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<!--
UID=676
ConceptID=C0006325
-->
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Bruxism</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>676</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0006325</a></dd><dt><span class="dotprefix"></span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
<td>Bruxism (disease)</td></tr>
<tr><td><span class="bold">SNOMED CT: </span></td>
<td>Teeth gnashing (90207007); Grinding of teeth (90207007); Bruxism (191983006); Grinding teeth (90207007)</td></tr>
<tr><td colspan="2" class="small"> </td></tr><tr><td>HPO:</td>
<td><a target="_blank" title="Human Phenotype Ontology" href="https://hpo.jax.org/app/browse/term/HP:0003763">HP:0003763</a></td></tr>
<tr><td>Monarch Initiative:</td>
<td><a href="https://monarchinitiative.org/disease/MONDO:0002443" target="_blank">MONDO:0002443</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">Bruxism is characterized by the grinding of the teeth including the clenching of the jaw and typically occur during sleep, but also can occur while the affected individual is awake. [from <a title="Human Phenotype Ontology" href="http://www.human-phenotype-ontology.org" class="defSource" target="_blank">HPO</a>]</div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<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">Bruxism</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/1680568" ref="tree=MeSH" title="MedGen record for Distress, Psychological">Distress, Psychological</a></span><ul><li><span class="matched_ds">Bruxism</span><ul><li><span class="TLline"><a href="/medgen/155628" ref="tree=MeSH" title="MedGen record for Sleep Bruxism">Sleep Bruxism</a></span></li></ul></li></ul></li></ul></div></div></div></div>
</div>
<div class="portlet mgSection" id="ID_112">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Conditions_with_this_feature">Conditions with this feature</h1><a sid="112" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln clinfeat">
<div class="divPopper rprt" id="rdis_48441"><div><strong>Rett syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>48441</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0035372</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">The spectrum of MECP2-related phenotypes in females ranges from classic Rett syndrome to variant Rett syndrome with a broader clinical phenotype (either milder or more severe than classic Rett syndrome) to mild learning disabilities; the spectrum in males ranges from severe neonatal encephalopathy to pyramidal signs, parkinsonism, and macroorchidism (PPM-X) syndrome to severe syndromic/nonsyndromic intellectual disability. Females: Classic Rett syndrome, a progressive neurodevelopmental disorder primarily affecting girls, is characterized by apparently normal psychomotor development during the first six to 18 months of life, followed by a short period of developmental stagnation, then rapid regression in language and motor skills, followed by long-term stability. During the phase of rapid regression, repetitive, stereotypic hand movements replace purposeful hand use. Additional findings include fits of screaming and inconsolable crying, autistic features, panic-like attacks, bruxism, episodic apnea and/or hyperpnea, gait ataxia and apraxia, tremors, seizures, and acquired microcephaly. Males: Severe neonatal-onset encephalopathy, the most common phenotype in affected males, is characterized by a relentless clinical course that follows a metabolic-degenerative type of pattern, abnormal tone, involuntary movements, severe seizures, and breathing abnormalities. Death often occurs before age two years.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/48441">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_98277"><div><strong>Chorea-acanthocytosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>98277</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0393576</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">VPS13A disease, caused by VPS13A loss-of-function pathogenic variants, is characterized by a spectrum of movement disorders (chorea, dystonia, tics, sometimes parkinsonism); predominant orofacial choreic and dystonic movements and tics (with involuntary tongue protrusion on attempted swallowing, habitual tongue and lip biting resulting in self-mutilation, involuntary vocalizations); dysarthria and dysphagia; psychiatric, cognitive, and behavioral changes ("frontal lobe type"); seizures; and progressive neuromuscular involvement. Huntingtonism (triad of progressive movement disorder and cognitive and behavioral alterations) is a typical presentation. Phenotypic variability is considerable even within the same family, including for monozygotic twins. Mean age of onset is about 30 years. VPS13A disease runs a chronic progressive course and may lead to major disability within a few years. Some affected individuals are bedridden or wheelchair dependent by the third decade. Age at death ranges from 28 to 61 years; several instances of sudden unexplained death or death during epileptic seizures have been reported.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/98277">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_163232"><div><strong>X-linked intellectual disability-psychosis-macroorchidism syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>163232</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information."><span class="highlight" style="background-color:">C0796222</span></a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">The spectrum of MECP2-related phenotypes in females ranges from classic Rett syndrome to variant Rett syndrome with a broader clinical phenotype (either milder or more severe than classic Rett syndrome) to mild learning disabilities; the spectrum in males ranges from severe neonatal encephalopathy to pyramidal signs, parkinsonism, and macroorchidism (PPM-X) syndrome to severe syndromic/nonsyndromic intellectual disability. Females: Classic Rett syndrome, a progressive neurodevelopmental disorder primarily affecting girls, is characterized by apparently normal psychomotor development during the first six to 18 months of life, followed by a short period of developmental stagnation, then rapid regression in language and motor skills, followed by long-term stability. During the phase of rapid regression, repetitive, stereotypic hand movements replace purposeful hand use. Additional findings include fits of screaming and inconsolable crying, autistic features, panic-like attacks, bruxism, episodic apnea and/or hyperpnea, gait ataxia and apraxia, tremors, seizures, and acquired microcephaly. Males: Severe neonatal-onset encephalopathy, the most common phenotype in affected males, is characterized by a relentless clinical course that follows a metabolic-degenerative type of pattern, abnormal tone, involuntary movements, severe seizures, and breathing abnormalities. Death often occurs before age two years.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/163232">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_335202"><div><strong>X-linked intellectual disability, Stocco dos Santos type</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>335202</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C1845530</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">X-linked intellectual disability, Stocco Dos Santos type is characterised by severe intellectual deficit with hyperactivity, language delay, congenital hip luxation, short stature, kyphosis and recurrent respiratory infections. Aggressive behaviour and frequent epileptic seizures may also be present. The syndrome has been described in four boys from the same family. Transmission is X-linked and is caused by mutations in the &lt;i&gt;KIAA1202&lt;/i&gt; gene, localised to the Xp11.2 region.