="_blank" title="Human Phenotype Ontology" href="https://hpo.jax.org/app/browse/term/HP:0010307">HP:0010307</a></td></tr>
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<div class="portlet_content ln">Stridor is a high pitched sound resulting from turbulent air flow in the upper airway. [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 class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0038450[DISCUI]&test_type=Clinical" ref="ncbi_uid=11613">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=11613" ref="ncbi_uid=11613">V</a></span></span><span class="TLline">Stridor</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/867443" ref="tree=MeSH" title="MedGen record for Phenotypic abnormality">Phenotypic abnormality</a></span><ul><li><span class="TLline"><a href="/medgen/866322" ref="tree=MeSH" title="MedGen record for Abnormality of the respiratory system">Abnormality of the respiratory system</a></span><ul><li><span class="TLline"><a href="/medgen/220360" ref="tree=MeSH" title="MedGen record for Abnormal respiratory system physiology">Abnormal respiratory system physiology</a></span><ul><li><span class="TLline"><a href="/medgen/534078" ref="tree=MeSH" title="MedGen record for Abnormal breath sound">Abnormal breath sound</a></span><ul><li><span class="matched_ds">Stridor</span><ul><li><span class="TLline"><a href="/medgen/146165" ref="tree=MeSH" title="MedGen record for Inspiratory stridor">Inspiratory stridor</a></span><ul><li><span class="TLline"><a href="/medgen/78573" ref="tree=MeSH" title="MedGen record for Congenital laryngeal stridor">Congenital laryngeal stridor</a></span></li><li><span class="TLline"><a href="/medgen/870823" ref="tree=MeSH" title="MedGen record for Neonatal inspiratory stridor">Neonatal inspiratory stridor</a></span></li><li><span class="TLline"><a href="/medgen/870642" ref="tree=MeSH" title="MedGen record for Progressive inspiratory stridor">Progressive inspiratory stridor</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 mgSection" id="ID_112">
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||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Conditions_with_this_feature">Conditions with this feature</h1><a sid="112" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln clinfeat">
|
||
<div class="divPopper rprt" id="rdis_75551"><div><strong>Marshall-Smith syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>75551</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.">C0265211</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The Marshall-Smith syndrome (MRSHSS) is a malformation syndrome characterized by accelerated skeletal maturation, relative failure to thrive, respiratory difficulties, mental retardation, and unusual facies, including prominent forehead, shallow orbits, blue sclerae, depressed nasal bridge, and micrognathia (Adam et al., 2005).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/75551">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_78652"><div><strong>Gaucher disease type II</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>78652</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.">C0268250</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Gaucher disease (GD) encompasses a continuum of clinical findings from a perinatal-lethal disorder to an asymptomatic type. The characterization of three major clinical types (1, 2, and 3) and two clinical forms (perinatal-lethal and cardiovascular) is useful in determining prognosis and management. Cardiopulmonary complications have been described with all the clinical phenotypes, although varying in frequency and severity. Type 1 GD is characterized by the presence of clinical or radiographic evidence of bone disease (osteopenia, focal lytic or sclerotic lesions, and osteonecrosis), hepatosplenomegaly, anemia, thrombocytopenia, lung disease, and the absence of primary central nervous system disease. Type 2 GD is characterized by primary central nervous system disease with onset before age two years, limited psychomotor development, and a rapidly progressive course with death by age two to four years. Type 3 GD is characterized by primary central nervous system disease with childhood onset, a more slowly progressive course, and survival into the third or fourth decade. The perinatal-lethal form is associated with ichthyosiform or collodion skin abnormalities or with nonimmune hydrops fetalis. The cardiovascular form is characterized by calcification of the aortic and mitral valves, mild splenomegaly, corneal opacities, and supranuclear ophthalmoplegia.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/78652">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_96004"><div><strong>Congenital laryngeal abductor palsy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>96004</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.">C0396059</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Laryngeal abductor paralysis is an autosomal dominant condition characterized by variable penetrance and expressivity ranging from mild symptoms to neonatal asphyxia. (summary by Morelli et al., 1982; Manaligod and Smith, 1998).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/96004">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_148283"><div><strong>Scapuloperoneal spinal muscular atrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>148283</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.">C0751335</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The autosomal dominant TRPV4 disorders (previously considered to be clinically distinct phenotypes before their molecular basis was discovered) are now grouped into neuromuscular disorders and skeletal dysplasias; however, the overlap within each group is considerable. Affected individuals typically have either neuromuscular or skeletal manifestations alone, and in only rare instances an overlap syndrome has been reported. The three autosomal dominant neuromuscular disorders (mildest to most severe) are: Charcot-Marie-Tooth disease type 2C. Scapuloperoneal spinal muscular atrophy. Congenital distal spinal muscular atrophy. The autosomal dominant