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<!--
|
||
UID=1710990
|
||
ConceptID=C4760994
|
||
-->
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<!--imgCountBooks = 0--><div class="ncbi_carousel" data-ncbicarousel-config="imageWidth:'100px',numItemsVisible:2,toggler:false"><div class="nc_header"><span class="img_strip_title">Image</span></div><div class="nc_content"><div class="nc_item"><a class="figpopup"><img alt="Figure 1" src="/projects/medgen/images/thumb/224e1bf4e42c7ea7.1.thumb.jpg" src-large="/projects/medgen/images/224e1bf4e42c7ea7.1.jpg" /></a><br /><a href="http://elementsofmorphology.nih.gov/index.cgi?tid=224e1bf4e42c7ea7" target="_blank" title="Elements of Morphology: Human Malformation Terminology - NHGRI">details</a></div></div></div><h1 class="medgenTitle"><div class="MedGenTitleText">Periorbital fullness</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1710990</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.">C4760994</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
||
<td>Periorbital puffiness</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:0000629">HP:0000629</a></td></tr>
|
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</tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
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<div class="portlet mgSection" id="ID_100">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">Increase in periorbital soft tissue. [from <a title="Human Phenotype Ontology" href="http://www.human-phenotype-ontology.org" class="defSource" target="_blank">HPO</a>]</div>
|
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</div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
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<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C4760994[DISCUI]&test_type=Clinical" ref="ncbi_uid=1710990">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=1710990" ref="ncbi_uid=1710990">V</a></span></span><span class="TLline">Periorbital fullness</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/867443" ref="tree=MeSH" title="MedGen record for Phenotypic abnormality">Phenotypic abnormality</a></span><ul><li><span class="TLline"><a href="/medgen/867442" ref="tree=MeSH" title="MedGen record for Abnormality of head or neck">Abnormality of head or neck</a></span><ul><li><span class="TLline"><a href="/medgen/867438" ref="tree=MeSH" title="MedGen record for Abnormality of the head">Abnormality of the head</a></span><ul><li><span class="TLline"><a href="/medgen/871375" ref="tree=MeSH" title="MedGen record for Abnormality of the face">Abnormality of the face</a></span><ul><li><span class="TLline"><a href="/medgen/871344" ref="tree=MeSH" title="MedGen record for Abnormality of the periorbital region">Abnormality of the periorbital region</a></span><ul><li><span class="matched_ds">Periorbital fullness</span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
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</div>
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<div class="portlet mgSection" id="ID_112">
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||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Conditions_with_this_feature">Conditions with this feature</h1><a sid="112" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln clinfeat">
|
||
<div class="divPopper rprt" id="rdis_59799"><div><strong>Williams syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>59799</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.">C0175702</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Williams syndrome (WS) is characterized by developmental delay, intellectual disability (usually mild), a specific cognitive profile, unique personality characteristics, cardiovascular disease (supravalvar aortic stenosis, peripheral pulmonary stenosis, hypertension), connective tissue abnormalities, growth deficiency, endocrine abnormalities (early puberty, hypercalcemia, hypercalciuria, hypothyroidism), and distinctive facies. Hypotonia and hyperextensible joints can result in delayed attainment of motor milestones. Feeding difficulties often lead to poor weight gain in infancy.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/59799">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_120540"><div><strong>Pallister-Killian syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>120540</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.">C0265449</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Pallister-Killian syndrome (PKS) is a dysmorphic condition involving most organ systems, but is also characterized by a tissue-limited mosaicism; most fibroblasts have 47 chromosomes with an extra small metacentric chromosome, whereas the karyotype of lymphocytes is normal. The extra metacentric chromosome is an isochromosome for part of the short arm of chromosome 12: i(12)(p10) (Peltomaki et al., 1987; Warburton et al., 1987).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/120540">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_137980"><div><strong>Sialuria</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>137980</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.">C0342853</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Sialuria is a rare inborn error of metabolism in which excessive free sialic acid is synthesized. Clinical features include hepatosplenomegaly, coarse facial features, and varying degrees of developmental delay (summary by Enns et al., 2001).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/137980">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_167112"><div><strong>Intellectual disability, X-linked 9</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>167112</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.">C0796215</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
|
||
<div class="spaceAbove">X-linked intellectual developmental disorder-9 (XLID9) is characterized by moderately to severely impaired intellectual development. Some patients have also been reported with delayed motor development, seizures, and/or behavioral problems (Hamel et al., 1999; Froyen et al., 2007).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/167112">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_208681"><div><strong>Intellectual disability, X-linked, with or without seizures, arx-related</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>208681</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.">C0796244</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Intellectual developmental disorder-29 (XLID29) is a nonspecific form of XLID. It is part of a phenotypic spectrum of disorders caused by mutation in the ARX gene comprising a nearly continuous series of developmental disorders ranging from lissencephaly (LISX2; 300215) to Proud syndrome (300004) to infantile spasms without brain malformations (DEE1; 308350) to Partington syndrome (309510) (Kato et al., 2004; Wallerstein et al., 2008).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/208681">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_315643"><div><strong>Focal facial dermal dysplasia type III</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>315643</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.">C1744559</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The focal dermal dysplasias (FFDDs) are a group of related developmental defects characterized by bitemporal or preauricular skin lesions resembling aplasia cutis congenita. FFFD3 is an autosomal recessive disorder characterized by bitemporal skin lesions with variable facial findings, including thin and puckered periorbital skin, distichiasis and/or absent eyelashes, upslanting palpebral fissures, a flat nasal bridge with a broad nasal tip, large lips, and redundant facial skin (summary by Slavotinek et al., 2013). FFDD2 (614973) is characterized by the same facial features as FFDD3, but the inheritance is autosomal dominant. For a classification and a discussion of genetic heterogeneity of FFDD, see FFDD1 (136500).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/315643">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_330752"><div><strong>Large congenital melanocytic nevus</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>330752</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.">C1842036</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div></div>
|
