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<script type="text/javascript" src="/corehtml/pmc/jatsreader/ptpmc_3.22/js/jr.boots.min.js"> </script><title>Strømme Syndrome - GeneReviews® - NCBI Bookshelf</title>
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<meta name="citation_inbook_title" content="GeneReviews® [Internet]">
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<meta name="citation_title" content="Strømme Syndrome">
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<meta name="citation_publisher" content="University of Washington, Seattle">
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<meta name="citation_date" content="2022/11/10">
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<meta name="citation_author" content="Stephanie KL Ho">
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<meta name="citation_author" content="Lai Ting Leung">
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<meta name="citation_author" content="Ho-ming Luk">
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<meta name="citation_author" content="Ivan FM Lo">
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<meta name="citation_fulltext_html_url" content="https://www.ncbi.nlm.nih.gov/books/NBK586170/">
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<meta name="citation_keywords" content="Apple Peel Syndrome with Microcephaly and Ocular Anomalies">
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<meta name="citation_keywords" content="Jejunal Atresia with Microcephaly and Ocular Anomalies">
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<meta name="citation_keywords" content="Apple Peel Syndrome with Microcephaly and Ocular Anomalies">
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<meta name="citation_keywords" content="Jejunal Atresia with Microcephaly and Ocular Anomalies">
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<meta name="citation_keywords" content="Centromere protein F">
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<meta name="citation_keywords" content="CENPF">
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<meta name="citation_keywords" content="Strømme Syndrome">
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<meta name="DC.Title" content="Strømme Syndrome">
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<meta name="DC.Publisher" content="University of Washington, Seattle">
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<meta name="DC.Contributor" content="Stephanie KL Ho">
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<meta name="DC.Contributor" content="Lai Ting Leung">
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<meta name="DC.Contributor" content="Ho-ming Luk">
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<meta name="DC.Contributor" content="Ivan FM Lo">
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<meta name="DC.Date" content="2022/11/10">
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<meta name="description" content="Strømme syndrome is a clinically variable disorder characterized primarily by small bowel intestinal atresia (including apple peel intestinal atresia), microcephaly, developmental delay and/or intellectual disability, structural brain anomalies, and ocular, genitourinary, and cardiac anomalies. A highly variable clinical presentation is observed among affected individuals that may range from mid-gestation lethality, to multisystem involvement with features implicated in the ciliopathies, to nonsyndromic microcephaly with developmental delay. Apple peel intestinal atresia, a rare form of small bowel atresia involving the proximal jejunum near the ligament of Treitz, occurs in some individuals. Intestinal atresia in individuals with Strømme syndrome can involve the duodenum, jejunum, or multiple segments.">
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<meta name="og:title" content="Strømme Syndrome">
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<meta name="og:description" content="Strømme syndrome is a clinically variable disorder characterized primarily by small bowel intestinal atresia (including apple peel intestinal atresia), microcephaly, developmental delay and/or intellectual disability, structural brain anomalies, and ocular, genitourinary, and cardiac anomalies. A highly variable clinical presentation is observed among affected individuals that may range from mid-gestation lethality, to multisystem involvement with features implicated in the ciliopathies, to nonsyndromic microcephaly with developmental delay. Apple peel intestinal atresia, a rare form of small bowel atresia involving the proximal jejunum near the ligament of Treitz, occurs in some individuals. Intestinal atresia in individuals with Strømme syndrome can involve the duodenum, jejunum, or multiple segments.">