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/335202">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_337496"><div><strong>Syndromic X-linked intellectual disability Lubs type</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>337496</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C1846058</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">MECP2 duplication syndrome is a severe neurodevelopmental disorder characterized by early-onset hypotonia, feeding difficulty, gastrointestinal manifestations including gastroesophageal reflux and constipation, delayed psychomotor development leading to severe intellectual disability, poor speech development, progressive spasticity, recurrent respiratory infections (in ~75% of affected individuals), and seizures (in ~50%). MECP2 duplication syndrome is 100% penetrant in males. Occasionally females have been described with a MECP2 duplication and a range of findings from mild intellectual disability to a phenotype similar to that seen in males. In addition to the core features, autistic behaviors, nonspecific neuroradiologic findings on brain MRI, mottled skin, and urogenital anomalies have been observed in several affected boys.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/337496">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_339751"><div><strong>Parasomnia, sleep bruxism type</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>339751</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C1847399</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Sleep bruxism is a stereotyped movement disorder characterized by grinding or clenching of the teeth during sleep (American Academy of Sleep Medicine, 2005). It is a parasomnia, defined as a clinical disorder resulting in undesirable physical phenomena that occur predominantly during sleep. Parasomnias are not abnormalities of the processes responsible for sleep and wake states (summary by Hublin and Kaprio, 2003).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/339751">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_339994"><div><strong>Phelan-McDermid syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>339994</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C1853490</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Phelan-McDermid syndrome-SHANK3 related (PMS-SHANK3 related) is characterized by neonatal hypotonia, absent to severely delayed speech, developmental delay, and minor dysmorphic facial features. Most affected individuals have moderate-to-profound intellectual disability. Other features include relatively large fleshy hands, dysplastic toenails, and decreased perspiration that results in a tendency to overheat. Normal stature and normal head size distinguish PMS-SHANK3 related from other autosomal chromosome disorders. Neurobehavioral characteristics include mouthing or chewing non-food items, decreased perception of pain, and autism spectrum disorder or autistic-like affect and behavior. Some individuals experience regression / loss of skills, epilepsy, ataxic/abnormal gait, and sleep disturbance (difficulty falling asleep and staying asleep, hypersomnia, and parasomnias). Less commonly, affected individuals may have strabismus, vision problems (hyperopia or myopia), cardiac anomalies, renal anomalies, and lymphedema. Those who have PMS-SHANK3 related due to a ring chromosome 22 also have a high risk of developing features of NF2-related schwannomatosis (NF2).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/339994">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_350085"><div><strong>Spinocerebellar ataxia type 29</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>350085</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C1861732</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Spinocerebellar ataxia-29 (SCA29) is an autosomal dominant neurologic disorder characterized by onset in infancy of delayed motor development and mild cognitive delay. Affected individuals develop a very slowly progressive or nonprogressive gait and limb ataxia associated with cerebellar atrophy on brain imaging. Additional variable features include nystagmus, dysarthria, and tremor (summary by Huang et al., 2012).&#13; For a general discussion of autosomal dominant spinocerebellar ataxia, see SCA1 (164400).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/350085">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_409857"><div><strong>Intellectual disability, autosomal dominant 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>409857</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C1969562</a></dd><dt><span class="dotprefix"></span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
<div class="spaceAbove">MBD5 haploinsufficiency is a neurodevelopmental disorder characterized by developmental delay, intellectual disability, severe speech impairment, seizures, sleep disturbances, and abnormal behaviors. Most children lack speech entirely or have single words, short phrases, or short sentences. Seizures are present in more than 80% of children; onset is usually around age two years. Sleep disturbances, present in about 90%, can result in excessive daytime drowsiness. Abnormal behaviors can include autistic-like behaviors (80%) and self-injury and aggression (&gt;60%).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/409857">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_382926"><div><strong>CHROMOSOME 1qter DELETION SYNDROME</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>382926</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C2676727</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/382926">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_442564"><div><strong>Intellectual disability, autosomal recessive 13</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>442564</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C2750791</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 TRAPPC9 gene.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/442564">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_462055"><div><strong>Rett syndrome, congenital variant</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>462055</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C3150705</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">FOXG1 syndrome is characterized by moderate-to-profound developmental delay and intellectual disability, postnatal growth deficiency, congenital or postnatal microcephaly, hyperkinetic/dyskinetic movement disorder, hypotonia, neurobehavioral/psychiatric manifestations (motor stereotypies, impairment of social interaction, abnormal sleep patterns, unexplained episodes of crying, restlessness, and bruxism), feeding difficulties with poor weight gain, strabismus, seizures, spasticity, gastroesophageal reflux, and aspiration. Some individuals have cortical visual impairment, kyphosis, scoliosis, and/or abnormal breathing. Characteristic neuroimaging findings include corpus callosum anomalies (especially a marked, filiform thinning of the rostrum of the corpus callosum), a simplified gyral pattern, and hyperplasia of the fornices.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/462055">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_481912"><div><strong>Intellectual disability, autosomal dominant 8</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>481912</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C3280282</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">GRIN1-related neurodevelopmental disorder (GRIN1-NDD) is characterized by mild-to-profound developmental delay / intellectual disability (DD/ID) in all affected individuals. Other common manifestations are epilepsy, muscular hypotonia, movement disorders, spasticity, feeding difficulties, and behavior issues. A subset of individuals show a malformation of cortical development consisting of extensive and diffuse bilateral polymicrogyria. To date, 72 individuals with GRIN1-NDD have been reported.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/481912">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_813060"><div><strong>X-linked intellectual disability, Cantagrel type</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>813060</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C3806730</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">X-linked intellectual developmental disorder-98 (XLID98) is a neurodevelopmental disorder characterized by delayed psychomotor development, poor speech, behavioral abnormalities, poor overall growth, dysmorphic facial features, and often early-onset seizures. Some carrier females are unaffected, whereas other females with mutations are affected; males tend to be more severely affected than females. It is believed that the phenotypic variability and disease manifestations in female carriers results from skewed X-inactivation or cellular mosaicism (summary by de Lange et al., 2016).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/813060">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_816002"><div><strong>Intellectual disability-hypotonia-spasticity-sleep disorder syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>816002</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C3809672</a></dd><dt><span class="dotprefix"></span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