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<div class="spaceAbove">Congenital melanocytic nevus syndrome is characterized by pigmentary skin defects apparent at birth. Most individuals have 1 or more large or giant lesions greater than 20 cm and up to over 60 cm in diameter, which may cover up to 80% of total body area. These lesions may or may not be hairy. Smaller 'satellite' pigmented lesions numbering in the hundreds may also be present all over the body. Congenital melanocytic nevi (CMN) can be associated with malignant melanoma (see CMM1, 155600), but the risk appears to be low, ranging from 1 to 2% for all individuals, but rising to 10 to 15% in those with very large nevi (greater than 40 cm). A small subset of patients with CMNS have abnormalities of the central nervous system, known as 'neurocutaneous melanosis' or 'neuromelanosis' (249400), which may be symptomatic. Patients with CMNS also tend to have a characteristic facial appearance, including wide or prominent forehead, periorbital fullness, small short nose with narrow nasal bridge, round face, full cheeks, prominent premaxilla, and everted lower lip (summary by Kinsler et al., 2008; Kinsler et al., 2012). Spitz nevi are benign melanocytic melanomas composed of epithelioid or spindle cell melanocytes. They usually present as solitary skin tumors but can occur in multiple patterns, having agminated, dermatomal, and disseminated forms (summary by Sarin et al., 2013). Nevus spilus, also known as speckled lentiginous nevus, is a congenital hyperpigmented patch that progressively evolves, with affected individuals developing dark macules and papules during childhood and adolescence. Over time, nevus spilus may give rise to common lentigines, melanocytic nevi, Spitz nevi, and melanomas (summary by Sarin et al., 2014).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/330752">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_335348"><div><strong>Syndromic X-linked intellectual disability Shashi type</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>335348</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.">C1846145</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The Shashi type of X-linked syndromic intellectual developmental disorder (MRXSSH) is characterized by moderately impaired intellectual development and distinctive craniofacial skeletal structure and dysmorphism (Shashi et al., 2015).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/335348">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_444060"><div><strong>Cardiospondylocarpofacial syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>444060</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.">C2931461</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Cardiospondylocarpofacial syndrome (CSCF) is characterized by growth retardation, dysmorphic facial features, brachydactyly with carpal-tarsal fusion, extensive posterior cervical vertebral synostosis, cardiac septal defects with valve dysplasia, and deafness with inner ear malformations (summary by Le Goff et al., 2016).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/444060">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_766916"><div><strong>Peroxisome biogenesis disorder 12A (Zellweger)</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>766916</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.">C3554002</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Zellweger syndrome (ZS) is an autosomal recessive multiple congenital anomaly syndrome resulting from disordered peroxisome biogenesis. Affected children present in the newborn period with profound hypotonia, seizures, and inability to feed. Characteristic craniofacial anomalies, eye abnormalities, neuronal migration defects, hepatomegaly, and chondrodysplasia punctata are present. Children with this condition do not show any significant development and usually die in the first year of life (summary by Steinberg et al., 2006). For a complete phenotypic description and a discussion of genetic heterogeneity of Zellweger syndrome, see 214100. Individuals with PBDs of complementation group 14 (CG14, equivalent to CGJ) have mutations in the PEX19 gene. For information on the history of PBD complementation groups, see 214100.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/766916">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_814630"><div><strong>Chromosome 17p13.3 duplication syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>814630</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.">C3808300</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">17p13.3 microduplication syndrome is characterized by variable psychomotor delay and dysmorphic features.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/814630">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_862929"><div><strong>Developmental and epileptic encephalopathy, 23</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>862929</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.">C4014492</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Developmental and epileptic encephalopathy-23 (DEE23) is an autosomal recessive neurologic disorder characterized by the onset of intractable seizures in the first months of life (range, 2-6 months). Affected individuals have severely impaired psychomotor development with poor or absent speech, cortical blindness, and dysmorphic facial features (summary by Perrault et al., 2014).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/862929">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_862977"><div><strong>Colobomatous microphthalmia-rhizomelic dysplasia syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>862977</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.">C4014540</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Colobomatous microphthalmia-rhizomelic dysplasia syndrome is a rare, genetic developmental defect during embryogenesis characterized by a range of developmental eye anomalies (including anophthalmia, microphthalmia, colobomas, microcornea, corectopia, cataract) and symmetric limb rhizomelia with short stature and contractures of large joints. Intellectual disability with autistic features, macrocephaly, dysmorphic features, urogenital anomalies (hypospadia, cryptorchidism), cutaneous syndactyly and precocious puberty may also be present.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/862977">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_934599"><div><strong>Epilepsy, early-onset, vitamin B6-dependent</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>934599</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.">C4310632</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">PLPBP deficiency is a treatable form of vitamin B6-dependent early-onset epileptic encephalopathy. Seizure onset is typically in the neonatal period (i.e., within the first 28 days after birth), and rarely in childhood after the neonatal period. Seizures are unresponsive to (or only partly responsive to) anti-seizure medications (ASMs) but typically show an immediate positive response to vitamin B6, given as either pyridoxine (PN) or pyridoxal 5'-phosphate (PLP). This therapy needs to be continued lifelong. In addition to vitamin B6 treatment, almost 60% of individuals require adjunct ASMs to achieve optimal seizure control. Although many individuals with PLPBP deficiency have normal motor, speech, and intellectual development, more than 50% have varying degrees of neurodevelopmental issues, including learning difficulties or intellectual disability (varying from mild to severe), delayed or absent speech development, or motor development abnormalities (most commonly mild hypotonia).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/934599">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_934707"><div><strong>Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>934707</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.">C4310740</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">TRIO-related neurodevelopmental disorder (TRIO-NDD) is characterized by two phenotypes: TRIO-NDD due to gain-of-function variants and TRIO-NDD due to loss-of-function variants. TRIO-NDD due to gain-of-function variants within the spectrin repeat domain is characterized by moderate-to-severe developmental delay, intellectual disability, macrocephaly (or relative macrocephaly), neurobehavioral manifestations (poor attention, stereotypies, obsessive-compulsive behavior, aggressive behavior, and autism spectrum disorder), and early feeding difficulties with poor weight gain and growth deficiency. Seizures, constipation, scoliosis, dental abnormalities, and cardiac anomalies are also reported. TRIO-NDD due to loss-of-function variants is characterized by mild-to-moderate developmental delay and intellectual disability, microcephaly, neurobehavioral manifestations (poor attention, aggressive behavior, autism spectrum disorder, obsessive-compulsive traits, and stereotypies), early feeding difficulties with poor weight gain, dental abnormalities, and digit anomalies, including 2-3 toe syndactyly in some individuals. Seizures, constipation, scoliosis, and cardiac anomalies are also reported.