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class="wsprkl btn" title="Jump to next match">▶</a></nav></nav></div><div id="jr-epub-interstitial" class="hidden"></div><div id="jr-content"><article data-type="main"><div class="main-content lit-style" itemscope="itemscope" itemtype="http://schema.org/CreativeWork"><div class="meta-content fm-sec"><div class="fm-sec"><h1 id="_NBK586170_"><span class="title" itemprop="name">Strømme Syndrome</span></h1><div itemprop="alternativeHeadline" class="subtitle whole_rhythm">Synonyms: Apple Peel Syndrome with Microcephaly and Ocular Anomalies, Jejunal Atresia with Microcephaly and Ocular Anomalies</div><p class="contribs">Ho SKL, Leung LT, Luk H, et al.</p><p class="fm-aai"><a href="#_NBK586170_pubdet_">Publication Details</a></p><p><em>Estimated reading time: 19 minutes</em></p></div></div><div class="jig-ncbiinpagenav body-content whole_rhythm" data-jigconfig="allHeadingLevels: ['h2'],smoothScroll: false" itemprop="text"><div id="stromme.Summary" itemprop="description"><h2 id="_stromme_Summary_">Summary</h2><div><h4 class="inline">Clinical characteristics.</h4><p>Strømme syndrome is a clinically variable disorder characterized primarily by small bowel intestinal atresia (including apple peel intestinal atresia), microcephaly, developmental delay and/or intellectual disability, structural brain anomalies, and ocular, genitourinary, and cardiac anomalies. A highly variable clinical presentation is observed among affected individuals that may range from mid-gestation lethality, to multisystem involvement with features implicated in the ciliopathies, to nonsyndromic microcephaly with developmental delay. Apple peel intestinal atresia, a rare form of small bowel atresia involving the proximal jejunum near the ligament of Treitz, occurs in some individuals. Intestinal atresia in individuals with Strømme syndrome can involve the duodenum, jejunum, or multiple segments.</p></div><div><h4 class="inline">Diagnosis/testing.</h4><p>The diagnosis of Strømme syndrome is established in a proband with characteristic features and biallelic <i>CENPF</i> pathogenic variants identified by molecular genetic testing.</p></div><div><h4 class="inline">Management.</h4><p><i>Treatment:</i> Individualized care by a multidisciplinary team; surgical treatment of gastrointestinal atresia; developmental and educational support; standard treatment for ocular anomalies, vision issues, renal anomalies, and cardiac anomalies; social work involvement and care coordination as needed.</p><p><i>Surveillance:</i> Assess growth, feeding, and development at each visit. Follow up for ophthalmologic manifestations and vision issues as recommended by ophthalmologist and low-vision clinic.</p></div><div><h4 class="inline">Genetic counseling.</h4><p>Strømme syndrome is inherited in an autosomal recessive manner. If both parents are known to be heterozygous for a <i>CENPF</i> pathogenic variant, each sib of an affected individual has at conception a 25% chance of being affected, a 50% chance of being an asymptomatic carrier, and a 25% chance of being unaffected and not a carrier. Once the <i>CENPF</i> pathogenic variants have been identified in an affected family member, carrier testing for at-risk relatives and prenatal/preimplantation genetic testing are possible.</p></div></div><div id="stromme.Diagnosis"><h2 id="_stromme_Diagnosis_">Diagnosis</h2><p>No consensus clinical diagnostic criteria for Strømme syndrome have been published.</p><div id="stromme.Suggestive_Findings"><h3>Suggestive Findings</h3><p>Strømme syndrome <b>should be suspected</b> in individuals with the following clinical, imaging, and family history findings.</p><p>
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<b>Clinical findings</b>
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</p><ul><li class="half_rhythm"><div>Small bowel intestinal atresia, in particular apple peel intestinal atresia</div></li><li class="half_rhythm"><div>Microcephaly</div></li><li class="half_rhythm"><div>Mild-to-moderate developmental delay and/or intellectual disability</div></li><li class="half_rhythm"><div>Various ocular anomalies including anterior segment anomalies and microphthalmia</div></li><li class="half_rhythm"><div>Genitourinary anomalies including hypoplastic kidney, horseshoe kidney, hydroureteronephrosis, and/or cryptorchidism</div></li></ul><p>