neuromuscular disorders are characterized by a congenital-onset, static, or later-onset progressive peripheral neuropathy with variable combinations of laryngeal dysfunction (i.e., vocal fold paresis), respiratory dysfunction, and joint contractures. The six autosomal dominant skeletal dysplasias (mildest to most severe) are: Familial digital arthropathy-brachydactyly. Autosomal dominant brachyolmia. Spondylometaphyseal dysplasia, Kozlowski type. Spondyloepiphyseal dysplasia, Maroteaux type. Parastremmatic dysplasia. Metatropic dysplasia. The skeletal dysplasia is characterized by brachydactyly (in all 6); the five that are more severe have short stature that varies from mild to severe with progressive spinal deformity and involvement of the long bones and pelvis. In the mildest of the autosomal dominant TRPV4 disorders life span is normal; in the most severe it is shortened. Bilateral progressive sensorineural hearing loss (SNHL) can occur with both autosomal dominant neuromuscular disorders and skeletal dysplasias.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/148283">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_163239"><div><strong>Brown-Vialetto-van Laere syndrome 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>163239</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.">C0796274</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Brown-Vialetto-Van Laere syndrome is a rare autosomal recessive neurologic disorder characterized by sensorineural hearing loss and a variety of cranial nerve palsies, usually involving the motor components of the seventh and ninth to twelfth (more rarely the third, fifth, and sixth) cranial nerves. Spinal motor nerves and, less commonly, upper motor neurons are sometimes affected, giving a picture resembling amyotrophic lateral sclerosis (ALS; 105400). The onset of the disease is usually in the second decade, but earlier and later onset have been reported. Hearing loss tends to precede the onset of neurologic signs, mostly progressive muscle weakness causing respiratory compromise. However, patients with very early onset may present with bulbar palsy and may not develop hearing loss until later. The symptoms, severity, and disease duration are variable (summary by Green et al., 2010). Genetic Heterogeneity of Brown-Vialetto-Van Laere Syndrome See also BVVLS2 (614707), caused by mutation in the SLC52A2 gene (607882) on chromosome 8q.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/163239">Condition Record</a></div></div>
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||
<div class="divPopper rprt" id="rdis_322127"><div><strong>Van den Ende-Gupta syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>322127</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.">C1833136</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Van den Ende-Gupta syndrome (VDEGS) is an autosomal recessive disorder characterized by severe contractual arachnodactyly from birth and distinctive facial dysmorphism, including triangular face, malar hypoplasia, narrow nose, everted lips, and blepharophimosis. Skeletal anomalies include slender ribs, hooked clavicles, and dislocated radial head. There is no neurologic involvement (summary by Patel et al., 2014).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/322127">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_332428"><div><strong>Sudden infant death-dysgenesis of the testes syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>332428</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.">C1837371</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Sudden infant death with dysgenesis of the testes syndrome (SIDDT) is characterized by sudden cardiac or respiratory arrest, disordered testicular development, and neurologic dysfunction, and is uniformly fatal before 1 year of age (Slater et al., 2020).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/332428">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_342947"><div><strong>Charcot-Marie-Tooth disease axonal type 2C</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>342947</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.">C1853710</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 autosomal dominant TRPV4 disorders (previously considered to be clinically distinct phenotypes before their molecular basis was discovered) are now grouped into neuromuscular disorders and skeletal dysplasias; however, the overlap within each group is considerable. Affected individuals typically have either neuromuscular or skeletal manifestations alone, and in only rare instances an overlap syndrome has been reported. The three autosomal dominant neuromuscular disorders (mildest to most severe) are: Charcot-Marie-Tooth disease type 2C. Scapuloperoneal spinal muscular atrophy. Congenital distal spinal muscular atrophy. The autosomal dominant neuromuscular disorders are characterized by a congenital-onset, static, or later-onset progressive peripheral neuropathy with variable combinations of laryngeal dysfunction (i.e., vocal fold paresis), respiratory dysfunction, and joint contractures. The six autosomal dominant skeletal dysplasias (mildest to most severe) are: Familial digital arthropathy-brachydactyly. Autosomal dominant brachyolmia. Spondylometaphyseal dysplasia, Kozlowski type. Spondyloepiphyseal dysplasia, Maroteaux type. Parastremmatic dysplasia. Metatropic dysplasia. The skeletal dysplasia is characterized by brachydactyly (in all 6); the five that are more severe have short stature that varies from mild to severe with progressive spinal deformity and involvement of the long bones and pelvis. In the mildest of the autosomal dominant TRPV4 disorders life span is normal; in the most severe it is shortened. Bilateral progressive sensorineural hearing loss (SNHL) can occur with both autosomal dominant neuromuscular disorders and skeletal dysplasias.