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/934707">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1385755"><div><strong>Autosomal recessive cutis laxa type 2C</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1385755</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.">C4479387</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Autosomal recessive cutis laxa type IIC (ARCL2C) is characterized by generalized skin wrinkling with sparse subcutaneous fat and dysmorphic progeroid facial features. Most patients also exhibit severe hypotonia as well as cardiovascular involvement (summary by Van Damme et al., 2017). For a general phenotypic description and a discussion of genetic heterogeneity of autosomal recessive cutis laxa, see ARCL1A (219100).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1385755">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1374289"><div><strong>Brachycephaly, trichomegaly, and developmental delay</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1374289</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.">C4479431</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">BTDD is an autosomal dominant disorder characterized by brachycephaly, trichomegaly, and developmental delay. Although it is caused by dysfunction of the ribosome, patients do not have anemia (summary by Paolini et al., 2017).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1374289">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1375401"><div><strong>Gabriele de Vries syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1375401</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.">C4479652</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Gabriele-de Vries syndrome is characterized by mild-to-profound developmental delay / intellectual disability (DD/ID) in all affected individuals and a wide spectrum of functional and morphologic abnormalities. Intrauterine growth restriction or low birth weight and feeding difficulties are common. Congenital brain, eye, heart, kidney, genital, and/or skeletal system anomalies have also been reported. About half of affected individuals have neurologic manifestations, including hypotonia and gait abnormalities. Behavioral issues can include attention-deficit/hyperactivity disorder, anxiety, autism or autistic behavior, and schizoaffective disorder.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1375401">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1619150"><div><strong>Pilarowski-Bjornsson syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1619150</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.">C4540131</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Pilarowski-Bjornsson syndrome (PILBOS) is an autosomal dominant neurodevelopmental disorder characterized by delayed development, impaired intellectual development, often with autistic features, speech apraxia, and mild dysmorphic features. Some patients may have seizures. The phenotype is somewhat variable (summary by Pilarowski et al., 2018).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1619150">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1631916"><div><strong>Multiple benign circumferential skin creases on limbs 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1631916</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.">C4551592</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/1631916">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1643555"><div><strong>3p- syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1643555</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.">C4706503</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Characteristic features of the distal 3p- syndrome include low birth weight, microcephaly, trigonocephaly, hypotonia, psychomotor and growth retardation, ptosis, telecanthus, downslanting palpebral fissures, and micrognathia. Postaxial polydactyly, renal anomalies, cleft palate, congenital heart defects (especially atrioventricular septal defects), preauricular pits, sacral dimple, and gastrointestinal anomalies are variable features. Although intellectual deficits are almost invariably associated with cytogenetically visible 3p deletions, rare patients with a 3p26-p25 deletion and normal intelligence or only mild abnormalities have been described (summary by Shuib et al., 2009).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1643555">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1648498"><div><strong>Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1648498</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.">C4748135</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/1648498">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1656239"><div><strong>Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1656239</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.">C4750837</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">ASXL3-related disorder is characterized by developmental delay or intellectual disability, typically in the moderate to severe range, with speech and language delay and/or absent speech. Affected individuals may also display autistic features. There may be issues with feeding. While dysmorphic facial features have been described, they are typically nonspecific. Affected individuals may also have hypotonia that can transition to spasticity resulting in unusual posture with flexion contractions of the elbows, wrists, and fingers. Other findings may include poor postnatal growth, strabismus, seizures, sleep disturbance, and dental anomalies.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1656239">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1674560"><div><strong>Galloway-Mowat syndrome 6</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1674560</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.">C5193043</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Galloway-Mowat syndrome is a phenotypically heterogeneous disorder characterized by neurodevelopmental defects combined with renal-glomerular disease manifest as nephrotic syndrome and proteinuria. Most patients with GAMOS6 also have growth deficiency with variable microcephaly, and the renal disease may be age-dependent. Additional variable endocrine abnormalities have also been reported (summary by Braun et al., 2018). For a general phenotypic description and a discussion of genetic heterogeneity of GAMOS, see GAMOS1 (251300).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1674560">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1677130"><div><strong>Houge-Janssens syndrome 3</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1677130</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.">C5193048</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Houge-Janssens syndrome-3 (HJS3) is characterized by global developmental delay apparent from infancy. The phenotype is highly variable: patients may have hypotonia, behavioral abnormalities, and abnormalities on brain imaging, including enlarged ventricles, thin corpus callosum, and sometimes small brainstem. Many develop seizures, sometimes refractory, and some may have nonspecific dysmorphic features. Intellectual impairment can vary from mild to profound, and some patients may benefit from special education and respond well to speech therapy (summary by Reynhout et al., 2019). For a discussion of genetic heterogeneity of HJS, see HJS1 (616355).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1677130">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1683283"><div><strong>Turnpenny-fry syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1683283</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.">C5193060</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Turnpenny-Fry syndrome (TPFS) is characterized by developmental delay, impaired intellectual development, impaired growth, and recognizable facial features that include frontal bossing, sparse hair, malar hypoplasia, small palpebral fissures and oral stoma, and dysplastic 'satyr' ears. Other common findings include feeding problems, constipation, and a range of brain, cardiac, vascular, and skeletal malformations (Turnpenny et al., 2018).