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<b>Imaging findings</b>
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</p><ul><li class="half_rhythm"><div>Brain MRI may reveal corpus callosum agenesis, hydrocephalus, pachygyria, lissencephaly, holoprosencephaly, cerebral and cerebellar hypoplasia.</div></li><li class="half_rhythm"><div>Abdominal imaging findings may include hypoplastic kidney, horseshoe kidney, hydroureteronephrosis, and/or accessory spleen.</div></li></ul><p><b>Family history</b> is consistent with autosomal recessive inheritance (e.g., affected sibs and/or parental consanguinity). Absence of a known family history does not preclude the diagnosis.</p></div><div id="stromme.Establishing_the_Diagnosis"><h3>Establishing the Diagnosis</h3><p>The diagnosis of Strømme syndrome <b>is established</b> in a proband with <a href="#stromme.Suggestive_Findings">suggestive findings</a> and biallelic pathogenic (or likely pathogenic) variants in <i>CENPF</i> identified by molecular genetic testing (see <a href="/books/NBK586170/table/stromme.T.molecular_genetic_testing_used/?report=objectonly" target="object" rid-ob="figobstrommeTmoleculargenetictestingused">Table 1</a>).</p><p>Note: (1) Per ACMG/AMP variant interpretation guidelines, the terms "pathogenic variants" and "likely pathogenic variants" are synonymous in a clinical setting, meaning that both are considered diagnostic, and both can be used for clinical decision making [<a class="bibr" href="#stromme.REF.richards.2015.405" rid="stromme.REF.richards.2015.405">Richards et al 2015</a>]. Reference to "pathogenic variants" in this section is understood to include any likely pathogenic variants. (2) Identification of biallelic <i>CENPF</i> variants of uncertain significance (or of one known <i>CENPF</i> pathogenic variant and one <i>CENPF</i> variant of uncertain significance) does not establish or rule out the diagnosis.</p><p>Molecular genetic testing approaches can include a combination of <b>gene-targeted testing</b> (single-gene testing, multigene panel) and <b>comprehensive</b>
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<b>genomic testing</b> (exome sequencing, genome sequencing) depending on the phenotype.</p><p>Gene-targeted testing requires that the clinician determine which gene(s) are likely involved, whereas genomic testing does not. Individuals with the distinctive findings described in <a href="#stromme.Suggestive_Findings">Suggestive Findings</a> are likely to be diagnosed using gene-targeted testing (see <a href="#stromme.Option_1">Option 1</a>), whereas those with a phenotype indistinguishable from many other inherited disorders with microcephaly and/or intellectual disability are more likely to be diagnosed using genomic testing (see <a href="#stromme.Option_2">Option 2</a>).</p><div id="stromme.Option_1"><h4>Option 1</h4><p><b>Single-gene testing.</b> Sequence analysis of <i>CENPF</i> is performed first to detect small intragenic deletions/insertions and missense, nonsense, and splice site variants. Note: Depending on the sequencing method used, single-exon, multiexon, or whole-gene deletions/duplications may not be detected. If only one or no variant is detected by the sequencing method used, the next step is to perform gene-targeted deletion/duplication analysis to detect exon and whole-gene deletions or duplications.</p><p><b>A ciliopathies multigene panel</b> that includes <i>CENPF</i> and other genes of interest (see <a href="#stromme.Differential_Diagnosis">Differential Diagnosis</a>) is most likely to identify the genetic cause of the condition while limiting identification of variants of uncertain significance and pathogenic variants in genes that do not explain the underlying phenotype. Note: (1) The genes included in the panel and the diagnostic sensitivity of the testing used for each gene vary by laboratory and are likely to change over time. (2) Some multigene panels may include genes not associated with the condition discussed in this <i>GeneReview</i>. (3) In some laboratories, panel options may include a custom laboratory-designed panel and/or custom phenotype-focused exome analysis that includes genes specified by the clinician. (4) Methods used in a panel may include sequence analysis, deletion/duplication analysis, and/or other non-sequencing-based tests.</p><p>For an introduction to multigene panels click <a href="/books/n/gene/app5/?report=reader#app5.Multigene_Panels">here</a>. More detailed information for clinicians ordering genetic tests can be found <a href="/books/n/gene/app5/?report=reader#app5.Multigene_Panels_FAQs">here</a>.</p></div><div id="stromme.Option_2"><h4>Option 2</h4><p><b>Comprehensive</b>
