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<!--
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UID=44181
|
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ConceptID=C0023882
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Spastic diplegia</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>44181</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.">C0023882</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome; Finding</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>Diplegia, Spastic; Diplegias, Spastic; Little Disease; Little's Disease; Spastic Diplegia; Spastic Diplegias</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Spastic diplegia (281411007)</td></tr>
|
||
<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:0001264">HP:0001264</a></td></tr>
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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">Spasticity (neuromuscular hypertonia) primarily in the muscles of the legs, hips, and pelvis. [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 mgSection" id="ID_118">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
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<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="TLline">Spastic diplegia</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/867380" ref="tree=MeSH" title="MedGen record for Abnormality of the musculature">Abnormality of the musculature</a></span><ul><li><span class="TLline"><a href="/medgen/868777" ref="tree=MeSH" title="MedGen record for Abnormal muscle physiology">Abnormal muscle physiology</a></span><ul><li><span class="TLline"><a href="/medgen/488941" ref="tree=MeSH" title="MedGen record for Abnormal muscle tone">Abnormal muscle tone</a></span><ul><li><span class="TLline"><a href="/medgen/10132" ref="tree=MeSH" title="MedGen record for Hypertonia">Hypertonia</a></span><ul><li><span class="TLline"><a href="/medgen/7753" ref="tree=MeSH" title="MedGen record for Spasticity">Spasticity</a></span><ul><li><span class="TLline"><a href="/medgen/937224" ref="tree=MeSH" title="MedGen record for Appendicular spasticity">Appendicular spasticity</a></span><ul><li><span class="matched_ds">Spastic diplegia</span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
|
||
</div>
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||
|
||
<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_75653"><div><strong>Purine-nucleoside phosphorylase deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>75653</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.">C0268125</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Purine nucleoside phosphorylase deficiency is a rare autosomal recessive immunodeficiency disorder characterized mainly by decreased T-cell function. Some patients also have neurologic impairment (review by Aust et al., 1992).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/75653">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_82815"><div><strong>Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>82815</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.">C0268540</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome is a disorder of the urea cycle and ornithine degradation pathway. Clinical manifestations and age of onset vary among individuals even in the same family. Neonatal onset (~8% of affected individuals). Manifestations of hyperammonemia usually begin 24-48 hours after feeding begins and can include lethargy, somnolence, refusal to feed, vomiting, tachypnea with respiratory alkalosis, and/or seizures. Infantile, childhood, and adult onset (~92%). Affected individuals may present with: Chronic neurocognitive deficits (including developmental delay, ataxia, spasticity, learning disabilities, cognitive deficits, and/or unexplained seizures); Acute encephalopathy secondary to hyperammonemic crisis precipitated by a variety of factors; and Chronic liver dysfunction (unexplained elevation of liver transaminases with or without mild coagulopathy, with or without mild hyperammonemia and protein intolerance). Neurologic findings and cognitive abilities can continue to deteriorate despite early metabolic control that prevents hyperammonemia.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/82815">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_75693"><div><strong>Saccharopinuria</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>75693</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.">C0268556</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Saccharopinuria, also known as hyperlysinemia type II, is an autosomal recessive metabolic condition with few, if any, clinical manifestations. Hyperlysinemia type II and hyperlysinemia type I (238700) both result from deficiency of the bifunctional enzyme AASS (605113) on chromosome 7q31. The AASS gene encodes lysine alpha-ketoglutarate reductase and saccharopine dehydrogenase, which catalyze, respectively, the sequential conversion of lysine to saccharopine and saccharopine to alpha-aminoadipic semialdehyde and glutamate (summary by Tondo et al., 2013). In hyperlysinemia type I, both enzymatic functions of AASS are defective and patients have increased serum lysine and possibly increased saccharopine; in hyperlysinemia type II, most of the first enzymatic function is retained, and patients tend to have isolated saccharopine increase (Cox, 1985; Cox et al., 1986).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/75693">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_124337"><div><strong>Glutaric aciduria, type 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>124337</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.">C0268595</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The phenotypic spectrum of untreated glutaric acidemia type 1 (GA-1) ranges from the more common form (infantile-onset disease) to the less common form (later-onset disease – i.e., after age 6 years). Of note, the GA-1 phenotype can vary widely between untreated family members with the same genotype, primarily as a function of the age at which the first acute encephalopathic crisis occurred: three months to six years in infantile-onset GA-1 and after age six years in later-onset GA-1. Characteristically these crises result in acute bilateral striatal injury and subsequent complex movement disorders. In the era of newborn screening (NBS), the prompt initiation of treatment of asymptomatic infants detected by NBS means that most individuals who would have developed manifestations of either infantile-onset or later-onset GA-1 remain asymptomatic; however, they may be at increased risk for other manifestations (e.g., renal disease) that are becoming apparent as the understanding of the natural history of treated GA-1 continues to evolve.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/124337">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_83336"><div><strong>Fetal iodine deficiency disorder</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>83336</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.">C0342200</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Severely reduced physical and mental growth associated with pyramidal and extrapyramidal signs and symptoms, due to dietary iodine deficiency.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/83336">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_162898"><div><strong>Microphthalmia, syndromic 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>162898</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.">C0796016</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Microphthalmia-ankyloblepharon-intellectual disability syndrome is characterized by microphthalmia, ankyloblepharon and intellectual deficit. It has been described in seven male patients from two generations of a Northern Ireland family. The causative gene is localized to the Xq27-q28 region. The syndrome is transmitted as an X-linked recessive trait.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/162898">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_234691"><div><strong>Paine syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>234691</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.">C1412041</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Mental retardation, microcephaly, spastic diplegia, seizures, and mild aminoaciduria are the principal features. Seemanova syndrome 1 and Paine syndrome are considered as variants of the same entity termed Paine-Seemanova syndrome.