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1683283">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1677602"><div><strong>O'Donnell-Luria-Rodan syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1677602</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.">C5193138</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">KMT2E-related neurodevelopmental disorder (KMT2E-NDD) is a condition characterized by global developmental delay, variable intellectual disability (typically in the mild-to-moderate range), and hypotonia. The majority of affected individuals are verbal but experience speech delays with or without articulation problems. All reported individuals who are older than infants have been able to obtain independent ambulation. About one third of affected individuals develop seizures, with no consistent seizure semiology or epilepsy syndrome. However, females may be more likely to develop seizures compared to males. Similarly, about one third of affected individuals have an autism spectrum disorder diagnosis, of which most to date are male. Growth parameters are typically in the normal range for length/height and weight, although about half of affected individuals have macrocephaly or relative macrocephaly. Constipation is the most frequent gastrointestinal issue, although gastroesophageal reflux, vomiting, and/or reduced bowel motility have been reported in almost half of affected individuals. About half of affected individuals experience some type of sleep disturbance, including frequent awakening and difficulties falling asleep.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1677602">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1684867"><div><strong>Intellectual developmental disorder 61</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1684867</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.">C5231400</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Autosomal dominant intellectual developmental disorder-61 (MRD61) is characterized by global developmental delay apparent in infancy with mildly impaired intellectual development, expressive speech delay, and behavioral abnormalities, including autism spectrum disorder and attention deficit-hyperactivity disorder (ADHD). Most affected individuals learn to walk on time or with some mild delay. Additional features are highly variable and may include nonspecific dysmorphic features, obstipation, ocular anomalies, and poor overall growth (Snijders Blok et al., 2018).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1684867">Condition Record</a></div></div>
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||
<div class="divPopper rprt" id="rdis_1738652"><div><strong>Suleiman-El-Hattab syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1738652</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.">C5436458</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Suleiman-El-Hattab syndrome (SULEHS) is an autosomal recessive multisystem developmental disorder characterized by hypotonia and feeding difficulties soon after birth, global developmental delay with impaired intellectual development and poor expressive speech, and a general happy demeanor. There is a distinctive facial appearance with microcephaly, thick arched eyebrows with synophrys, hypertelorism, epicanthal folds, low-set ears, broad nasal bridge, and thin upper lip. Additional more variable features include recurrent respiratory infections, cardiovascular malformations, cryptorchidism, seizures, and distal anomalies of the hands and feet (summary by Suleiman et al., 2019).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1738652">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1778926"><div><strong>Neurofacioskeletal syndrome with or without renal agenesis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1778926</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.">C5543070</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Neurofacioskeletal syndrome with or without renal agenesis (NFSRA) is characterized by developmental delay and/or intellectual disability; corpus callosum hypoplasia or agenesis; facial dysmorphism, including upslanting palpebral fissures, broad nasal tip, and wide mouth; and skeletal abnormalities, including short stature, scoliosis, and flexion contractures, with broad fingertips and/or toes. Renal agenesis, unilateral or bilateral, has also been observed in some patients (Schneeberger et al., 2020).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1778926">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1778557"><div><strong>Radio-Tartaglia syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1778557</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.">C5543339</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Radio-Tartaglia syndrome (RATARS) is a neurodevelopmental disorder characterized by global developmental delay with impaired intellectual development, speech delay, and variable behavioral abnormalities. Affected individuals show hypotonia, mild motor difficulties, and craniofacial dysmorphism. Brain imaging may show nonspecific defects; rare patients have seizures or pyramidal signs. A subset of individuals may have congenital heart defects, precocious puberty, and obesity in females. Some of the features are similar to those observed in patients with chromosome 1p36 deletion syndrome (607872) (summary by Radio et al., 2021).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1778557">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1794181"><div><strong>Congenital disorder of glycosylation, type 2v</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1794181</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.">C5561971</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Congenital disorder of glycosylation type 2v (CDG2V) is an autosomal recessive disorder characterized by neurodevelopmental delay and variable facial dysmorphisms (Polla et al., 2021).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1794181">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1794185"><div><strong>Chopra-Amiel-Gordon syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1794185</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.">C5561975</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">ANKRD17-related neurodevelopmental syndrome is characterized by developmental delay – particularly affecting speech – and variable intellectual disability. Additional features include autism spectrum disorder, attention-deficit/hyperactivity disorder, ophthalmologic abnormalities (strabismus and refractive errors), growth deficiency, feeding difficulties, recurrent infections, gait and/or balance disturbances, and epilepsy. Characteristic craniofacial features include triangular face shape, high anterior hairline, deep-set and/or almond-shaped eyes with periorbital fullness, low-set ears, thick nasal alae and flared nostrils, full cheeks, and thin vermilion of the upper lip. Less common but distinctive features include cleft palate with Pierre Robin sequence, renal agenesis, and scoliosis.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1794185">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1794222"><div><strong>Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1794222</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.">C5562012</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities (DEHMBA) is an early-onset neurodevelopmental disorder characterized by these features. Affected individuals also have nonspecific and variable dysmorphic facial features that do not constitute a recognizable gestalt. Although the disorder is caused by truncating mutations in the SRCAP gene as is FLHS, the DEHMBA phenotype is clinically distinguishable from FLHS by the lack of short stature, brachydactyly, and delayed bone age, as well as absence of a specific facial appearance. There are some overlapping features between the 2 disorders, mainly impaired intellectual development and speech delay (summary by Rots et al., 2021).