<div class="spaceAbove">A rare, genetic, syndromic intellectual disability disorder characterized by variable degrees of intellectual disability, behavioral problems (including attention deficit and hyperactivity disorder, autism spectrum disorder, and aggressiveness), an altered sleeping pattern, and delayed speech and language development associated with disruption of ankyrin-3 (&lt;i&gt;ANK3&lt;/i&gt; gene). Additional features observed may include muscular hypotonia and spasticity. Epilepsy, chronic hunger, and dysmorphic facial features have been reported.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/816002">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_816684"><div><strong>Hyperphosphatasia with intellectual disability syndrome 4</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>816684</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C3810354</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Hyperphosphatasia with impaired intellectual development syndrome-4 (HPMRS4) is an autosomal recessive neurologic disorder characterized by severely delayed psychomotor development, impaired intellectual development, lack of speech acquisition, seizures, and dysmorphic facial features. Laboratory studies show increased serum alkaline phosphatase (summary by Howard et al., 2014). The disorder is caused by a defect in glycosylphosphatidylinositol (GPI) biosynthesis.&#13; For a discussion of genetic heterogeneity of HPMRS, see HPMRS1 (239300).&#13; For a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 (610293).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/816684">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_862975"><div><strong>ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>862975</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C4014538</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">ADNP-related disorder is characterized by hypotonia, severe speech and motor delay, mild-to-severe intellectual disability, and characteristic facial features (prominent forehead, high anterior hairline, wide and depressed nasal bridge, and short nose with full, upturned nasal tip) based on a cohort of 78 individuals. Features of autism spectrum disorder are common (stereotypic behavior, impaired social interaction). Other common findings include additional behavioral problems, sleep disturbance, brain abnormalities, seizures, feeding issues, gastrointestinal problems, visual dysfunction (hypermetropia, strabismus, cortical visual impairment), musculoskeletal anomalies, endocrine issues including short stature and hormonal deficiencies, cardiac and urinary tract anomalies, and hearing loss.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/862975">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_907277"><div><strong>Intellectual disability, autosomal dominant 34</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>907277</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C4225156</a></dd><dt><span class="dotprefix"></span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
<div class="spaceAbove">Neurodevelopmental disorder with hypotonia, speech delay, and dysmorphic facies (NEDHSF) is characterized by global developmental delay with hypotonia, delayed motor skills, impaired intellectual development, poor or absent speech, and behavioral abnormalities. The severity of developmental delay is highly variable, ranging from mild to profound. Some patients are nonverbal and nonambulatory. Additional features may include early feeding difficulties with poor overall growth, various types of seizures (in about half of patients), brain imaging abnormalities, and dysmorphic facial features (Gehin et al., 2023).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/907277">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_895359"><div><strong>Intellectual disability, autosomal dominant 38</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>895359</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C4225343</a></dd><dt><span class="dotprefix"></span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
<div class="spaceAbove">Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the EEF1A2 gene.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/895359">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1379711"><div><strong>Lopes-Maciel-Rodan syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1379711</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C4479491</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/1379711">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1614787"><div><strong>Intellectual disability, autosomal dominant 54</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1614787</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C4540484</a></dd><dt><span class="dotprefix"></span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1614787">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1622162"><div><strong>Neurodevelopmental disorder with severe motor impairment and absent language</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1622162</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C4540496</a></dd><dt><span class="dotprefix"></span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
<div class="spaceAbove">NEDMIAL is a neurodevelopmental disorder characterized by delayed psychomotor development and hypotonia apparent from early infancy, resulting in feeding difficulties, ataxic gait or inability to walk, delayed or absent speech development, and impaired intellectual development, sometimes with behavioral abnormalities, such as hand-flapping. Additional common features may include sleep disorder, nonspecific dysmorphic facial features, and joint hyperlaxity (summary by Lessel et al., 2017 and Mannucci et al., 2021).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1622162">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1637031"><div><strong>Neurodevelopmental disorder with poor language and loss of hand skills</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1637031</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C4693546</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">NDPLHS is an autosomal dominant disorder characterized by developmental stagnation or regression apparent in the first years of life and manifest as loss of purposeful hand movements, loss of language, and intellectual disability. Additional features may include stereotypic movements, dystonia, gait abnormalities, sleep disturbances, and small hands and feet. The phenotype is reminiscent of Rett syndrome (RTT; 312750) (summary by Yoo et al., 2017).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1637031">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1633501"><div><strong>Developmental and epileptic encephalopathy, 64</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1633501</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C4693899</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Developmental and epileptic encephalopathy-64 (DEE64) is a neurodevelopmental disorder characterized by onset of seizures usually in the first year of life and associated with intellectual disability, poor motor development, and poor or absent speech. Additional features include hypotonia, abnormal movements, and nonspecific dysmorphic features. The severity is variable: some patients are unable to speak, walk, or interact with others as late as the teenage years, whereas others may have some comprehension (summary by Straub et al., 2018).&#13; For a general phenotypic description and a discussion of genetic heterogeneity of DEE, see 308350.