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/234691">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_333142"><div><strong>Warburg micro syndrome 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>333142</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.">C1838625</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">RAB18 deficiency is the molecular deficit underlying both Warburg micro syndrome (characterized by eye, nervous system, and endocrine abnormalities) and Martsolf syndrome (characterized by similar – but milder – findings). To date Warburg micro syndrome comprises >96% of reported individuals with genetically defined RAB18 deficiency. The hallmark ophthalmologic findings are bilateral congenital cataracts, usually accompanied by microphthalmia, microcornea (diameter <10), and small atonic pupils. Poor vision despite early cataract surgery likely results from progressive optic atrophy and cortical visual impairment. Individuals with Warburg micro syndrome have severe to profound intellectual disability (ID); those with Martsolf syndrome have mild to moderate ID. Some individuals with RAB18 deficiency also have epilepsy. In Warburg micro syndrome, a progressive ascending spastic paraplegia typically begins with spastic diplegia and contractures during the first year, followed by upper-limb involvement leading to spastic quadriplegia after about age five years, often eventually causing breathing difficulties. In Martsolf syndrome infantile hypotonia is followed primarily by slowly progressive lower-limb spasticity. Hypogonadism – when present – manifests in both syndromes, in males as micropenis and/or cryptorchidism and in females as hypoplastic labia minora, clitoral hypoplasia, and small introitus.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/333142">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_375009"><div><strong>Spondyloenchondrodysplasia with immune dysregulation</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>375009</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.">C1842763</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Spondyloenchondrodysplasia with immune dysregulation (SPENCDI) is an immunoosseous dysplasia combining the typical metaphyseal and vertebral bone lesions of spondyloenchondrodysplasia (SPENCD) with immune dysfunction and neurologic involvement. The skeletal dysplasia is characterized by radiolucent and irregular spondylar and metaphyseal lesions that represent islands of chondroid tissue within bone. The vertebral bodies show dorsally accentuated platyspondyly with disturbance of ossification. Clinical abnormalities such as short stature, rhizomelic micromelia, increased lumbar lordosis, barrel chest, facial anomalies, and clumsy movements may be present (Menger et al., 1989). Central nervous system involvement includes spasticity, mental retardation, and cerebral calcifications, and immune dysregulation ranges from autoimmunity to immunodeficiency. Neurologic and autoimmune manifestations have been observed in different combinations within a single family, suggesting that this disorder may be defined by specific radiographic features but has remarkably pleiotropic manifestations (Renella et al., 2006). Briggs et al. (2016) also noted variability in skeletal, neurologic, and immune phenotypes, which was sometimes marked between members of the same family. Classification of the Enchondromatoses In their classification of the enchondromatoses, Spranger et al. (1978) called Ollier disease and Maffucci syndrome types I and II enchondromatosis, respectively; metachondromatosis (156250), type III; and spondyloenchondrodysplasia (SPENCD), also called spondyloenchondromatosis, type IV; enchondromatosis with irregular vertebral lesions, type V; and generalized enchondromatosis, type VI. Halal and Azouz (1991) added 3 tentative categories to the 6 in the classification of Spranger et al. (1978). Pansuriya et al. (2010) suggested a new classification of enchondromatosis (multiple enchondromas).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/375009">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_376526"><div><strong>Spastic diplegia and intellectual disability</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>376526</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.">C1849139</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/376526">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_340516"><div><strong>Oculorenocerebellar syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>340516</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.">C1850331</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A rare multiple congenital anomalies/dysmorphic syndrome with characteristics of profound intellectual disability, choreoathetosis, progressive spastic diplegia, progressive tapetoretinal degeneration with loss of retinal vessels and glomerulopathy resulting in death late in the first or early in the second decade of life. Absence of the cerebellar granular layer has been reported.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/340516">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_347333"><div><strong>Epilepsy, photogenic, with spastic diplegia and intellectual disability</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>347333</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.">C1856931</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/347333">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_341670"><div><strong>Encephalomalacia, multilocular</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>341670</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.">C1856991</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/341670">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_347232"><div><strong>Anophthalmia/microphthalmia-esophageal atresia syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>347232</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:">C1859773</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The phenotypic spectrum of SOX2 disorder includes anophthalmia and/or microphthalmia, brain malformations, developmental delay / intellectual disability, esophageal atresia, hypogonadotropic hypogonadism (manifest as cryptorchidism and micropenis in males, gonadal dysgenesis infrequently in females, and delayed puberty in both sexes), pituitary hypoplasia, postnatal growth delay, hypotonia, seizures, and spastic or dystonic movements.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/347232">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_349246"><div><strong>Amyotrophic lateral sclerosis type 2, juvenile</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>349246</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.">C1859807</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">ALS2-related disorder involves retrograde degeneration of the upper motor neurons of the pyramidal tracts and comprises a clinical continuum of the following three phenotypes: Infantile ascending hereditary spastic paraplegia (IAHSP), characterized by onset of spasticity with increased reflexes and sustained clonus of the lower limbs within the first two years of life, progressive weakness and spasticity of the upper limbs by age seven to eight years, and wheelchair dependence in the second decade with progression toward severe spastic tetraparesis and a pseudobulbar syndrome caused by progressive cranial nerve involvement. Juvenile primary lateral sclerosis (JPLS), characterized by upper motor neuron findings of pseudobulbar palsy and spastic quadriplegia without dementia or cerebellar, extrapyramidal, or sensory signs. Juvenile amyotrophic lateral sclerosis (JALS or ALS2), characterized by onset between ages three and 20 years. All affected individuals show a spastic pseudobulbar syndrome (spasticity of speech and swallowing) together with spastic paraplegia. Some individuals are bedridden by age 12 to 50 years.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/349246">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_394425"><div><strong>Intellectual disability, X-linked syndromic, Turner type</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>394425</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.">C2678046</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Turner-type X-linked syndromic intellectual developmental disorder (MRXST) is a neurodevelopmental disorder with a highly variable phenotype. Some affected families show X-linked recessive inheritance, with only males being affected and carrier females having no abnormal findings. In other affected families, males are severely affected, and female mutation carriers show milder cognitive abnormalities or dysmorphic features. In addition, there are female patients with de novo mutations who show the full phenotype, despite skewed X-chromosome inactivation. Affected individuals show global developmental delay from infancy, with variably impaired intellectual development and poor or absent speech, often with delayed walking. Dysmorphic features are common and can include macrocephaly, microcephaly, deep-set eyes, hypotelorism, small palpebral fissures, dysplastic, large, or low-set ears, long face, bitemporal narrowing, high-arched palate, thin upper lip, and scoliosis or mild distal skeletal anomalies, such as brachydactyly or tapered fingers. Males tend to have cryptorchidism. Other features, such as hypotonia, seizures, and delayed bone age, are more variable (summary by Moortgat et al., 2018).