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1794222">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1794266"><div><strong>Brunet-Wagner neurodevelopmental syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1794266</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.">C5562056</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Brunet-Wagner neurodevelopmental syndrome (BRUWAG) is an autosomal recessive disorder characterized by infantile hypotonia and severely impaired development affecting both motor and cognitive skills. Affected individuals either do not achieve independent ambulation or walk with an unsteady gait; those who walk may lose the ability due to spasticity of the lower limbs. They have absent language, poor or absent social skills, and behavioral abnormalities. Most have variable ocular findings, including nystagmus, strabismus, optic atrophy, myopia, or hypermetropia (summary by Brunet et al., 2020 and Samra et al., 2021).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1794266">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1794271"><div><strong>Rauch-Steindl syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1794271</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.">C5562061</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Rauch-Steindl syndrome (RAUST) is characterized by poor pre- and postnatal growth, sometimes with short stature and small head circumference, characteristic dysmorphic facial features, and variable developmental delay with delayed motor and speech acquisition and impaired intellectual function that can be mild. Other features may include hypotonia and behavioral abnormalities. The phenotype represents a mild form of Wolf-Hirschhorn syndrome (WHS; 194190), which is a contiguous gene deletion syndrome caused by heterozygous deletion of several genes on chromosome 4p16. The clinical features of RAUST are similar to but milder than those of WHS, with less severe dysmorphic facial features, less severe developmental disabilities in general, and absence of a seizure disorder. The phenotype and expressivity of RAUST is highly variable (summary by Rauch et al., 2001; Zanoni et al., 2021).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1794271">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1810214"><div><strong>3-methylglutaconic aciduria, type VIIB</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1810214</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.">C5676893</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">CLPB (caseinolytic peptidase B) deficiency is characterized by neurologic involvement and neutropenia, which can range from severe to mild. In severe CLPB deficiency, death usually occurs at a few months of age due to significant neonatal neurologic involvement (hyperekplexia or absence of voluntary movements, hypotonia or hypertonia, swallowing problems, respiratory insufficiency, and epilepsy) and severe neutropenia associated with life-threatening infections. Individuals with moderate CLPB deficiency present with neurologic abnormalities in infancy including hypotonia and feeding problems, and develop spasticity, a progressive movement disorder (ataxia, dystonia, and/or dyskinesia), epilepsy, and intellectual disability. Neutropenia is variable, but not life threatening. In those with mild CLPB deficiency there is no neurologic involvement, intellect is normal, neutropenia is mild and intermittent, and life expectancy is normal.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1810214">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1810348"><div><strong>Tessadori-van Haaften neurodevelopmental syndrome 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1810348</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.">C5676922</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-1 (TEBIVANED1) is characterized by poor overall growth with short stature, microcephaly, hypotonia, profound global developmental delay often with poor or absent speech, and characteristic dysmorphic facial features, including hypertelorism and abnormal nose. Other variable neurologic and systemic features may also occur (Tessadori et al., 2017). Genetic Heterogeneity of Tessadori-van Haaften Neurodevelopmental Syndrome See also TEBIVANED2 (619759), caused by mutation in the H4C11 gene (602826); TEBIVANED3 (619950), caused by mutation in the H4C5 gene (602830); and TEBIVANED4 (619951), caused by mutation in the H4C9 gene (602833).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1810348">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1803228"><div><strong>Tessadori-van Haaften neurodevelopmental syndrome 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1803228</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.">C5676923</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-2 (TEBIVANED2) is characterized by poor overall growth, profound global developmental delay with absent speech, and characteristic dysmorphic facial features, including hypertelorism, abnormal nose, and wide mouth (Tessadori et al., 2020). For a discussion of genetic heterogeneity of Tessadori-Bicknell-van Haaften neurodevelopmental syndrome, see TEBIVANED1 (619758).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1803228">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1803456"><div><strong>Neurodevelopmental disorder with neuromuscular and skeletal abnormalities</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1803456</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.">C5676965</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Neurodevelopmental disorder with neuromuscular and skeletal abnormalities (NEDNMS) is an autosomal recessive disorder characterized by global developmental delay apparent from infancy or early childhood. The severity of the disorder is highly variable. Affected individuals show impaired intellectual development and motor delay associated with either severe hypotonia or hypertonia and spasticity. Most affected individuals have skeletal defects and dysmorphic facial features. Some may have ocular or auditory problems, peripheral neuropathy, behavioral abnormalities, and nonspecific findings on brain imaging (Kurolap et al., 2022).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1803456">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1802176"><div><strong>Intellectual developmental disorder, autosomal dominant 68</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1802176</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.">C5677008</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Autosomal dominant intellectual developmental disorder-68 (MRD68) is characterized by developmental delay/intellectual disability, microcephaly, poor growth, feeding difficulties, and dysmorphic features. Some patients may have autism spectrum disorder or attention deficit-hyperactivity disorder (ADHD) (Cif et al., 2020).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1802176">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1824042"><div><strong>Rabin-Pappas syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1824042</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.">C5774269</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Rabin-Pappas syndrome (RAPAS) is a multisystemic disorder characterized by severely impaired global development apparent from infancy, feeding difficulties with failure to thrive, small head circumference, and dysmorphic facial features. Affected individuals have impaired intellectual development and hypotonia; they do not achieve walking or meaningful speech. Other neurologic findings may include seizures, hearing loss, ophthalmologic defects, and brain imaging abnormalities. There is variable involvement of other organ systems, including skeletal, genitourinary, cardiac, and possibly endocrine (Rabin et al., 2020).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1824042">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1824044"><div><strong>Intellectual developmental disorder, autosomal dominant 70</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1824044</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.">C5774271</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Autosomal dominant intellectual developmental disorder-70 (MRD70) is characterized by mild global developmental delay, moderately impaired intellectual disability with speech difficulties, and behavioral abnormalities. More variable findings may include hypotonia and dysmorphic features (Rabin et al., 2020)</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1824044">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_1824096"><div><strong>LADD syndrome 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1824096</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.">C5774323</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Lacrimoauriculodentodigital syndrome-1 (LADD1) is a multiple congenital anomaly disorder mainly affecting lacrimal glands and ducts, salivary glands and ducts, ears, teeth, and distal limb segments (summary by Rohmann et al., 2006). Genetic Heterogeneity of Lacrimoauriculodentodigital Syndrome LADD syndrome-2 (LADD2; 620192) is caused by mutation in the FGFR3 gene (134934) on chromosome 4p16, and LADD syndrome-3 (LADD3; 620193) is caused by mutation in the FGF10 gene, an FGFR ligand, on chromosome 5p12.</div>