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/342947">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_354620"><div><strong>Camptomelic dysplasia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>354620</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:">C1861922</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">Campomelic dysplasia (CD) is a skeletal dysplasia characterized by distinctive facies, Pierre Robin sequence with cleft palate, shortening and bowing of long bones, and clubfeet. Other findings include laryngotracheomalacia with respiratory compromise and ambiguous genitalia or normal female external genitalia in most individuals with a 46,XY karyotype. Many affected infants die in the neonatal period; additional findings identified in long-term survivors include short stature, cervical spine instability with cord compression, progressive scoliosis, and hearing impairment.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/354620">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_358389"><div><strong>Hypothyroidism, congenital, nongoitrous, 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>358389</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.">C1869118</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
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<div class="spaceAbove">Congenital hypothyroidism can also occur as part of syndromes that affect other organs and tissues in the body. These forms of the condition are described as syndromic. Some common forms of syndromic hypothyroidism include Pendred syndrome, Bamforth-Lazarus syndrome, and brain-lung-thyroid syndrome.\n\nSigns and symptoms of congenital hypothyroidism result from the shortage of thyroid hormones. Affected babies may show no features of the condition, although some babies with congenital hypothyroidism are less active and sleep more than normal. They may have difficulty feeding and experience constipation. If untreated, congenital hypothyroidism can lead to intellectual disability and slow growth. In the United States and many other countries, all hospitals test newborns for congenital hypothyroidism. If treatment begins in the first two weeks after birth, infants usually develop normally.\n\nCongenital hypothyroidism occurs when the thyroid gland fails to develop or function properly. In 80 to 85 percent of cases, the thyroid gland is absent, severely reduced in size (hypoplastic), or abnormally located. These cases are classified as thyroid dysgenesis. In the remainder of cases, a normal-sized or enlarged thyroid gland (goiter) is present, but production of thyroid hormones is decreased or absent. Most of these cases occur when one of several steps in the hormone synthesis process is impaired; these cases are classified as thyroid dyshormonogenesis. Less commonly, reduction or absence of thyroid hormone production is caused by impaired stimulation of the production process (which is normally done by a structure at the base of the brain called the pituitary gland), even though the process itself is unimpaired. These cases are classified as central (or pituitary) hypothyroidism.\n\nCongenital hypothyroidism is a partial or complete loss of function of the thyroid gland (hypothyroidism) that affects infants from birth (congenital). The thyroid gland is a butterfly-shaped tissue in the lower neck. It makes iodine-containing hormones that play an important role in regulating growth, brain development, and the rate of chemical reactions in the body (metabolism). People with congenital hypothyroidism have lower-than-normal levels of these important hormones.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/358389">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_444151"><div><strong>Potassium-aggravated myotonia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>444151</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.">C2931826</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">In a report on the 37th ENMC Workshop, Rudel and Lehmann-Horn (1997) stated that the sodium channelopathies can be divided into 3 different forms: paramyotonia, potassium-aggravated myotonia, and periodic paralysis. Potassium-aggravated myotonia includes mild myotonia fluctuans, severe myotonia permanens, and acetazolamide-responsive myotonia.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/444151">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_761278"><div><strong>Hereditary sensory and autonomic neuropathy type 6</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>761278</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.">C3539003</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Hereditary sensory and autonomic neuropathy type VI (HSAN6) is a severe autosomal recessive disorder characterized by neonatal hypotonia, respiratory and feeding difficulties, lack of psychomotor development, and autonomic abnormalities including labile cardiovascular function, lack of corneal reflexes leading to corneal scarring, areflexia, and absent axonal flare response after intradermal histamine injection (summary by Edvardson et al., 2012). For a discussion of genetic heterogeneity of hereditary sensory and autonomic neuropathy, see HSAN1 (162400).</div>
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||
<div class="spaceAbove nowrap">See: <a href="/medgen/761278">Condition Record</a></div></div>
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||
<div class="divPopper rprt" id="rdis_816385"><div><strong>Combined oxidative phosphorylation deficiency 19</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>816385</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.">C3810055</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the LYRM4 gene.</div>
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||
<div class="spaceAbove nowrap">See: <a href="/medgen/816385">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_934661"><div><strong>Congenital myasthenic syndrome 20</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>934661</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.">C4310694</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Congenital myasthenic syndrome-20 is an autosomal recessive neuromuscular disorder characterized by severe hypotonia associated with episodic apnea soon after birth. Patients have muscle weakness resulting in delayed walking, ptosis, poor sucking and swallowing, and generalized limb fatigability and weakness. EMG studies usually show a decremental response to repetitive nerve stimulation, and some patients may show a good response to AChE inhibitors (summary by Bauche et al., 2016). For a discussion of genetic heterogeneity of CMS, see CMS1A (601462).</div>