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/394425">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_412536"><div><strong>Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>412536</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.">C2746068</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">FLNA deficiency is associated with a phenotypic spectrum that includes FLNA-related periventricular nodular heterotopia (Huttenlocher syndrome), congenital heart disease (patent ductus arteriosus, atrial and ventricular septal defects), valvular dystrophy, dilatation and rupture of the thoracic aorta, pulmonary disease (pulmonary hypertension, alveolar hypoplasia, emphysema, asthma, chronic bronchitis), gastrointestinal dysmotility and obstruction, joint hypermobility, and macrothrombocytopenia.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/412536">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_481844"><div><strong>Warburg micro syndrome 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>481844</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.">C3280214</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">RAB18 deficiency is the molecular deficit underlying both Warburg micro syndrome (characterized by eye, nervous system, and endocrine abnormalities) and Martsolf syndrome (characterized by similar – but milder – findings). To date Warburg micro syndrome comprises >96% of reported individuals with genetically defined RAB18 deficiency. The hallmark ophthalmologic findings are bilateral congenital cataracts, usually accompanied by microphthalmia, microcornea (diameter <10), and small atonic pupils. Poor vision despite early cataract surgery likely results from progressive optic atrophy and cortical visual impairment. Individuals with Warburg micro syndrome have severe to profound intellectual disability (ID); those with Martsolf syndrome have mild to moderate ID. Some individuals with RAB18 deficiency also have epilepsy. In Warburg micro syndrome, a progressive ascending spastic paraplegia typically begins with spastic diplegia and contractures during the first year, followed by upper-limb involvement leading to spastic quadriplegia after about age five years, often eventually causing breathing difficulties. In Martsolf syndrome infantile hypotonia is followed primarily by slowly progressive lower-limb spasticity. Hypogonadism – when present – manifests in both syndromes, in males as micropenis and/or cryptorchidism and in females as hypoplastic labia minora, clitoral hypoplasia, and small introitus.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/481844">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_767363"><div><strong>Severe intellectual disability-progressive spastic diplegia syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>767363</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.">C3554449</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">CTNNB1 neurodevelopmental disorder (CTNNB1-NDD) is characterized in all individuals by mild-to-profound cognitive impairment and in up to 39% of reported individuals by exudative vitreoretinopathy, an ophthalmologic finding consistent with familial exudative vitreoretinopathy (FEVR). Other common findings include truncal hypotonia, peripheral spasticity, dystonia, behavior problems, microcephaly, and refractive errors and strabismus. Less common features include intrauterine growth restriction, feeding difficulties, and scoliosis.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/767363">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_905660"><div><strong>Spasticity-ataxia-gait anomalies syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>905660</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.">C4225178</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Childhood-onset spasticity with hyperglycinemia is an autosomal recessive disorder characterized by onset of slowly progressive spasticity that results in impaired gait in the first decade of life. Imaging of the central nervous system shows leukodystrophy and/or lesions in the upper spinal cord. More variable features include visual defects and mild learning disabilities. Serum glycine is increased, but CSF glycine is only mildly increased or normal; serum lactate is normal. The disorder represents a form of 'variant' nonketotic hyperglycinemia and is distinct from classic nonketotic hyperglycinemia (NKH, or GCE; 605899), which is characterized by significantly increased CSF glycine. Several forms of 'variant' NKH, including SPAHGC, appear to result from defects of mitochondrial lipoate biosynthesis (summary by Baker et al., 2014).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/905660">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_895979"><div><strong>Intellectual disability, X-linked, syndromic 33</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>895979</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.">C4225418</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">X-linked syndromic intellectual developmental disorder-33 (MRXS33) is an X-linked recessive neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability, and characteristic facial features (summary by O'Rawe et al., 2015).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/895979">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_934608"><div><strong>Intellectual disability, autosomal recessive 58</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>934608</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.">C4310641</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the ELP2 gene.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/934608">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_934734"><div><strong>Cerebral palsy, spastic quadriplegic, 3</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>934734</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.">C4310767</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Any spastic quadriplegia in which the cause of the disease is a mutation in the ADD3 gene.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/934734">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1640257"><div><strong>Perrault syndrome 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1640257</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.">C4551721</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Perrault syndrome is characterized by sensorineural hearing loss (SNHL) in males and females and ovarian dysfunction in females. SNHL is bilateral and ranges from profound with prelingual (congenital) onset to moderate with early-childhood onset. When onset is in early childhood, hearing loss can be progressive. Ovarian dysfunction ranges from gonadal dysgenesis (absent or streak gonads) manifesting as primary amenorrhea to primary ovarian insufficiency (POI) defined as cessation of menses before age 40 years. Fertility in affected males is reported as normal (although the number of reported males is limited). Neurologic features described in some individuals with Perrault syndrome include learning difficulties and developmental delay, cerebellar ataxia, and motor and sensory peripheral neuropathy.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1640257">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1646861"><div><strong>Developmental and epileptic encephalopathy, 58</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1646861</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.">C4693367</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Developmental and epileptic encephalopathy-58 (DEE58) is a severe neurodevelopmental disorder characterized by the onset of infantile spasms and refractory seizures in the first days or months of life. Affected individuals have global developmental delay with impaired intellectual development, usually with absent speech and inability to walk. Additional features include optic atrophy with poor or absent visual fixation, hypotonia, feeding difficulties, and spasticity (summary by Hamdan et al., 2017). For a general phenotypic description and a discussion of genetic heterogeneity of DEE, see 308350.