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||
<div class="spaceAbove nowrap">See: <a href="/medgen/1824096">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) Click for more information.">C5935567</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
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<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>
|
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<div class="spaceAbove nowrap">See: <a href="/medgen/1854940">Condition Record</a></div></div>
|
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1810214" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">3-methylglutaconic aciduria, type VIIB</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1643555" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">3p- syndrome</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1385755" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal recessive cutis laxa type 2C</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1374289" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Brachycephaly, trichomegaly, and developmental delay</a></div>
|
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1794266" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Brunet-Wagner neurodevelopmental syndrome</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (46)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_444060" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cardiospondylocarpofacial syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1794185" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Chopra-Amiel-Gordon syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_814630" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Chromosome 17p13.3 duplication syndrome</a></div>
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_862977" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Colobomatous microphthalmia-rhizomelic dysplasia syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1794181" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Congenital disorder of glycosylation, type 2v</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_862929" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Developmental and epileptic encephalopathy, 23</a></div>
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1794222" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_934599" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Epilepsy, early-onset, vitamin B6-dependent</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_315643" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Focal facial dermal dysplasia type III</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1375401" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Gabriele de Vries syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1674560" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Galloway-Mowat syndrome 6</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1677130" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Houge-Janssens syndrome 3</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1684867" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Intellectual developmental disorder 61</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1648498" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1802176" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Intellectual developmental disorder, autosomal dominant 68</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1824044" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Intellectual developmental disorder, autosomal dominant 70</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_167112" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Intellectual disability, X-linked 9</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_208681" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Intellectual disability, X-linked, with or without seizures, arx-related</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1824096" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">LADD syndrome 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_330752" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Large congenital melanocytic nevus</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_934707" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1631916" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Multiple benign circumferential skin creases on limbs 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1803456" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neurodevelopmental disorder with neuromuscular and skeletal abnormalities</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1778926" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neurofacioskeletal syndrome with or without renal agenesis</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1677602" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">O'Donnell-Luria-Rodan syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_120540" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pallister-Killian syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_766916" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Peroxisome biogenesis disorder 12A (Zellweger)</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1619150" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pilarowski-Bjornsson syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1824042" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Rabin-Pappas syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1778557" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Radio-Tartaglia syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1794271" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Rauch-Steindl syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1656239" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_137980" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Sialuria</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1738652" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Suleiman-El-Hattab syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_335348" 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 Shashi type</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1810348" 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 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1803228" 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 2</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_1683283" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Turnpenny-fry syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_59799" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Williams syndrome</a></div></span></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/29681090">Williams-Beuren syndrome in diverse populations.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kruszka P,
|
||
Porras AR,
|
||
de Souza DH,
|
||
Moresco A,
|
||
Huckstadt V,
|
||
Gill AD,
|
||
Boyle AP,
|
||
Hu T,
|
||
Addissie YA,
|
||
Mok GTK,
|
||
Tekendo-Ngongang C,
|
||
Fieggen K,
|
||
Prijoles EJ,
|
||
Tanpaiboon P,
|
||
Honey E,
|
||
Luk HM,
|
||
Lo IFM,
|
||
Thong MK,
|
||
Muthukumarasamy P,
|
||
Jones KL,
|
||
Belhassan K,
|
||
Ouldim K,
|
||
El Bouchikhi I,
|
||
Bouguenouch L,
|
||
Shukla A,
|
||
Girisha KM,
|
||
Sirisena ND,
|
||
Dissanayake VHW,
|
||
Paththinige CS,
|
||
Mishra R,
|
||
Kisling MS,
|
||
Ferreira CR,
|
||
de Herreros MB,
|
||
Lee NC,
|
||
Jamuar SS,
|
||
Lai A,
|
||
Tan ES,
|
||
Ying Lim J,
|
||
Wen-Min CB,
|
||
Gupta N,
|
||
Lotz-Esquivel S,
|
||
Badilla-Porras R,
|
||
Hussen DF,
|
||
El Ruby MO,
|
||
Ashaat EA,
|
||
Patil SJ,
|
||
Dowsett L,
|
||
Eaton A,
|
||
Innes AM,
|
||
Shotelersuk V,
|
||
Badoe Ë,
|
||
Wonkam A,
|
||
Obregon MG,
|
||
Chung BHY,
|
||
Trubnykova M,
|
||
La Serna J,
|
||
Gallardo Jugo BE,
|
||
Chávez Pastor M,
|
||
Abarca Barriga HH,
|
||
Megarbane A,
|
||
Kozel BA,
|
||
van Haelst MM,
|
||
Stevenson RE,
|
||
Summar M,
|
||
Adeyemo AA,
|
||
Morris CA,
|
||
Moretti-Ferreira D,
|
||
Linguraru MG,
|
||
Muenke M</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2018 May;176(5):1128-1136.