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1633501">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1675423"><div><strong>Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1675423</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C5193039</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/1675423">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1678038"><div><strong>Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1678038</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C5193128</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements (NEDNEH) is an autosomal recessive severe neurologic disorder characterized by delayed psychomotor development with inability to walk or speak, early-onset refractory seizures, and nonepileptic hyperkinetic movement disorders, including myoclonus dystonia and dyskinesias. Patients require tube feeding and may die of respiratory failure in childhood or in the second decade (summary by Gorman et al., 2019).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1678038">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1684663"><div><strong>Neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1684663</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C5231471</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia (NEDBASH) is an autosomal recessive disorder characterized by severely impaired intellectual and motor development, axial and peripheral hypotonia usually with inability to walk, and significant behavioral abnormalities consistent with autism spectrum disorder and reminiscent of Rett syndrome (RTT; 312750), such as poor communication, stereotypic or repetitive behaviors, hand-wringing, bruxism, and sleep disturbances. Other features include poor overall growth, and joint hypermobility. Rare features include seizures, dystonia, spasticity, and nonspecific brain abnormalities (summary by Abu-Libdeh et al., 2019 and Dias et al., 2019).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1684663">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1727046"><div><strong>Intellectual developmental disorder with paroxysmal dyskinesia or seizures</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1727046</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C5436894</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Intellectual developmental disorder with paroxysmal dyskinesia or seizures (IDDPADS) is an autosomal recessive complex neurologic disorder characterized by global developmental delay with impaired intellectual development and language delay. In addition, most patients develop a paroxysmal hyperkinetic movement disorder in the first months or years of life manifest as sudden falls or backward propulsion, eye or head deviation, and dystonic limb posturing followed by chorea and dyskinetic movements. The episodes are pharmacoresistant to anticonvulsant medication. EEG may show interictal abnormalities, but are usually not consistent with epilepsy. However, some patients may also develop epileptic seizures or only have seizures without a movement disorder (summary by Doummar et al., 2020).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1727046">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1779339"><div><strong>KINSSHIP syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1779339</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C5543317</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">KINSSHIP syndrome (KINS) is an autosomal dominant disorder characterized by a recognizable pattern of anomalies including developmental delay, impaired intellectual development, seizures, mesomelic dysplasia, dysmorphic facial features, horseshoe or hypoplastic kidney, and failure to thrive (summary by Voisin et al., 2021).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1779339">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1786855"><div><strong>Spinocerebellar ataxia, autosomal recessive 31</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1786855</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C5543627</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Autosomal recessive spinocerebellar ataxia-31 (SCAR31) is a complex neurodevelopmental disorder characterized by global developmental delay with hypotonia and variably impaired intellectual and language development. Affected individuals have an ataxic gait, tremor, and dysarthria; more severely affected patients also have spasticity with inability to walk. Most have optic atrophy. Brain imaging shows cerebellar hypoplasia, enlarged ventricles, and atrophy of the posterior corpus callosum. Additional features may include retinitis pigmentosa, sensorineural deafness, dysmorphic facial features, and possibly endocrine dysfunction (summary by Collier et al., 2021).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1786855">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)&#10;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_1794184"><div><strong>Neurodevelopmental disorder with hypotonia and dysmorphic facies</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1794184</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C5561974</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Neurodevelopmental disorder with hypotonia and dysmorphic facies (NEDHYDF) is characterized by global developmental delay and hypotonia apparent from birth. Affected individuals have variably impaired intellectual development, often with speech delay and delayed walking. Seizures are generally not observed, although some patients may have single seizures or late-onset epilepsy. Most patients have prominent dysmorphic facial features. Additional features may include congenital cardiac defects (without arrhythmia), nonspecific renal anomalies, joint contractures or joint hyperextensibility, dry skin, and cryptorchidism. There is significant phenotypic variability in both the neurologic and extraneurologic manifestations (summary by Tan et al., 2022).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1794184">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1824038"><div><strong>Developmental and epileptic encephalopathy 110</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1824038</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C5774265</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Developmental and epileptic encephalopathy-110 (DEE110) is an autosomal recessive disorder characterized by profound global developmental delay and hypotonia apparent in infancy followed by onset of seizures in the first months or years of life. Affected individuals achieve almost no developmental milestones and show impaired intellectual development, poor or absent speech, inability to walk or grasp objects, peripheral spasticity, and poor eye contact. Brain imaging shows hypoplastic corpus callosum and cortical atrophy (Dahimene et al., 2022).&#13; For a discussion of genetic heterogeneity of DEE, see 308350.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1824038">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)&#10;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).&#13; 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_1854940"><div><strong>Intellectual developmental disorder, x-linked, syndromic 37</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1854940</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C5935567</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-37 (MRXS37) is a developmental disorder showing phenotypic variability and variable severity. Male mutation carriers tend to be more severely affected than female mutation carriers, some of whom may even be asymptomatic. In general, the disorder is characterized by global developmental delay with delayed walking, speech delay, impaired intellectual development that ranges from borderline low to moderate, and behavioral abnormalities, such as autism and sleeping difficulties. Many patients are able to attend mainstream schools with assistance and work under supervision. Additional more variable features include sensorineural hearing loss, ocular anomalies, feeding difficulties, dysmorphic facial features, inguinal and umbilical hernia, genitourinary defects, congenital heart defects, musculoskeletal anomalies, and endocrine dysfunction, such as hypogonadism or hyperparathyroidism (Shepherdson et al., 2024).