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1646861">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1667792"><div><strong>Hypomyelination with brain stem and spinal cord involvement and leg spasticity</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1667792</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.">C4755254</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hypomyelination with brainstem and spinal cord involvement and leg spasticity is an autosomal recessive leukoencephalopathy characterized by onset in the first year of life of severe spasticity, mainly affecting the lower limbs and resulting in an inability to achieve independent ambulation. Affected individuals show delayed motor development and nystagmus; some may have mild mental retardation. Brain MRI shows hypomyelination and white matter lesions in the cerebrum, brainstem, cerebellum, and spinal cord (summary by Taft et al., 2013).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1667792">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1732562"><div><strong>Mitochondrial complex 4 deficiency, nuclear type 21</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1732562</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.">C5436727</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Mitochondrial complex IV deficiency nuclear type 21 (MC4DN21) is an autosomal recessive multisystem metabolic disorder characterized by the onset of symptoms in infancy. Affected individuals present with congenital lactic acidosis and later show global developmental delay with delayed speech and learning disabilities. Additional features include motor dysfunction manifest as spasticity, dystonia, and pyramidal tract signs. Ataxia, peripheral neuropathy, and seizures may also occur. Brain imaging shows T2-weighted hyperintensities in subcortical regions, consistent with a clinical diagnosis of Leigh syndrome (see 256000). Patient tissues show variably decreased levels and activity of mitochondrial respiratory complex IV (Pitceathly et al., 2013). For a discussion of genetic heterogeneity of mitochondrial complex IV (cytochrome c oxidase) deficiency, see 220110.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1732562">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1778114"><div><strong>Martsolf syndrome 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1778114</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.">C5542298</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">RAB18 deficiency is the molecular deficit underlying both Warburg micro syndrome (characterized by eye, nervous system, and endocrine abnormalities) and Martsolf syndrome (characterized by similar – but milder – findings). To date Warburg micro syndrome comprises >96% of reported individuals with genetically defined RAB18 deficiency. The hallmark ophthalmologic findings are bilateral congenital cataracts, usually accompanied by microphthalmia, microcornea (diameter <10), and small atonic pupils. Poor vision despite early cataract surgery likely results from progressive optic atrophy and cortical visual impairment. Individuals with Warburg micro syndrome have severe to profound intellectual disability (ID); those with Martsolf syndrome have mild to moderate ID. Some individuals with RAB18 deficiency also have epilepsy. In Warburg micro syndrome, a progressive ascending spastic paraplegia typically begins with spastic diplegia and contractures during the first year, followed by upper-limb involvement leading to spastic quadriplegia after about age five years, often eventually causing breathing difficulties. In Martsolf syndrome infantile hypotonia is followed primarily by slowly progressive lower-limb spasticity. Hypogonadism – when present – manifests in both syndromes, in males as micropenis and/or cryptorchidism and in females as hypoplastic labia minora, clitoral hypoplasia, and small introitus.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1778114">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1779703"><div><strong>Martsolf syndrome 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1779703</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.">C5543626</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Martsolf syndrome-2 (MARTS2) is an autosomal recessive disorder with the main features of congenital cataracts, mildly to severely impaired intellectual development, and facial dysmorphism. Other features include brain malformations, microcephaly, and hypogonadism-hypogenitalism (summary by Koparir et al., 2019).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1779703">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1794167"><div><strong>Developmental delay, impaired speech, and behavioral abnormalities</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1794167</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.">C5561957</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Developmental delay, impaired speech, and behavioral abnormalities (DDISBA) is characterized by global developmental delay apparent from early childhood. Intellectual disability can range from mild to severe. Additional variable features may include dysmorphic facial features, seizures, hypotonia, motor abnormalities such as Tourette syndrome or dystonia, and hearing loss (summary by Cousin et al., 2021).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1794167">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1794176"><div><strong>Aicardi-Goutieres syndrome 9</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1794176</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.">C5561966</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Aicardi-Goutieres syndrome-9 (AGS9) is a type I interferonopathy characterized by severe developmental delay and progressive neurologic deterioration. Patients present in infancy with irritability and spasticity. Brain imaging shows diffusely abnormal white matter, cerebral atrophy, and intracranial calcification. Premature death has been associated with renal and/or hepatic failure (Uggenti et al., 2020). For a general phenotypic description and discussion of genetic heterogeneity of Aicardi-Goutieres syndrome, see AGS1 (225750).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1794176">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1794267"><div><strong>Trichothiodystrophy 8, nonphotosensitive</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1794267</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.">C5562057</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Nonphotosensitive trichothiodystrophy-8 (TTD8) is characterized by brittle hair and nails and scaly skin, accompanied by failure to thrive, microcephaly, and neuromotor developmental delay. Hair analysis shows low sulfur content, and skin fibroblasts demonstrate normal DNA repair efficiency after UV irradiation (Botta et al., 2021). For a general phenotypic description and discussion of genetic heterogeneity of trichothiodystrophy, see TTD1 (601675).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1794267">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1798947"><div><strong>Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1798947</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.">C5567524</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">TANGO2 deficiency is characterized by developmental delay, intellectual disability, gait incoordination, speech difficulties, seizures, and hypothyroidism. Most individuals have TANGO2 spells, non-life-threatening paroxysmal worsening of baseline symptoms, including sudden onset of hypotonia, ataxia with loss of balance, head and body tilt, increased dysarthria, drooling, lethargy, and disorientation. In addition, life-threatening acute metabolic crises can occur, including rhabdomyolysis with elevated creatine phosphokinase and liver transaminases, hypoglycemia, prolonged QTc on EKG, ventricular arrhythmias, and/or cardiomyopathy.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1798947">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1823961"><div><strong>Braddock-Carey syndrome 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1823961</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.">C5774188</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Braddock-Carey syndrome (BRDCS) is characterized by Pierre-Robin sequence, persistent congenital thrombocytopenia, agenesis of the corpus callosum, severe developmental delay, microcephaly, high forehead, sparse curly hair, downslanting palpebral fissures, telecanthus, inverted U-shaped upper vermilion, enamel hypoplasia, large posteriorly rotated ears, clinodactyly, and camptodactyly (Braddock et al., 2016). Genetic Heterogeneity of Braddock-Carey Syndrome BRDCS2 (619981) is caused by mutation in the KIF15 gene (617569) on chromosome 3p21.