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||
<div class="spaceAbove nowrap">See: <a href="/medgen/934661">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_934664"><div><strong>Frontometaphyseal dysplasia 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>934664</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.">C4310697</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Frontometaphyseal dysplasia (FMD) is a progressive sclerosing skeletal dysplasia characterized by supraorbital hyperostosis, undermodeling of the small bones, and small and large joint contractures, as well as extraskeletal developmental abnormalities, primarily of the cardiorespiratory system and genitourinary tract. Patients with FMD2 appear to have a propensity for keloid formation (summary by Wade et al., 2016). For a discussion of genetic heterogeneity of frontometaphyseal dysplasia, see FMD1 (305620).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/934664">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_934741"><div><strong>Intellectual disability, autosomal dominant 42</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>934741</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.">C4310774</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">GNB1 encephalopathy (GNB1-E) is characterized by moderate-to-severe developmental delay / intellectual disability, structural brain abnormalities, and often infantile hypotonia and seizures. Other less common findings include dystonia, reduced vision, behavior issues, growth delay, gastrointestinal (GI) problems, genitourinary (GU) abnormalities in males, and cutaneous mastocytosis.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/934741">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_1748867"><div><strong>Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1748867</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.">C5399977</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Mitochondrial complex IV deficiency nuclear type 2 (MC4DN2) is an autosomal recessive multisystem metabolic disorder characterized by the onset of symptoms at birth or in the first weeks or months of life. Affected individuals have severe hypotonia, often associated with feeding difficulties and respiratory insufficiency necessitating tube feeding and mechanical ventilation. The vast majority of patients develop hypertrophic cardiomyopathy in the first days or weeks of life, which usually leads to death in infancy or early childhood. Patients also show neurologic abnormalities, including developmental delay, nystagmus, fasciculations, dystonia, EEG changes, and brain imaging abnormalities compatible with a diagnosis of Leigh syndrome (see 256000). There may also be evidence of systemic involvement with hepatomegaly and myopathy, although neurogenic muscle atrophy is more common and may resemble spinal muscular atrophy type I (SMA1; 253300). Serum lactate is increased, and laboratory studies show decreased mitochondrial complex IV protein and activity levels in various tissues, including heart and skeletal muscle. Most patients die in infancy of cardiorespiratory failure (summary by Papadopoulou et al., 1999). For a discussion of genetic heterogeneity of mitochondrial complex IV (cytochrome c oxidase) deficiency, see 220110.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/1748867">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_1794213"><div><strong>Charcot-Marie-Tooth disease, axonal, Type 2HH</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1794213</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.">C5562003</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Axonal Charcot-Marie-Tooth disease type 2HH (CMT2HH) is an autosomal dominant peripheral neuropathy characterized predominantly by onset of vocal cord weakness resulting in stridor in infancy or early childhood. The vocal cord paresis remains throughout life and may be severe enough to require tracheostomy. Additional features of the disorder usually include pes cavus and scoliosis. Some patients have mild distal muscle weakness and atrophy primarily affecting the lower limbs, although the upper limbs may also be involved, and distal sensory impairment, often with hyporeflexia (Sullivan et al., 2020). For a discussion of genetic heterogeneity of axonal CMT, see CMT2A1 (118210).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/1794213">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_1802316"><div><strong>D,L-2-hydroxyglutaric aciduria</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1802316</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.">C5574940</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Combined D-2- and L-2-hydroxyglutaric aciduria (D2L2AD) is an autosomal recessive neurometabolic disorder characterized by neonatal-onset encephalopathy with severe muscular weakness, intractable seizures, respiratory distress, and lack of psychomotor development resulting in early death. Brain imaging shows abnormalities including enlarged ventricles, delayed myelination, and germinal layer cysts (Muntau et al., 2000). See also isolated L-2-hydroxyglutaric aciduria (236792) and isolated D-2-hydroxyglutaric aciduria (see 600721).