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1854940">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1857802"><div><strong>Neurodevelopmental disorder with early-onset parkinsonism and behavioral abnormalities</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1857802</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C5935590</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Neurodevelopmental disorder with early-onset parkinsonism and behavioral abnormalities (NEDPBA) is an autosomal recessive disorder characterized by delayed developmental milestones apparent in late infancy or early childhood, impaired intellectual development with learning difficulties, and behavioral abnormalities. Motor abnormalities, including parkinsonism and spasticity, usually develop in the third or fourth decades, although earlier onset has been reported. Some patients have seizures. There is inter- and intrafamilial variability (Kuipers et al., 2018; Al-Kasbi et al., 2021).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1857802">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1854360"><div><strong>Jeffries-Lakhani neurodevelopmental syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1854360</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C5935596</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Jeffries-Lakhani neurodevelopmental syndrome (JELANS) is an autosomal recessive disorder characterized by hypotonia, early-onset seizures, and global developmental delay apparent from infancy. Affected individuals have motor delay, speech delay, and impaired intellectual development, and about half of patients are nonambulatory and/or nonverbal. Some patients have cardiac arrhythmia, but congenital cardiac septal defects are only rarely observed. Additional features may include feeding difficulties, recurrent infections, ocular defects, and nonspecific dysmorphic features. Premature death due to cardiac arrhythmia or epilepsy may occur (Jeffries et al., 2024).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1854360">Condition Record</a></div></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_862975" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_98277" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Chorea-acanthocytosis</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_382926" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">CHROMOSOME 1qter DELETION SYNDROME</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1824038" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Developmental and epileptic encephalopathy 110</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1633501" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Developmental and epileptic encephalopathy, 64</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (37)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
<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_816684" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hyperphosphatasia with intellectual disability syndrome 4</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1675423" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1727046" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Intellectual developmental disorder with paroxysmal dyskinesia or seizures</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1854940" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Intellectual developmental disorder, x-linked, syndromic 37</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_409857" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Intellectual disability, autosomal dominant 1</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_907277" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Intellectual disability, autosomal dominant 34</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_895359" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Intellectual disability, autosomal dominant 38</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1614787" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Intellectual disability, autosomal dominant 54</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_481912" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Intellectual disability, autosomal dominant 8</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_442564" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Intellectual disability, autosomal recessive 13</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_816002" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Intellectual disability-hypotonia-spasticity-sleep disorder syndrome</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1854360" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Jeffries-Lakhani neurodevelopmental syndrome</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1779339" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">KINSSHIP syndrome</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1379711" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Lopes-Maciel-Rodan syndrome</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1684663" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1857802" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neurodevelopmental disorder with early-onset parkinsonism and behavioral abnormalities</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1794184" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neurodevelopmental disorder with hypotonia and dysmorphic facies</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1637031" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neurodevelopmental disorder with poor language and loss of hand skills</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1678038" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1622162" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neurodevelopmental disorder with severe motor impairment and absent language</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_339751" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Parasomnia, sleep bruxism type</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_339994" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Phelan-McDermid syndrome</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_48441" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Rett syndrome</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_462055" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Rett syndrome, congenital variant</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_350085" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spinocerebellar ataxia type 29</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1786855" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spinocerebellar ataxia, autosomal recessive 31</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_337496" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Syndromic X-linked intellectual disability Lubs type</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_813060" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">X-linked intellectual disability, Cantagrel type</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_335202" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">X-linked intellectual disability, Stocco dos Santos type</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_163232" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">X-linked intellectual disability-psychosis-macroorchidism syndrome</a></div></span></div></div>
</div>
<div class="portlet mgSection" id="ID_105">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
<div class="nl"><a target="_blank" href="/pubmed/34574467">Sleep Bruxism in Children: Etiology, Diagnosis, and Treatment-A Literature Review.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Bulanda S,
Ilczuk-Rypuła D,
Nitecka-Buchta A,
Nowak Z,
Baron S,
Postek-Stefańska L</span><br />
<span class="medgenPMjournal">Int J Environ Res Public Health</span>
2021 Sep 10;18(18)
doi: 10.3390/ijerph18189544.
<span class="bold">PMID: </span><a href="/pubmed/34574467" target="_blank">34574467</a><a href="/pmc/articles/PMC8471284" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/33783090">Occlusal Vertical Dimension: Best Evidence Consensus Statement.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Goldstein G,
Goodacre C,
MacGregor K</span><br />
<span class="medgenPMjournal">J Prosthodont</span>
2021 Apr;30(S1):12-19.
doi: 10.1111/jopr.13315.
<span class="bold">PMID: </span><a href="/pubmed/33783090" target="_blank">33783090</a></div>
<div class="nl"><a target="_blank" href="/pubmed/31246937">Efficacy of botulinum toxin in the treatment of bruxism: Systematic review.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Fernández-Núñez T,
Amghar-Maach S,
Gay-Escoda C</span><br />
<span class="medgenPMjournal">Med Oral Patol Oral Cir Bucal</span>
2019 Jul 1;24(4):e416-e424.
doi: 10.4317/medoral.22923.