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1823961">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1824083"><div><strong>Tessadori-Van Haaften neurodevelopmental syndrome 3</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1824083</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.">C5774310</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Tessadori-Bicknell-van Haaften neurodevelopmental syndrome-3 (TEBIVANED3) is characterized by global developmental delay with poor overall growth, impaired intellectual development, and speech difficulties. More variable features include hypotonia, microcephaly, and dysmorphic facies. The severity and manifestations of the disorder are highly variable (Tessadori et al., 2022). For a discussion of genetic heterogeneity of Tessadori-Bicknell-van Haaften neurodevelopmental disorder, see TEBIVANED1 (619758).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1824083">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1854654"><div><strong>Neurodevelopmental disorder with hypotonia, brain anomalies, distinctive facies, and absent language</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1854654</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.">C5935628</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">ReNU syndrome (RENU), also known as neurodevelopmental disorder with hypotonia, brain anomalies, distinctive facies, and absent language (NEDHAFA), is characterized by hypotonia, global developmental delay, severely impaired intellectual development with poor or absent speech, delayed walking or inability to walk, feeding difficulties with poor overall growth, seizures (in most), dysmorphic facial features, and brain anomalies, including ventriculomegaly, thin corpus callosum, and progressive white matter loss (Greene et al., 2024; Schot et al., 2024; Chen et al., 2024).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1854654">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1794176" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Aicardi-Goutieres syndrome 9</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_349246" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Amyotrophic lateral sclerosis type 2, juvenile</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_347232" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Anophthalmia/microphthalmia-esophageal atresia syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1823961" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Braddock-Carey syndrome 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_934734" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cerebral palsy, spastic quadriplegic, 3</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (36)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1646861" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Developmental and epileptic encephalopathy, 58</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1794167" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Developmental delay, impaired speech, and behavioral abnormalities</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_341670" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Encephalomalacia, multilocular</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_347333" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Epilepsy, photogenic, with spastic diplegia and intellectual disability</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_83336" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Fetal iodine deficiency disorder</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_124337" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Glutaric aciduria, type 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_82815" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1667792" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypomyelination with brain stem and spinal cord involvement and leg spasticity</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_934608" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Intellectual disability, autosomal recessive 58</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_394425" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Intellectual disability, X-linked syndromic, Turner type</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_895979" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Intellectual disability, X-linked, syndromic 33</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_412536" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1778114" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Martsolf syndrome 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1779703" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Martsolf syndrome 2</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_162898" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Microphthalmia, syndromic 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1732562" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mitochondrial complex 4 deficiency, nuclear type 21</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1854654" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neurodevelopmental disorder with hypotonia, brain anomalies, distinctive facies, and absent language</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_340516" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Oculorenocerebellar syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_234691" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Paine syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1640257" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Perrault syndrome 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_75653" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Purine-nucleoside phosphorylase deficiency</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1798947" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_75693" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Saccharopinuria</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_767363" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Severe intellectual disability-progressive spastic diplegia syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_376526" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spastic diplegia and intellectual disability</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_905660" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spasticity-ataxia-gait anomalies syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_375009" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spondyloenchondrodysplasia with immune dysregulation</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1824083" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Tessadori-Van Haaften neurodevelopmental syndrome 3</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1794267" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Trichothiodystrophy 8, nonphotosensitive</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_333142" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Warburg micro syndrome 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_481844" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Warburg micro syndrome 2</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/29412426">SELECTIVE DORSAL RHIZOTOMY IN CEREBRAL PALSY: SELECTION CRITERIA AND POSTOPERATIVE PHYSICAL THERAPY PROTOCOLS.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nicolini-Panisson RD,
|
||
Tedesco AP,
|
||
Folle MR,
|
||
Donadio MVF</span><br />
|
||
<span class="medgenPMjournal">Rev Paul Pediatr</span>
|
||
2018 Jan-Mar;36(1):9.
|
||
Epub 2018 Jan 15
|
||
doi: 10.1590/1984-0462/;2018;36;1;00005.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29412426" target="_blank">29412426</a><a href="/pmc/articles/PMC5849370" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25700542">The differential diagnosis of spastic diplegia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Huntsman R,
|
||
Lemire E,
|
||
Norton J,
|
||
Dzus A,
|
||
Blakley P,
|
||
Hasal S</span><br />
|
||
<span class="medgenPMjournal">Arch Dis Child</span>
|
||
2015 May;100(5):500-4.
|
||
Epub 2014 Nov 18
|
||
doi: 10.1136/archdischild-2014-307443.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25700542" target="_blank">25700542</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/5059475">Management of spastic diplegia by the physiatrist.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bender LF,
|
||
Bender NM</span><br />
|
||
<span class="medgenPMjournal">Mich Med</span>
|
||
1972 Feb;71(5):109-12.
|
||
<span class="bold">PMID: </span><a href="/pubmed/5059475" target="_blank">5059475</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22spastic%20diplegia%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 (27)</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/32979048">Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ebrahimi-Fakhari D,