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/1802316">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_1823986"><div><strong>Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1823986</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.">C5774213</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 clinical manifestations of CACNA1C-related disorders include a spectrum of nonsyndromic and syndromic phenotypes, which generally correlate with the impact of the pathogenic variant on calcium current. Phenotypes can include nonsyndromic long QT syndrome (rate-corrected QT [QTc] interval >480 ms); nonsyndromic short QT syndrome (QTc <350 ms), with risk of sudden death; Brugada syndrome (ST segment elevation in right precordial leads [V1-V2]) with short QT interval; classic Timothy syndrome (prolonged QT interval, autism, and congenital heart defect) with or without unilateral or bilateral cutaneous syndactyly variably involving fingers two (index), three (middle), four (ring), and five (little) and bilateral cutaneous syndactyly of toes two and three; and CACNA1C-related neurodevelopmental disorder, in which the features tend to favor one or more of the following: developmental delay / intellectual disability, hypotonia, epilepsy, and/or ataxia.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/1823986">Condition Record</a></div></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_163239" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Brown-Vialetto-van Laere syndrome 1</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_354620" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Camptomelic dysplasia</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1748867" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_342947" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Charcot-Marie-Tooth disease axonal type 2C</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1794213" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Charcot-Marie-Tooth disease, axonal, Type 2HH</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (21)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_816385" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Combined oxidative phosphorylation deficiency 19</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_96004" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Congenital laryngeal abductor palsy</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_934661" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Congenital myasthenic syndrome 20</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1802316" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">D,L-2-hydroxyglutaric aciduria</a></div>
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<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>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_934664" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Frontometaphyseal dysplasia 2</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_78652" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Gaucher disease type II</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_761278" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hereditary sensory and autonomic neuropathy type 6</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_358389" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypothyroidism, congenital, nongoitrous, 2</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_934741" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Intellectual disability, autosomal dominant 42</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_75551" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Marshall-Smith syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1823986" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_444151" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Potassium-aggravated myotonia</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_148283" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Scapuloperoneal spinal muscular atrophy</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_332428" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Sudden infant death-dysgenesis of the testes syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_322127" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Van den Ende-Gupta 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/29763253">Croup: Diagnosis and Management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Smith DK,
|
||
McDermott AJ,
|
||
Sullivan JF</span><br />
|
||
<span class="medgenPMjournal">Am Fam Physician</span>
|
||
2018 May 1;97(9):575-580.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29763253" target="_blank">29763253</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29494321">Clinical Practice Guideline: Hoarseness (Dysphonia) (Update).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Stachler RJ,
|
||
Francis DO,
|
||
Schwartz SR,
|
||
Damask CC,
|
||
Digoy GP,
|
||
Krouse HJ,
|
||
McCoy SJ,
|
||
Ouellette DR,
|
||
Patel RR,
|
||
Reavis CCW,
|
||
Smith LJ,
|
||
Smith M,
|
||
Strode SW,
|
||
Woo P,
|
||
Nnacheta LC</span><br />
|
||
<span class="medgenPMjournal">Otolaryngol Head Neck Surg</span>
|
||
2018 Mar;158(1_suppl):S1-S42.
|
||
doi: 10.1177/0194599817751030.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29494321" target="_blank">29494321</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24596395">Viral croup: diagnosis and a treatment algorithm.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Petrocheilou A,
|
||
Tanou K,
|
||
Kalampouka E,
|
||
Malakasioti G,
|
||
Giannios C,
|
||
Kaditis AG</span><br />
|
||
<span class="medgenPMjournal">Pediatr Pulmonol</span>
|
||
2014 May;49(5):421-9.
|
||
Epub 2014 Mar 5
|
||
doi: 10.1002/ppul.22993.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24596395" target="_blank">24596395</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22stridor%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 (169)</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/39515896">Tracheal Resection for Post-intubation/Post-tracheostomy Tracheal Stenosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Crane J,
|
||
Endo T,
|
||
Fox M</span><br />
|
||
<span class="medgenPMjournal">Thorac Surg Clin</span>
|
||
2025 Feb;35(1):61-72.
|
||
Epub 2024 Oct 5
|
||
doi: 10.1016/j.thorsurg.2024.09.001.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39515896" target="_blank">39515896</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27107728">International Pediatric ORL Group (IPOG) laryngomalacia consensus recommendations.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Carter J,