<span class="bold">PMID: </span><a href="/pubmed/31246937" target="_blank">31246937</a><a href="/pmc/articles/PMC6667018" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22bruxism%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 (173)</a></div></div>
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<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
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<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/36597658">Standardised Tool for the Assessment of Bruxism.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Manfredini D,
Ahlberg J,
Aarab G,
Bender S,
Bracci A,
Cistulli PA,
Conti PC,
De Leeuw R,
Durham J,
Emodi-Perlman A,
Ettlin D,
Gallo LM,
Häggman-Henrikson B,
Hublin C,
Kato T,
Klasser G,
Koutris M,
Lavigne GJ,
Paesani D,
Peroz I,
Svensson P,
Wetselaar P,
Lobbezoo F</span><br />
<span class="medgenPMjournal">J Oral Rehabil</span>
2024 Jan;51(1):29-58.
Epub 2023 Feb 10
doi: 10.1111/joor.13411.
<span class="bold">PMID: </span><a href="/pubmed/36597658" target="_blank">36597658</a></div>
<div class="nl"><a target="_blank" href="/pubmed/36444852">Common therapeutic approaches in sleep and awake bruxism - an overview.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Matusz K,
Maciejewska-Szaniec Z,
Gredes T,
Pobudek-Radzikowska M,
Glapiński M,
Górna N,
Przystańska A</span><br />
<span class="medgenPMjournal">Neurol Neurochir Pol</span>
2022;56(6):455-463.
Epub 2022 Nov 29
doi: 10.5603/PJNNS.a2022.0073.
<span class="bold">PMID: </span><a href="/pubmed/36444852" target="_blank">36444852</a></div>
<div class="nl"><a target="_blank" href="/pubmed/34574467">Sleep Bruxism in Children: Etiology, Diagnosis, and Treatment-A Literature Review.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Bulanda S,
Ilczuk-Rypuła D,
Nitecka-Buchta A,
Nowak Z,
Baron S,
Postek-Stefańska L</span><br />
<span class="medgenPMjournal">Int J Environ Res Public Health</span>
2021 Sep 10;18(18)
doi: 10.3390/ijerph18189544.
<span class="bold">PMID: </span><a href="/pubmed/34574467" target="_blank">34574467</a><a href="/pmc/articles/PMC8471284" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/29926505">International consensus on the assessment of bruxism: Report of a work in progress.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Lobbezoo F,
Ahlberg J,
Raphael KG,
Wetselaar P,
Glaros AG,
Kato T,
Santiago V,
Winocur E,
De Laat A,
De Leeuw R,
Koyano K,
Lavigne GJ,
Svensson P,
Manfredini D</span><br />
<span class="medgenPMjournal">J Oral Rehabil</span>
2018 Nov;45(11):837-844.
Epub 2018 Jun 21
doi: 10.1111/joor.12663.
<span class="bold">PMID: </span><a href="/pubmed/29926505" target="_blank">29926505</a><a href="/pmc/articles/PMC6287494" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/29533049">Risk factors for bruxism.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Kuhn M,
Türp JC</span><br />
<span class="medgenPMjournal">Swiss Dent J</span>
2018 Feb 12;128(2):118-124.
doi: 10.61872/sdj-2018-02-369.
<span class="bold">PMID: </span><a href="/pubmed/29533049" target="_blank">29533049</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Bruxism%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 (1597)</a></div><h3 class="subhead">Diagnosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/38575267">Temporomandibular Disorders, Bruxism and Headaches.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Romero-Reyes M,
Bassiur JP</span><br />
<span class="medgenPMjournal">Neurol Clin</span>
2024 May;42(2):573-584.
Epub 2024 Jan 13
doi: 10.1016/j.ncl.2023.12.010.
<span class="bold">PMID: </span><a href="/pubmed/38575267" target="_blank">38575267</a></div>
<div class="nl"><a target="_blank" href="/pubmed/36597658">Standardised Tool for the Assessment of Bruxism.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Manfredini D,
Ahlberg J,
Aarab G,
Bender S,
Bracci A,
Cistulli PA,
Conti PC,
De Leeuw R,
Durham J,
Emodi-Perlman A,
Ettlin D,
Gallo LM,
Häggman-Henrikson B,
Hublin C,
Kato T,
Klasser G,
Koutris M,
Lavigne GJ,
Paesani D,
Peroz I,
Svensson P,
Wetselaar P,
Lobbezoo F</span><br />
<span class="medgenPMjournal">J Oral Rehabil</span>
2024 Jan;51(1):29-58.
Epub 2023 Feb 10
doi: 10.1111/joor.13411.
<span class="bold">PMID: </span><a href="/pubmed/36597658" target="_blank">36597658</a></div>
<div class="nl"><a target="_blank" href="/pubmed/36444852">Common therapeutic approaches in sleep and awake bruxism - an overview.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Matusz K,
Maciejewska-Szaniec Z,
Gredes T,
Pobudek-Radzikowska M,
Glapiński M,
Górna N,
Przystańska A</span><br />
<span class="medgenPMjournal">Neurol Neurochir Pol</span>
2022;56(6):455-463.
Epub 2022 Nov 29
doi: 10.5603/PJNNS.a2022.0073.
<span class="bold">PMID: </span><a href="/pubmed/36444852" target="_blank">36444852</a></div>
<div class="nl"><a target="_blank" href="/pubmed/34574467">Sleep Bruxism in Children: Etiology, Diagnosis, and Treatment-A Literature Review.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Bulanda S,
Ilczuk-Rypuła D,
Nitecka-Buchta A,
Nowak Z,
Baron S,
Postek-Stefańska L</span><br />
<span class="medgenPMjournal">Int J Environ Res Public Health</span>
2021 Sep 10;18(18)
doi: 10.3390/ijerph18189544.