|
||
doi: 10.1002/ajmg.a.38672.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29681090" target="_blank">29681090</a><a href="/pmc/articles/PMC6007881" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19839889">Malignant lymphoproliferative disorders extending into the orbit from the paranasal sinuses.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Peleg A,
|
||
Heran MK,
|
||
White VA,
|
||
Chang WY,
|
||
Rootman J</span><br />
|
||
<span class="medgenPMjournal">Orbit</span>
|
||
2009;28(2-3):80-7.
|
||
doi: 10.1080/01676830802656869.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19839889" target="_blank">19839889</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16481892">Quantitative dysmorphology assessment in Fabry disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ries M,
|
||
Moore DF,
|
||
Robinson CJ,
|
||
Tifft CJ,
|
||
Rosenbaum KN,
|
||
Brady RO,
|
||
Schiffmann R,
|
||
Krasnewich D</span><br />
|
||
<span class="medgenPMjournal">Genet Med</span>
|
||
2006 Feb;8(2):96-101.
|
||
doi: 10.1097/01.gim.0000200950.25118.dd.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16481892" target="_blank">16481892</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/14967851">Williams-Beuren syndrome in the Hong Kong Chinese population: retrospective study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yau EK,
|
||
Lo IF,
|
||
Lam ST</span><br />
|
||
<span class="medgenPMjournal">Hong Kong Med J</span>
|
||
2004 Feb;10(1):22-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/14967851" target="_blank">14967851</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Periorbital%20fullness%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 (4)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39038875">Williams-Beuren syndrome diagnosis in an infant with atypical chromosome 7 microdeletion.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Olowu AA</span><br />
|
||
<span class="medgenPMjournal">BMJ Case Rep</span>
|
||
2024 Jul 22;17(7)
|
||
doi: 10.1136/bcr-2024-260312.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39038875" target="_blank">39038875</a><a href="/pmc/articles/PMC11429255" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29681090">Williams-Beuren syndrome in diverse populations.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kruszka P,
|
||
Porras AR,
|
||
de Souza DH,
|
||
Moresco A,
|
||
Huckstadt V,
|
||
Gill AD,
|
||
Boyle AP,
|
||
Hu T,
|
||
Addissie YA,
|
||
Mok GTK,
|
||
Tekendo-Ngongang C,
|
||
Fieggen K,
|
||
Prijoles EJ,
|
||
Tanpaiboon P,
|
||
Honey E,
|
||
Luk HM,
|
||
Lo IFM,
|
||
Thong MK,
|
||
Muthukumarasamy P,
|
||
Jones KL,
|
||
Belhassan K,
|
||
Ouldim K,
|
||
El Bouchikhi I,
|
||
Bouguenouch L,
|
||
Shukla A,
|
||
Girisha KM,
|
||
Sirisena ND,
|
||
Dissanayake VHW,
|
||
Paththinige CS,
|
||
Mishra R,
|
||
Kisling MS,
|
||
Ferreira CR,
|
||
de Herreros MB,
|
||
Lee NC,
|
||
Jamuar SS,
|
||
Lai A,
|
||
Tan ES,
|
||
Ying Lim J,
|
||
Wen-Min CB,
|
||
Gupta N,
|
||
Lotz-Esquivel S,
|
||
Badilla-Porras R,
|
||
Hussen DF,
|
||
El Ruby MO,
|
||
Ashaat EA,
|
||
Patil SJ,
|
||
Dowsett L,
|
||
Eaton A,
|
||
Innes AM,
|
||
Shotelersuk V,
|
||
Badoe Ë,
|
||
Wonkam A,
|
||
Obregon MG,
|
||
Chung BHY,
|
||
Trubnykova M,
|
||
La Serna J,
|
||
Gallardo Jugo BE,
|
||
Chávez Pastor M,
|
||
Abarca Barriga HH,
|
||
Megarbane A,
|
||
Kozel BA,
|
||
van Haelst MM,
|
||
Stevenson RE,
|
||
Summar M,
|
||
Adeyemo AA,
|
||
Morris CA,
|
||
Moretti-Ferreira D,
|
||
Linguraru MG,
|
||
Muenke M</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2018 May;176(5):1128-1136.
|
||
doi: 10.1002/ajmg.a.38672.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29681090" target="_blank">29681090</a><a href="/pmc/articles/PMC6007881" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23719198">Orbital vicarious menstruation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dua P,
|
||
Pointdujour R,
|
||
Reich I,
|
||
Lazzaro DR,
|
||
Shinder R</span><br />
|
||
<span class="medgenPMjournal">Ophthalmic Plast Reconstr Surg</span>
|
||
2014 Mar-Apr;30(2):e35-7.
|
||
doi: 10.1097/IOP.0b013e3182937527.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23719198" target="_blank">23719198</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/14967851">Williams-Beuren syndrome in the Hong Kong Chinese population: retrospective study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yau EK,
|
||
Lo IF,
|
||
Lam ST</span><br />
|
||
<span class="medgenPMjournal">Hong Kong Med J</span>
|
||
2004 Feb;10(1):22-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/14967851" target="_blank">14967851</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/1484498">Ophthalmologic manifestations of type B Niemann-Pick diseases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Filling-Katz MR,
|
||
Fink JK,
|
||
Gorin MB,
|
||
Caruso R,
|
||
Carl JB,
|
||
Fitzgibbon EJ,
|
||
Barton NW,
|
||
Katz NN</span><br />
|
||
<span class="medgenPMjournal">Metab Pediatr Syst Ophthalmol (1985)</span>
|
||
1992;15(1-3):16-20.