|
||
Rahbar R,
|
||
Brigger M,
|
||
Chan K,
|
||
Cheng A,
|
||
Daniel SJ,
|
||
De Alarcon A,
|
||
Garabedian N,
|
||
Hart C,
|
||
Hartnick C,
|
||
Jacobs I,
|
||
Liming B,
|
||
Nicollas R,
|
||
Pransky S,
|
||
Richter G,
|
||
Russell J,
|
||
Rutter MJ,
|
||
Schilder A,
|
||
Smith RJ,
|
||
Strychowsky J,
|
||
Ward R,
|
||
Watters K,
|
||
Wyatt M,
|
||
Zalzal G,
|
||
Zur K,
|
||
Thompson D</span><br />
|
||
<span class="medgenPMjournal">Int J Pediatr Otorhinolaryngol</span>
|
||
2016 Jul;86:256-61.
|
||
Epub 2016 Apr 7
|
||
doi: 10.1016/j.ijporl.2016.04.007.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27107728" target="_blank">27107728</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23905826">Laryngomalacia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dobbie AM,
|
||
White DR</span><br />
|
||
<span class="medgenPMjournal">Pediatr Clin North Am</span>
|
||
2013 Aug;60(4):893-902.
|
||
Epub 2013 Jun 14
|
||
doi: 10.1016/j.pcl.2013.04.013.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23905826" target="_blank">23905826</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22472238">Pediatric supraglottoplasty.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ambrosio A,
|
||
Brigger MT</span><br />
|
||
<span class="medgenPMjournal">Adv Otorhinolaryngol</span>
|
||
2012;73:101-4.
|
||
Epub 2012 Mar 29
|
||
doi: 10.1159/000334455.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22472238" target="_blank">22472238</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9373076">State-dependent laryngomalacia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Amin MR,
|
||
Isaacson G</span><br />
|
||
<span class="medgenPMjournal">Ann Otol Rhinol Laryngol</span>
|
||
1997 Nov;106(11):887-90.
|
||
doi: 10.1177/000348949710601101.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9373076" target="_blank">9373076</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Stridor%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 (1188)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35337542">Recurrent Croup.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Quraishi H,
|
||
Lee DJ</span><br />
|
||
<span class="medgenPMjournal">Pediatr Clin North Am</span>
|
||
2022 Apr;69(2):319-328.
|
||
doi: 10.1016/j.pcl.2021.12.004.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35337542" target="_blank">35337542</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32633776">Medical Management of Epiglottitis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dowdy RAE,
|
||
Cornelius BW</span><br />
|
||
<span class="medgenPMjournal">Anesth Prog</span>
|
||
2020 Jun 1;67(2):90-97.
|
||
doi: 10.2344/anpr-66-04-08.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32633776" target="_blank">32633776</a><a href="/pmc/articles/PMC7342809" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31680234">Acute subglottic laryngitis. Etiology, epidemiology, pathogenesis and clinical picture.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mazurek H,
|
||
Bręborowicz A,
|
||
Doniec Z,
|
||
Emeryk A,
|
||
Krenke K,
|
||
Kulus M,
|
||
Zielnik-Jurkiewicz B</span><br />
|
||
<span class="medgenPMjournal">Adv Respir Med</span>
|
||
2019;87(5):308-316.
|
||
doi: 10.5603/ARM.2019.0056.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31680234" target="_blank">31680234</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24596395">Viral croup: diagnosis and a treatment algorithm.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Petrocheilou A,
|
||
Tanou K,
|
||
Kalampouka E,
|
||
Malakasioti G,
|
||
Giannios C,
|
||
Kaditis AG</span><br />
|
||
<span class="medgenPMjournal">Pediatr Pulmonol</span>
|
||
2014 May;49(5):421-9.
|
||
Epub 2014 Mar 5
|
||
doi: 10.1002/ppul.22993.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24596395" target="_blank">24596395</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23905826">Laryngomalacia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dobbie AM,
|
||
White DR</span><br />
|
||
<span class="medgenPMjournal">Pediatr Clin North Am</span>
|
||
2013 Aug;60(4):893-902.
|
||
Epub 2013 Jun 14
|
||
doi: 10.1016/j.pcl.2013.04.013.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23905826" target="_blank">23905826</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Stridor%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 (1997)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39515896">Tracheal Resection for Post-intubation/Post-tracheostomy Tracheal Stenosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Crane J,
|
||
Endo T,
|
||
Fox M</span><br />
|
||
<span class="medgenPMjournal">Thorac Surg Clin</span>
|
||
2025 Feb;35(1):61-72.
|
||
Epub 2024 Oct 5
|
||
doi: 10.1016/j.thorsurg.2024.09.001.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39515896" target="_blank">39515896</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/38364547">Characteristics and outcomes of interventions for pediatric laryngomalacia: A systematic review with meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mills JF,