<span class="bold">PMID: </span><a href="/pubmed/34574467" target="_blank">34574467</a><a href="/pmc/articles/PMC8471284" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/29926505">International consensus on the assessment of bruxism: Report of a work in progress.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Lobbezoo F,
Ahlberg J,
Raphael KG,
Wetselaar P,
Glaros AG,
Kato T,
Santiago V,
Winocur E,
De Laat A,
De Leeuw R,
Koyano K,
Lavigne GJ,
Svensson P,
Manfredini D</span><br />
<span class="medgenPMjournal">J Oral Rehabil</span>
2018 Nov;45(11):837-844.
Epub 2018 Jun 21
doi: 10.1111/joor.12663.
<span class="bold">PMID: </span><a href="/pubmed/29926505" target="_blank">29926505</a><a href="/pmc/articles/PMC6287494" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Bruxism%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 (1249)</a></div><h3 class="subhead">Therapy</h3>
<div class="nl"><a target="_blank" href="/pubmed/33331675">Bruxism: Best Evidence Consensus Statement.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Goldstein G,
DeSantis L,
Goodacre C</span><br />
<span class="medgenPMjournal">J Prosthodont</span>
2021 Apr;30(S1):91-101.
doi: 10.1111/jopr.13308.
<span class="bold">PMID: </span><a href="/pubmed/33331675" target="_blank">33331675</a></div>
<div class="nl"><a target="_blank" href="/pubmed/32053883">Use of Botulinum Toxin in Orofacial Clinical Practice.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Serrera-Figallo MA,
Ruiz-de-León-Hernández G,
Torres-Lagares D,
Castro-Araya A,
Torres-Ferrerosa O,
Hernández-Pacheco E,
Gutierrez-Perez JL</span><br />
<span class="medgenPMjournal">Toxins (Basel)</span>
2020 Feb 11;12(2)
doi: 10.3390/toxins12020112.
<span class="bold">PMID: </span><a href="/pubmed/32053883" target="_blank">32053883</a><a href="/pmc/articles/PMC7076767" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/31246937">Efficacy of botulinum toxin in the treatment of bruxism: Systematic review.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Fernández-Núñez T,
Amghar-Maach S,
Gay-Escoda C</span><br />
<span class="medgenPMjournal">Med Oral Patol Oral Cir Bucal</span>
2019 Jul 1;24(4):e416-e424.
doi: 10.4317/medoral.22923.
<span class="bold">PMID: </span><a href="/pubmed/31246937" target="_blank">31246937</a><a href="/pmc/articles/PMC6667018" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/25233570">Enamel craze lines.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Larson TD</span><br />
<span class="medgenPMjournal">Northwest Dent</span>
2014 Jul-Aug;93(4):31-4.
<span class="bold">PMID: </span><a href="/pubmed/25233570" target="_blank">25233570</a></div>
<div class="nl"><a target="_blank" href="/pubmed/4609874">Bruxism.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Schärer P</span><br />
<span class="medgenPMjournal">Front Oral Physiol</span>
1974;1(0):293-322.
<span class="bold">PMID: </span><a href="/pubmed/4609874" target="_blank">4609874</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Bruxism%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 (872)</a></div><h3 class="subhead">Prognosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/39244249">Sleep Disorders Affecting Prognosis of Dental Treatment.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Colonna A,
Thomas DC,
Do TT,
Manfredini D</span><br />
<span class="medgenPMjournal">Dent Clin North Am</span>
2024 Oct;68(4):647-657.
Epub 2024 Jul 8
doi: 10.1016/j.cden.2024.05.002.
<span class="bold">PMID: </span><a href="/pubmed/39244249" target="_blank">39244249</a></div>
<div class="nl"><a target="_blank" href="/pubmed/37628658">Multidisciplinary Management of Rett Syndrome: Twenty Years' Experience.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Vilvarajan S,
McDonald M,
Douglas L,
Newham J,
Kirkland R,
Tzannes G,
Tay D,
Christodoulou J,
Thompson S,
Ellaway C</span><br />
<span class="medgenPMjournal">Genes (Basel)</span>
2023 Aug 11;14(8)
doi: 10.3390/genes14081607.
<span class="bold">PMID: </span><a href="/pubmed/37628658" target="_blank">37628658</a><a href="/pmc/articles/PMC10454341" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/36694050">Effectiveness of Botulinum Toxin Injection on Bruxism: A Systematic Review and Meta-analysis of Randomized Controlled Trials.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Chen Y,
Tsai CH,
Bae TH,
Huang CY,
Chen C,
Kang YN,
Chiu WK</span><br />
<span class="medgenPMjournal">Aesthetic Plast Surg</span>
2023 Apr;47(2):775-790.
Epub 2023 Jan 24
doi: 10.1007/s00266-023-03256-8.
<span class="bold">PMID: </span><a href="/pubmed/36694050" target="_blank">36694050</a></div>
<div class="nl"><a target="_blank" href="/pubmed/33678438">Bruxism definition: Past, present, and future - What should a prosthodontist know?</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Manfredini D,
Ahlberg J,
Lobbezoo F</span><br />
<span class="medgenPMjournal">J Prosthet Dent</span>
2022 Nov;128(5):905-912.
Epub 2021 Mar 5
doi: 10.1016/j.prosdent.2021.01.026.
<span class="bold">PMID: </span><a href="/pubmed/33678438" target="_blank">33678438</a></div>
<div class="nl"><a target="_blank" href="/pubmed/10214650">Ethnicity and bruxism.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Hicks RA,
Lucero-Gorman K,
Bautista J,
Hicks GJ</span><br />
<span class="medgenPMjournal">Percept Mot Skills</span>
1999 Feb;88(1):240-1.
doi: 10.2466/pms.1999.88.1.240.