|
||
<span class="bold">PMID: </span><a href="/pubmed/1484498" target="_blank">1484498</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Periorbital%20fullness%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 (15)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/33995773">Orbital inflammatory disease secondary to epidemic keratoconjunctivitis in an adult patient: case report.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Abikoye TM</span><br />
|
||
<span class="medgenPMjournal">Pan Afr Med J</span>
|
||
2021;38:166.
|
||
Epub 2021 Feb 12
|
||
doi: 10.11604/pamj.2021.38.166.27121.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33995773" target="_blank">33995773</a><a href="/pmc/articles/PMC8077649" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23719198">Orbital vicarious menstruation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dua P,
|
||
Pointdujour R,
|
||
Reich I,
|
||
Lazzaro DR,
|
||
Shinder R</span><br />
|
||
<span class="medgenPMjournal">Ophthalmic Plast Reconstr Surg</span>
|
||
2014 Mar-Apr;30(2):e35-7.
|
||
doi: 10.1097/IOP.0b013e3182937527.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23719198" target="_blank">23719198</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19839889">Malignant lymphoproliferative disorders extending into the orbit from the paranasal sinuses.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Peleg A,
|
||
Heran MK,
|
||
White VA,
|
||
Chang WY,
|
||
Rootman J</span><br />
|
||
<span class="medgenPMjournal">Orbit</span>
|
||
2009;28(2-3):80-7.
|
||
doi: 10.1080/01676830802656869.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19839889" target="_blank">19839889</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Periorbital%20fullness%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 (3)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/33995773">Orbital inflammatory disease secondary to epidemic keratoconjunctivitis in an adult patient: case report.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Abikoye TM</span><br />
|
||
<span class="medgenPMjournal">Pan Afr Med J</span>
|
||
2021;38:166.
|
||
Epub 2021 Feb 12
|
||
doi: 10.11604/pamj.2021.38.166.27121.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33995773" target="_blank">33995773</a><a href="/pmc/articles/PMC8077649" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19839889">Malignant lymphoproliferative disorders extending into the orbit from the paranasal sinuses.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Peleg A,
|
||
Heran MK,
|
||
White VA,
|
||
Chang WY,
|
||
Rootman J</span><br />
|
||
<span class="medgenPMjournal">Orbit</span>
|
||
2009;28(2-3):80-7.
|
||
doi: 10.1080/01676830802656869.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19839889" target="_blank">19839889</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/14967851">Williams-Beuren syndrome in the Hong Kong Chinese population: retrospective study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yau EK,
|
||
Lo IF,
|
||
Lam ST</span><br />
|
||
<span class="medgenPMjournal">Hong Kong Med J</span>
|
||
2004 Feb;10(1):22-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/14967851" target="_blank">14967851</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9017917">The Williams syndrome: an Italian collaborative study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Franceschini P,
|
||
Guala A,
|
||
Vardeu MP,
|
||
Signorile F,
|
||
Franceschini D,
|
||
Mastroiacovo P,
|
||
Gianotti A,
|
||
Livini E,
|
||
Lalatta F,
|
||
Selicorni A,
|
||
Andria G,
|
||
Scarano G,
|
||
Della Monica M,
|
||
Rizzo R,
|
||
Zelante L,
|
||
Stabile M,
|
||
Gabrielli O,
|
||
Neri G</span><br />
|
||
<span class="medgenPMjournal">Minerva Pediatr</span>
|
||
1996 Oct;48(10):421-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9017917" target="_blank">9017917</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Periorbital%20fullness%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 (4)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/22438093">The face in congenital melanocytic nevus syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kinsler V,
|
||
Shaw AC,
|
||
Merks JH,
|
||
Hennekam RC</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2012 May;158A(5):1014-9.
|
||
Epub 2012 Mar 21
|
||
doi: 10.1002/ajmg.a.34217.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22438093" target="_blank">22438093</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20662849">Microduplication of Xp11.23p11.3 with effects on cognition, behavior, and craniofacial development.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">El-Hattab AW,
|
||
Bournat J,
|
||
Eng PA,
|
||
Wu JB,
|
||
Walker BA,
|
||
Stankiewicz P,
|
||
Cheung SW,
|
||
Brown CW</span><br />
|
||
<span class="medgenPMjournal">Clin Genet</span>
|
||
2011 Jun;79(6):531-8.
|
||
doi: 10.1111/j.1399-0004.2010.01496.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20662849" target="_blank">20662849</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16481892">Quantitative dysmorphology assessment in Fabry disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ries M,
|
||
Moore DF,
|
||
Robinson CJ,
|
||
Tifft CJ,
|
||
Rosenbaum KN,
|
||
Brady RO,
|
||
Schiffmann R,
|
||
Krasnewich D</span><br />
|
||
<span class="medgenPMjournal">Genet Med</span>
|
||
2006 Feb;8(2):96-101.
|
||
doi: 10.1097/01.gim.0000200950.25118.dd.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16481892" target="_blank">16481892</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Periorbital%20fullness%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 (3)</a></div></div>
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|
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