|
||
Monaghan NP,
|
||
Nguyen SA,
|
||
Nguyen CL,
|
||
Clemmens CS,
|
||
Carroll WW,
|
||
Pecha PP,
|
||
White DR</span><br />
|
||
<span class="medgenPMjournal">Int J Pediatr Otorhinolaryngol</span>
|
||
2024 Mar;178:111896.
|
||
Epub 2024 Feb 12
|
||
doi: 10.1016/j.ijporl.2024.111896.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38364547" target="_blank">38364547</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29763253">Croup: Diagnosis and Management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Smith DK,
|
||
McDermott AJ,
|
||
Sullivan JF</span><br />
|
||
<span class="medgenPMjournal">Am Fam Physician</span>
|
||
2018 May 1;97(9):575-580.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29763253" target="_blank">29763253</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24596395">Viral croup: diagnosis and a treatment algorithm.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Petrocheilou A,
|
||
Tanou K,
|
||
Kalampouka E,
|
||
Malakasioti G,
|
||
Giannios C,
|
||
Kaditis AG</span><br />
|
||
<span class="medgenPMjournal">Pediatr Pulmonol</span>
|
||
2014 May;49(5):421-9.
|
||
Epub 2014 Mar 5
|
||
doi: 10.1002/ppul.22993.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24596395" target="_blank">24596395</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19942129">Postintubation tracheal stenosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wain JC Jr</span><br />
|
||
<span class="medgenPMjournal">Semin Thorac Cardiovasc Surg</span>
|
||
2009 Fall;21(3):284-9.
|
||
doi: 10.1053/j.semtcvs.2009.08.001.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19942129" target="_blank">19942129</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Stridor%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 (967)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/30396420">Neonatal Stridor: Diagnosis and Management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bhatt J,
|
||
Prager JD</span><br />
|
||
<span class="medgenPMjournal">Clin Perinatol</span>
|
||
2018 Dec;45(4):817-831.
|
||
Epub 2018 Sep 24
|
||
doi: 10.1016/j.clp.2018.07.015.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30396420" target="_blank">30396420</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25213283">Pediatric stridor.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ida JB,
|
||
Thompson DM</span><br />
|
||
<span class="medgenPMjournal">Otolaryngol Clin North Am</span>
|
||
2014 Oct;47(5):795-819.
|
||
Epub 2014 Aug 7
|
||
doi: 10.1016/j.otc.2014.06.005.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25213283" target="_blank">25213283</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19942129">Postintubation tracheal stenosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wain JC Jr</span><br />
|
||
<span class="medgenPMjournal">Semin Thorac Cardiovasc Surg</span>
|
||
2009 Fall;21(3):284-9.
|
||
doi: 10.1053/j.semtcvs.2009.08.001.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19942129" target="_blank">19942129</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/18435998">Epiglottitis and croup.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sobol SE,
|
||
Zapata S</span><br />
|
||
<span class="medgenPMjournal">Otolaryngol Clin North Am</span>
|
||
2008 Jun;41(3):551-66, ix.
|
||
doi: 10.1016/j.otc.2008.01.012.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18435998" target="_blank">18435998</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9373076">State-dependent laryngomalacia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Amin MR,
|
||
Isaacson G</span><br />
|
||
<span class="medgenPMjournal">Ann Otol Rhinol Laryngol</span>
|
||
1997 Nov;106(11):887-90.
|
||
doi: 10.1177/000348949710601101.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9373076" target="_blank">9373076</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Stridor%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 (691)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38364547">Characteristics and outcomes of interventions for pediatric laryngomalacia: A systematic review with meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mills JF,
|
||
Monaghan NP,
|
||
Nguyen SA,
|
||
Nguyen CL,
|
||
Clemmens CS,
|
||
Carroll WW,
|
||
Pecha PP,
|
||
White DR</span><br />
|
||
<span class="medgenPMjournal">Int J Pediatr Otorhinolaryngol</span>
|
||
2024 Mar;178:111896.
|
||
Epub 2024 Feb 12
|
||
doi: 10.1016/j.ijporl.2024.111896.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38364547" target="_blank">38364547</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33077532">Exercise-induced laryngeal obstruction in children and adolescents: are we listening?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Welsh L,
|
||
Giannini A,
|
||
Massie J</span><br />
|
||
<span class="medgenPMjournal">Arch Dis Child Educ Pract Ed</span>
|
||
2021 Apr;106(2):66-70.
|
||
Epub 2020 Oct 19
|
||
doi: 10.1136/archdischild-2020-319454.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33077532" target="_blank">33077532</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19942129">Postintubation tracheal stenosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wain JC Jr</span><br />
|
||
<span class="medgenPMjournal">Semin Thorac Cardiovasc Surg</span>
|
||
2009 Fall;21(3):284-9.
|
||
doi: 10.1053/j.semtcvs.2009.08.001.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19942129" target="_blank">19942129</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15316518">Clinical features and severity grading of anaphylaxis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Brown SG</span><br />