<span class="bold">PMID: </span><a href="/pubmed/10214650" target="_blank">10214650</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Bruxism%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 (463)</a></div><h3 class="subhead">Clinical prediction guides</h3>
<div class="nl"><a target="_blank" href="/pubmed/37739056">Prevalence of awake Bruxism: A systematic review.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Oliveira JMD,
Pauletto P,
Massignan C,
D'Souza N,
Gonçalves DAG,
Flores-Mir C,
De Luca Canto G</span><br />
<span class="medgenPMjournal">J Dent</span>
2023 Nov;138:104715.
Epub 2023 Sep 20
doi: 10.1016/j.jdent.2023.104715.
<span class="bold">PMID: </span><a href="/pubmed/37739056" target="_blank">37739056</a></div>
<div class="nl"><a target="_blank" href="/pubmed/33678438">Bruxism definition: Past, present, and future - What should a prosthodontist know?</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Manfredini D,
Ahlberg J,
Lobbezoo F</span><br />
<span class="medgenPMjournal">J Prosthet Dent</span>
2022 Nov;128(5):905-912.
Epub 2021 Mar 5
doi: 10.1016/j.prosdent.2021.01.026.
<span class="bold">PMID: </span><a href="/pubmed/33678438" target="_blank">33678438</a></div>
<div class="nl"><a target="_blank" href="/pubmed/34574467">Sleep Bruxism in Children: Etiology, Diagnosis, and Treatment-A Literature Review.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Bulanda S,
Ilczuk-Rypuła D,
Nitecka-Buchta A,
Nowak Z,
Baron S,
Postek-Stefańska L</span><br />
<span class="medgenPMjournal">Int J Environ Res Public Health</span>
2021 Sep 10;18(18)
doi: 10.3390/ijerph18189544.
<span class="bold">PMID: </span><a href="/pubmed/34574467" target="_blank">34574467</a><a href="/pmc/articles/PMC8471284" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/29533049">Risk factors for bruxism.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Kuhn M,
Türp JC</span><br />
<span class="medgenPMjournal">Swiss Dent J</span>
2018 Feb 12;128(2):118-124.
doi: 10.61872/sdj-2018-02-369.
<span class="bold">PMID: </span><a href="/pubmed/29533049" target="_blank">29533049</a></div>
<div class="nl"><a target="_blank" href="/pubmed/26329448">Overview on Sleep Bruxism for Sleep Medicine Clinicians.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Carra MC,
Huynh N,
Fleury B,
Lavigne G</span><br />
<span class="medgenPMjournal">Sleep Med Clin</span>
2015 Sep;10(3):375-84, xvi.
Epub 2015 Jul 8
doi: 10.1016/j.jsmc.2015.05.005.
<span class="bold">PMID: </span><a href="/pubmed/26329448" target="_blank">26329448</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Bruxism%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 (928)</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/37589382">Bruxism and dental implants: A systematic review and meta-analysis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Häggman-Henrikson B,
Ali D,
Aljamal M,
Chrcanovic BR</span><br />
<span class="medgenPMjournal">J Oral Rehabil</span>
2024 Jan;51(1):202-217.
Epub 2023 Aug 17
doi: 10.1111/joor.13567.
<span class="bold">PMID: </span><a href="/pubmed/37589382" target="_blank">37589382</a></div>
<div class="nl"><a target="_blank" href="/pubmed/34879286">Associations between sleep bruxism and other sleep-related disorders in adults: a systematic review.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Kuang B,
Li D,
Lobbezoo F,
de Vries R,
Hilgevoord A,
de Vries N,
Huynh N,
Lavigne G,
Aarab G</span><br />
<span class="medgenPMjournal">Sleep Med</span>
2022 Jan;89:31-47.
Epub 2021 Nov 19
doi: 10.1016/j.sleep.2021.11.008.
<span class="bold">PMID: </span><a href="/pubmed/34879286" target="_blank">34879286</a></div>
<div class="nl"><a target="_blank" href="/pubmed/33678438">Bruxism definition: Past, present, and future - What should a prosthodontist know?</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Manfredini D,
Ahlberg J,
Lobbezoo F</span><br />
<span class="medgenPMjournal">J Prosthet Dent</span>
2022 Nov;128(5):905-912.
Epub 2021 Mar 5
doi: 10.1016/j.prosdent.2021.01.026.
<span class="bold">PMID: </span><a href="/pubmed/33678438" target="_blank">33678438</a></div>
<div class="nl"><a target="_blank" href="/pubmed/31246937">Efficacy of botulinum toxin in the treatment of bruxism: Systematic review.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Fernández-Núñez T,
Amghar-Maach S,
Gay-Escoda C</span><br />
<span class="medgenPMjournal">Med Oral Patol Oral Cir Bucal</span>
2019 Jul 1;24(4):e416-e424.
doi: 10.4317/medoral.22923.
<span class="bold">PMID: </span><a href="/pubmed/31246937" target="_blank">31246937</a><a href="/pmc/articles/PMC6667018" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/30993738">Bruxism: An umbrella review of systematic reviews.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Melo G,
Duarte J,
Pauletto P,
Porporatti AL,
Stuginski-Barbosa J,
Winocur E,
Flores-Mir C,
De Luca Canto G</span><br />
<span class="medgenPMjournal">J Oral Rehabil</span>
2019 Jul;46(7):666-690.
Epub 2019 May 7
doi: 10.1111/joor.12801.
<span class="bold">PMID: </span><a href="/pubmed/30993738" target="_blank">30993738</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Bruxism%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 (143)</a></div></div>
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<div class="portlet_content ln"><ul><li><a href="https://clinicaltrials.gov/search?cond=Bruxism" target="_blank">ClinicalTrials.gov</a></li></ul></div>
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