|
||
Teinert J,
|
||
Behne R,
|
||
Wimmer M,
|
||
D'Amore A,
|
||
Eberhardt K,
|
||
Brechmann B,
|
||
Ziegler M,
|
||
Jensen DM,
|
||
Nagabhyrava P,
|
||
Geisel G,
|
||
Carmody E,
|
||
Shamshad U,
|
||
Dies KA,
|
||
Yuskaitis CJ,
|
||
Salussolia CL,
|
||
Ebrahimi-Fakhari D,
|
||
Pearson TS,
|
||
Saffari A,
|
||
Ziegler A,
|
||
Kölker S,
|
||
Volkmann J,
|
||
Wiesener A,
|
||
Bearden DR,
|
||
Lakhani S,
|
||
Segal D,
|
||
Udwadia-Hegde A,
|
||
Martinuzzi A,
|
||
Hirst J,
|
||
Perlman S,
|
||
Takiyama Y,
|
||
Xiromerisiou G,
|
||
Vill K,
|
||
Walker WO,
|
||
Shukla A,
|
||
Dubey Gupta R,
|
||
Dahl N,
|
||
Aksoy A,
|
||
Verhelst H,
|
||
Delgado MR,
|
||
Kremlikova Pourova R,
|
||
Sadek AA,
|
||
Elkhateeb NM,
|
||
Blumkin L,
|
||
Brea-Fernández AJ,
|
||
Dacruz-Álvarez D,
|
||
Smol T,
|
||
Ghoumid J,
|
||
Miguel D,
|
||
Heine C,
|
||
Schlump JU,
|
||
Langen H,
|
||
Baets J,
|
||
Bulk S,
|
||
Darvish H,
|
||
Bakhtiari S,
|
||
Kruer MC,
|
||
Lim-Melia E,
|
||
Aydinli N,
|
||
Alanay Y,
|
||
El-Rashidy O,
|
||
Nampoothiri S,
|
||
Patel C,
|
||
Beetz C,
|
||
Bauer P,
|
||
Yoon G,
|
||
Guillot M,
|
||
Miller SP,
|
||
Bourinaris T,
|
||
Houlden H,
|
||
Robelin L,
|
||
Anheim M,
|
||
Alamri AS,
|
||
Mahmoud AAH,
|
||
Inaloo S,
|
||
Habibzadeh P,
|
||
Faghihi MA,
|
||
Jansen AC,
|
||
Brock S,
|
||
Roubertie A,
|
||
Darras BT,
|
||
Agrawal PB,
|
||
Santorelli FM,
|
||
Gleeson J,
|
||
Zaki MS,
|
||
Sheikh SI,
|
||
Bennett JT,
|
||
Sahin M</span><br />
|
||
<span class="medgenPMjournal">Brain</span>
|
||
2020 Oct 1;143(10):2929-2944.
|
||
doi: 10.1093/brain/awz307.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32979048" target="_blank">32979048</a><a href="/pmc/articles/PMC7780481" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32961681">The Influence of Hippotherapy on the Body Posture in a Sitting Position among Children with Cerebral Palsy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Matusiak-Wieczorek E,
|
||
Dziankowska-Zaborszczyk E,
|
||
Synder M,
|
||
Borowski A</span><br />
|
||
<span class="medgenPMjournal">Int J Environ Res Public Health</span>
|
||
2020 Sep 19;17(18)
|
||
doi: 10.3390/ijerph17186846.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32961681" target="_blank">32961681</a><a href="/pmc/articles/PMC7558765" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20668945">Cerebral folate deficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hyland K,
|
||
Shoffner J,
|
||
Heales SJ</span><br />
|
||
<span class="medgenPMjournal">J Inherit Metab Dis</span>
|
||
2010 Oct;33(5):563-70.
|
||
Epub 2010 Jul 29
|
||
doi: 10.1007/s10545-010-9159-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20668945" target="_blank">20668945</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17624501">Orthopedic management of spasticity in cerebral palsy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Novacheck TF,
|
||
Gage JR</span><br />
|
||
<span class="medgenPMjournal">Childs Nerv Syst</span>
|
||
2007 Sep;23(9):1015-31.
|
||
Epub 2007 Jul 12
|
||
doi: 10.1007/s00381-007-0378-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17624501" target="_blank">17624501</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17028368">Cerebral palsy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Johnston MV,
|
||
Hoon AH Jr</span><br />
|
||
<span class="medgenPMjournal">Neuromolecular Med</span>
|
||
2006;8(4):435-50.
|
||
doi: 10.1385/NMM:8:4:435.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17028368" target="_blank">17028368</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Spastic%20diplegia%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 (440)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39718493">Case 336.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Boitsios G,
|
||
Aeby A,
|
||
Andrei AM</span><br />
|
||
<span class="medgenPMjournal">Radiology</span>
|
||
2024 Dec;313(3):e240185.
|
||
doi: 10.1148/radiol.240185.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39718493" target="_blank">39718493</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32979048">Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ebrahimi-Fakhari D,
|
||
Teinert J,
|
||
Behne R,
|
||
Wimmer M,
|
||
D'Amore A,
|
||
Eberhardt K,
|
||
Brechmann B,
|
||
Ziegler M,
|
||
Jensen DM,
|
||
Nagabhyrava P,
|
||
Geisel G,
|
||
Carmody E,
|
||
Shamshad U,
|
||
Dies KA,
|
||
Yuskaitis CJ,
|
||
Salussolia CL,
|
||
Ebrahimi-Fakhari D,
|
||
Pearson TS,
|
||
Saffari A,
|
||
Ziegler A,
|
||
Kölker S,
|
||
Volkmann J,
|
||
Wiesener A,
|
||
Bearden DR,
|
||
Lakhani S,
|
||
Segal D,
|
||
Udwadia-Hegde A,
|
||
Martinuzzi A,
|
||
Hirst J,
|
||
Perlman S,
|
||
Takiyama Y,
|
||
Xiromerisiou G,
|
||
Vill K,
|
||
Walker WO,
|
||
Shukla A,
|
||
Dubey Gupta R,
|
||
Dahl N,
|
||
Aksoy A,
|
||
Verhelst H,
|
||
Delgado MR,
|
||
Kremlikova Pourova R,
|
||
Sadek AA,
|
||
Elkhateeb NM,
|
||
Blumkin L,
|
||
Brea-Fernández AJ,
|
||
Dacruz-Álvarez D,
|
||
Smol T,
|
||
Ghoumid J,
|
||
Miguel D,
|
||
Heine C,
|
||
Schlump JU,
|
||
Langen H,
|
||
Baets J,
|
||
Bulk S,
|
||
Darvish H,
|
||
Bakhtiari S,
|
||
Kruer MC,
|
||
Lim-Melia E,
|
||
Aydinli N,
|
||
Alanay Y,
|
||
El-Rashidy O,
|
||
Nampoothiri S,
|
||
Patel C,
|
||
Beetz C,
|
||
Bauer P,
|
||
Yoon G,
|
||
Guillot M,
|
||
Miller SP,
|
||
Bourinaris T,
|
||
Houlden H,
|
||
Robelin L,
|
||
Anheim M,
|
||
Alamri AS,
|
||
Mahmoud AAH,
|
||
Inaloo S,
|
||
Habibzadeh P,
|
||
Faghihi MA,
|
||
Jansen AC,
|
||
Brock S,
|
||
Roubertie A,
|
||
Darras BT,
|
||
Agrawal PB,
|
||
Santorelli FM,
|
||
Gleeson J,
|
||
Zaki MS,
|
||
Sheikh SI,
|
||
Bennett JT,
|
||
Sahin M</span><br />
|
||
<span class="medgenPMjournal">Brain</span>
|
||
2020 Oct 1;143(10):2929-2944.
|
||
doi: 10.1093/brain/awz307.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32979048" target="_blank">32979048</a><a href="/pmc/articles/PMC7780481" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22411255">Sjogren-Larsson syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dutra LA,
|
||
Braga-Neto P,
|
||
Pedroso JL,
|
||
Povoas Barsottini OG</span><br />
|
||
<span class="medgenPMjournal">Adv Exp Med Biol</span>
|
||
2012;724:344-50.