|
||
<span class="medgenPMjournal">J Allergy Clin Immunol</span>
|
||
2004 Aug;114(2):371-6.
|
||
doi: 10.1016/j.jaci.2004.04.029.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15316518" target="_blank">15316518</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9373076">State-dependent laryngomalacia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Amin MR,
|
||
Isaacson G</span><br />
|
||
<span class="medgenPMjournal">Ann Otol Rhinol Laryngol</span>
|
||
1997 Nov;106(11):887-90.
|
||
doi: 10.1177/000348949710601101.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9373076" target="_blank">9373076</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Stridor%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 (578)</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/38181460">Familial congenital laryngotracheal stenosis: A systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Saniasiaya J,
|
||
van der Meer G,
|
||
Toll EC,
|
||
McCaffer C,
|
||
Barber C,
|
||
Neeff M</span><br />
|
||
<span class="medgenPMjournal">Int J Pediatr Otorhinolaryngol</span>
|
||
2024 Feb;177:111841.
|
||
Epub 2023 Dec 29
|
||
doi: 10.1016/j.ijporl.2023.111841.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38181460" target="_blank">38181460</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37419685">Prevalence of symptomatic tracheal morbidities after fetoscopic endoluminal tracheal occlusion: a systematic review and meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tho ALW,
|
||
Rath CP,
|
||
Tan JKG,
|
||
Rao SC</span><br />
|
||
<span class="medgenPMjournal">Arch Dis Child Fetal Neonatal Ed</span>
|
||
2023 Dec 15;109(1):52-58.
|
||
doi: 10.1136/archdischild-2023-325525.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37419685" target="_blank">37419685</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33160405">Performance of the cuff leak test in adults in predicting post-extubation airway complications: a systematic review and meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kuriyama A,
|
||
Jackson JL,
|
||
Kamei J</span><br />
|
||
<span class="medgenPMjournal">Crit Care</span>
|
||
2020 Nov 7;24(1):640.
|
||
doi: 10.1186/s13054-020-03358-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33160405" target="_blank">33160405</a><a href="/pmc/articles/PMC7648377" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26968058">A systematic review of the evidence on spontaneous resolution of laryngomalacia and its symptoms.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Isaac A,
|
||
Zhang H,
|
||
Soon SR,
|
||
Campbell S,
|
||
El-Hakim H</span><br />
|
||
<span class="medgenPMjournal">Int J Pediatr Otorhinolaryngol</span>
|
||
2016 Apr;83:78-83.
|
||
Epub 2016 Feb 2
|
||
doi: 10.1016/j.ijporl.2016.01.028.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26968058" target="_blank">26968058</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25263284">Croup.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Johnson DW</span><br />
|
||
<span class="medgenPMjournal">BMJ Clin Evid</span>
|
||
2014 Sep 29;2014
|
||
<span class="bold">PMID: </span><a href="/pubmed/25263284" target="_blank">25263284</a><a href="/pmc/articles/PMC4178284" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Stridor%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 (51)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
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|
||
|
||
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|
||
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|
||
|
||
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|
||
|
||
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|
||
</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
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|
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|
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C0038450%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (4)</a></li>
|
||
<li><a href="/gtr/tests?term=C0038450%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (4)</a></li>
|
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<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C0038450%5bDISCUI%5d" target="_blank">See all (4)</a></total></li>
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<div class="portlet_content ln"><ul><li><a href="https://clinicaltrials.gov/search?cond=Stridor" 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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<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22stridor%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(%22Stridor%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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<div class="portlet_content ln"><ul><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Stridor" target="_blank">MedlinePlus</a></li></ul></div>
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<a href="/pubmed/clinical?term=Stridor" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=2" target="_blank">PubMed Clinical Queries</a>
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<a href="/pubmed?term=Stridor%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=2" target="_blank">Reviews in PubMed</a>
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<h3>Related information</h3>
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<a class="brieflinkpopperctrl" href="/clinvar?LinkName=medgen_clinvar&from_uid=11613" ref="log$=recordlinks">ClinVar</a>
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<div class="brieflinkpop offscreen_noflow">Related medical variations</div>
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</li>
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<li class="brieflinkpopper">
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<a class="brieflinkpopperctrl" href="/gtr/tests?term=C0038450[DISCUI]" ref="log$=recordlinks">GTR</a>
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<div class="brieflinkpop offscreen_noflow">Related information in GTR</div>
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<li class="brieflinkpopper">
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<a class="brieflinkpopperctrl" href="/gtr/tests?term=C0038450[DISCUI]&test_type=Clinical" ref="log$=recordlinks">GTR(Clinical)</a>
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<div class="brieflinkpop offscreen_noflow">Clinical tests in GTR</div>
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<a class="brieflinkpopperctrl" href="/mesh?LinkName=medgen_mesh&from_uid=11613" ref="log$=recordlinks">MeSH</a>
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<div class="brieflinkpop offscreen_noflow">Related Medical Subject Headings</div>
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