|
||
doi: 10.1007/978-1-4614-0653-2_26.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22411255" target="_blank">22411255</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17254005">Sjögren-Larsson syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gordon N</span><br />
|
||
<span class="medgenPMjournal">Dev Med Child Neurol</span>
|
||
2007 Feb;49(2):152-4.
|
||
doi: 10.1111/j.1469-8749.2007.00152.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17254005" target="_blank">17254005</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/1738380">Surgical management of spastic diplegia in cerebral palsy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Park TS,
|
||
Owen JH</span><br />
|
||
<span class="medgenPMjournal">N Engl J Med</span>
|
||
1992 Mar 12;326(11):745-9.
|
||
doi: 10.1056/NEJM199203123261106.
|
||
<span class="bold">PMID: </span><a href="/pubmed/1738380" target="_blank">1738380</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Spastic%20diplegia%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 (270)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/32961681">The Influence of Hippotherapy on the Body Posture in a Sitting Position among Children with Cerebral Palsy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Matusiak-Wieczorek E,
|
||
Dziankowska-Zaborszczyk E,
|
||
Synder M,
|
||
Borowski A</span><br />
|
||
<span class="medgenPMjournal">Int J Environ Res Public Health</span>
|
||
2020 Sep 19;17(18)
|
||
doi: 10.3390/ijerph17186846.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32961681" target="_blank">32961681</a><a href="/pmc/articles/PMC7558765" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31789301">Effect of simultaneous proprioceptive-visual feedback on gait of children with spastic diplegic cerebral palsy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hussein ZA,
|
||
Salem IA,
|
||
Ali MS</span><br />
|
||
<span class="medgenPMjournal">J Musculoskelet Neuronal Interact</span>
|
||
2019 Dec 1;19(4):500-506.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31789301" target="_blank">31789301</a><a href="/pmc/articles/PMC6944808" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28937080">Branchio-oto-renal syndrome presenting with syndrome of hyporeninemic hypoaldosteronism.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">David JJ,
|
||
Shanbag P</span><br />
|
||
<span class="medgenPMjournal">Saudi J Kidney Dis Transpl</span>
|
||
2017 Sep-Oct;28(5):1165-1168.
|
||
doi: 10.4103/1319-2442.215129.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28937080" target="_blank">28937080</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20668945">Cerebral folate deficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hyland K,
|
||
Shoffner J,
|
||
Heales SJ</span><br />
|
||
<span class="medgenPMjournal">J Inherit Metab Dis</span>
|
||
2010 Oct;33(5):563-70.
|
||
Epub 2010 Jul 29
|
||
doi: 10.1007/s10545-010-9159-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20668945" target="_blank">20668945</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8774515">Prenatal and perinatal factors and cerebral palsy in very low birth weight infants.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Grether JK,
|
||
Nelson KB,
|
||
Emery ES 3rd,
|
||
Cummins SK</span><br />
|
||
<span class="medgenPMjournal">J Pediatr</span>
|
||
1996 Mar;128(3):407-14.
|
||
doi: 10.1016/s0022-3476(96)70292-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8774515" target="_blank">8774515</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Spastic%20diplegia%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 (182)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/27770045">De Novo TUBB2A Variant Presenting With Anterior Temporal Pachygyria.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rodan LH,
|
||
El Achkar CM,
|
||
Berry GT,
|
||
Poduri A,
|
||
Prabhu SP,
|
||
Yang E,
|
||
Anselm I</span><br />
|
||
<span class="medgenPMjournal">J Child Neurol</span>
|
||
2017 Jan;32(1):127-131.
|
||
Epub 2016 Oct 23
|
||
doi: 10.1177/0883073816672998.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27770045" target="_blank">27770045</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/18432151">Idiopathic toe-walking.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Babb A,
|
||
Carlson WO</span><br />
|
||
<span class="medgenPMjournal">S D Med</span>
|
||
2008 Feb;61(2):53, 55-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18432151" target="_blank">18432151</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15703968">Selective dorsal rhizotomy in cerebral palsy to improve functional abilities: evaluation of criteria for selection.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">van Schie PE,
|
||
Vermeulen RJ,
|
||
van Ouwerkerk WJ,
|
||
Kwakkel G,
|
||
Becher JG</span><br />
|
||
<span class="medgenPMjournal">Childs Nerv Syst</span>
|
||
2005 Jun;21(6):451-7.
|
||
Epub 2005 Feb 10
|
||
doi: 10.1007/s00381-004-1105-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15703968" target="_blank">15703968</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/3539029">Sonographic finding of the bright thalamus.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Shen EY,
|
||
Huang CC,
|
||
Chyou SC,
|
||
Hung HY,
|
||
Hsu CH,
|
||
Huang FY</span><br />
|
||
<span class="medgenPMjournal">Arch Dis Child</span>
|
||
1986 Nov;61(11):1096-9.
|
||
doi: 10.1136/adc.61.11.1096.
|
||
<span class="bold">PMID: </span><a href="/pubmed/3539029" target="_blank">3539029</a><a href="/pmc/articles/PMC1778108" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/14155187">THE AETIOLOGY OF SPASTIC DIPLEGIA. A SYNTHESIS OF EPIDEMIOLOGICAL AND PATHOLOGICAL EVIDENCE.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">MCDONALD AD</span><br />
|
||
<span class="medgenPMjournal">Dev Med Child Neurol</span>
|
||
1964 Jun;6:277-85.
|
||
doi: 10.1111/j.1469-8749.1964.tb10788.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/14155187" target="_blank">14155187</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Spastic%20diplegia%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 (206)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/32700967">Quantification of upper body strategy during gait in children with spastic diplegia using a summary parameter.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cimolin V,
|
||
Condoluci C,
|
||
Manzia CM,
|
||
Girolamo GD,
|
||
Galli M</span><br />
|
||
<span class="medgenPMjournal">Comput Methods Biomech Biomed Engin</span>
|
||
2020 Nov;23(15):1260-1266.
|
||
Epub 2020 Jul 23
|
||
doi: 10.1080/10255842.2020.1795144.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32700967" target="_blank">32700967</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27770045">De Novo TUBB2A Variant Presenting With Anterior Temporal Pachygyria.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rodan LH,
|
||
El Achkar CM,
|
||
Berry GT,
|
||
Poduri A,
|
||
Prabhu SP,
|
||
Yang E,
|
||
Anselm I</span><br />
|
||
<span class="medgenPMjournal">J Child Neurol</span>
|
||
2017 Jan;32(1):127-131.
|
||
Epub 2016 Oct 23
|
||
doi: 10.1177/0883073816672998.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27770045" target="_blank">27770045</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/18432151">Idiopathic toe-walking.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Babb A,
|
||
Carlson WO</span><br />
|
||
<span class="medgenPMjournal">S D Med</span>
|
||
2008 Feb;61(2):53, 55-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18432151" target="_blank">18432151</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15703968">Selective dorsal rhizotomy in cerebral palsy to improve functional abilities: evaluation of criteria for selection.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">van Schie PE,
|
||
Vermeulen RJ,
|
||
van Ouwerkerk WJ,
|
||
Kwakkel G,
|
||
Becher JG</span><br />
|
||
<span class="medgenPMjournal">Childs Nerv Syst</span>
|
||
2005 Jun;21(6):451-7.
|
||
Epub 2005 Feb 10
|
||
doi: 10.1007/s00381-004-1105-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15703968" target="_blank">15703968</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8496229">Simultaneous multiple operations for spastic diplegia. Outcome and functional assessment of walking in 18 patients.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nene AV,
|
||
Evans GA,
|
||
Patrick JH</span><br />
|
||
<span class="medgenPMjournal">J Bone Joint Surg Br</span>
|
||
1993 May;75(3):488-94.
|
||
doi: 10.1302/0301-620X.75B3.8496229.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8496229" target="_blank">8496229</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Spastic%20diplegia%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 (251)</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/34107470">A Case of Dentatotomy for Pain and Spasticity and Systematic Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Villegas-López FA,
|
||
Armas-Salazar A,
|
||
Beltrán JQ,
|
||
Téllez-León N,
|
||
Arellano-Alcántara A,
|
||
Navarro-Olvera JL,
|
||
Carrillo-Ruiz JD</span><br />
|
||
<span class="medgenPMjournal">Stereotact Funct Neurosurg</span>
|
||
2021;99(6):521-525.
|
||
Epub 2021 Jun 9
|
||
doi: 10.1159/000516423.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34107470" target="_blank">34107470</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30179955">Socioeconomic Status Influences Functional Severity of Untreated Cerebral Palsy in Nepal: A Prospective Analysis and Systematic Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">LeBrun DG,
|
||
Banskota B,
|
||
Banskota AK,
|
||
Rajbhandari T,
|
||
Baldwin KD,
|
||
Spiegel DA</span><br />
|
||
<span class="medgenPMjournal">Clin Orthop Relat Res</span>
|
||
2019 Jan;477(1):10-21.
|
||
doi: 10.1097/CORR.0000000000000476.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30179955" target="_blank">30179955</a><a href="/pmc/articles/PMC6345316" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24990007">Heart rate variability in children with cerebral palsy: review of the literature and meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Amichai T,
|
||
Katz-Leurer M</span><br />
|
||
<span class="medgenPMjournal">NeuroRehabilitation</span>
|
||
2014;35(1):113-22.
|
||
doi: 10.3233/NRE-141097.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24990007" target="_blank">24990007</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21624819">Classification of topographical pattern of spasticity in cerebral palsy: a registry perspective.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Reid SM,
|
||
Carlin JB,
|
||
Reddihough DS</span><br />
|
||
<span class="medgenPMjournal">Res Dev Disabil</span>
|
||
2011 Nov-Dec;32(6):2909-15.
|
||
Epub 2011 May 31
|
||
doi: 10.1016/j.ridd.2011.05.012.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21624819" target="_blank">21624819</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/18811714">A systematic review of the effectiveness of aerobic exercise interventions for children with cerebral palsy: an AACPDM evidence report.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rogers A,
|
||
Furler BL,
|
||
Brinks S,
|
||
Darrah J</span><br />
|
||
<span class="medgenPMjournal">Dev Med Child Neurol</span>
|
||
2008 Nov;50(11):808-14.
|
||
Epub 2008 Sep 22
|
||
doi: 10.1111/j.1469-8749.2008.03134.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18811714" target="_blank">18811714</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Spastic%20diplegia%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 (6)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
<div id="messagearea_bottom">
|
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|
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|
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|
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|
||
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|
||
|
||
</div>
|
||
</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_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="Clinical_resources">Clinical resources</h1><a sid="119" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul><li><a href="https://clinicaltrials.gov/search?cond=Spastic%20diplegia" target="_blank">ClinicalTrials.gov</a></li></ul></div>
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<div class="portlet mgSection" id="ID_121">
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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=(%22spastic%20diplegia%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(%22Spastic%20diplegia%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=Spastic%20diplegia" target="_blank">MedlinePlus</a></li></ul></div>
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<a href="/pubmed?term=Spastic%20diplegia%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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<a class="brieflinkpopperctrl" href="/pmc?LinkName=medgen_pmc&from_uid=44181" ref="log$=recordlinks">PMC Articles</a>
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<p><a href="https://www.nlm.nih.gov/web_policies.html" class="text-white">Web Policies</a><br />
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<a href="https://www.nih.gov/institutes-nih/nih-office-director/office-communications-public-liaison/freedom-information-act-office" class="text-white">FOIA</a><br />
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