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<b>genomic testing</b> does not require the clinician to determine which gene is likely involved. <b>Exome sequencing</b> is most commonly used; <b>genome sequencing</b> is also possible.</p><p>For an introduction to comprehensive genomic testing click <a href="/books/n/gene/app5/?report=reader#app5.Comprehensive_Genomic_Testing">here</a>. More detailed information for clinicians ordering genomic testing can be found <a href="/books/n/gene/app5/?report=reader#app5.Comprehensive_Genomic_Testing_1">here</a>.</p><div class="iconblock whole_rhythm clearfix ten_col table-wrap" id="figstrommeTmoleculargenetictestingused"><a href="/books/NBK586170/table/stromme.T.molecular_genetic_testing_used/?report=objectonly" target="object" title="Table 1. " class="img_link icnblk_img" rid-ob="figobstrommeTmoleculargenetictestingused"><img class="small-thumb" src="/corehtml/pmc/css/bookshelf/2.26/img/table-icon.gif" alt="Table Icon" /></a><div class="icnblk_cntnt"><h4 id="stromme.T.molecular_genetic_testing_used"><a href="/books/NBK586170/table/stromme.T.molecular_genetic_testing_used/?report=objectonly" target="object" rid-ob="figobstrommeTmoleculargenetictestingused">Table 1. </a></h4><p class="float-caption no_bottom_margin">Molecular Genetic Testing Used in Strømme Syndrome </p></div></div></div></div></div><div id="stromme.Clinical_Characteristics"><h2 id="_stromme_Clinical_Characteristics_">Clinical Characteristics</h2><div id="stromme.Clinical_Description"><h3>Clinical Description</h3><p>Initially believed to be pathognomonic of Strømme syndrome, small intestine atresia is now considered a distinctive but nonobligatory feature. A highly variable clinical presentation is observed among affected individuals that may range from mid-gestation lethality, to multisystem involvement with features implicated in the ciliopathies, to nonsyndromic microcephaly with developmental delay.</p><p>To date, at least 26 individuals have been identified with pathogenic variants in <i>CENPF</i> [<a class="bibr" href="#stromme.REF.waters.2015.147" rid="stromme.REF.waters.2015.147">Waters et al 2015</a>, <a class="bibr" href="#stromme.REF.filges.2016.711" rid="stromme.REF.filges.2016.711">Filges et al 2016</a>, <a class="bibr" href="#stromme.REF.ozkinay.2017.1668" rid="stromme.REF.ozkinay.2017.1668">Ozkinay et al 2017</a>, <a class="bibr" href="#stromme.REF.aldewik.2019.927" rid="stromme.REF.aldewik.2019.927">Al-Dewik et al 2019</a>, <a class="bibr" href="#stromme.REF.kahrizi.2019.151" rid="stromme.REF.kahrizi.2019.151">Kahrizi et al 2019</a>, <a class="bibr" href="#stromme.REF.maddirevula.2019.736" rid="stromme.REF.maddirevula.2019.736">Maddirevula et al 2019</a>, <a class="bibr" href="#stromme.REF.monies.2019.879" rid="stromme.REF.monies.2019.879">Monies et al 2019</a>, <a class="bibr" href="#stromme.REF.palombo.2020.1429" rid="stromme.REF.palombo.2020.1429">Palombo et al 2020</a>, <a class="bibr" href="#stromme.REF.alghamdi.2020.103844" rid="stromme.REF.alghamdi.2020.103844">Alghamdi et al 2020</a>, <a class="bibr" href="#stromme.REF.caridi.2020.439" rid="stromme.REF.caridi.2020.439">Caridi et al 2020</a>, <a class="bibr" href="#stromme.REF.alhamed.2022.101" rid="stromme.REF.alhamed.2022.101">Al-Hamed et al 2022</a>, <a class="bibr" href="#stromme.REF.blue.2022.1" rid="stromme.REF.blue.2022.1">Blue et al 2022</a>, <a class="bibr" href="#stromme.REF.cappuccio.2022.102" rid="stromme.REF.cappuccio.2022.102">Cappuccio et al 2022</a>, <a class="bibr" href="#stromme.REF.ho.2022.1626" rid="stromme.REF.ho.2022.1626">Ho et al 2022</a>]. The following description of the phenotypic features associated with Strømme syndrome is based on 25 individuals with clinical descriptions from these reports.</p><div class="iconblock whole_rhythm clearfix ten_col table-wrap" id="figstrommeTstrmmesyndromefrequencyof"><a href="/books/NBK586170/table/stromme.T.str_mme_syndrome_frequency_of/?report=objectonly" target="object" title="Table 2. " class="img_link icnblk_img" rid-ob="figobstrommeTstrmmesyndromefrequencyof"><img class="small-thumb" src="/corehtml/pmc/css/bookshelf/2.26/img/table-icon.gif" alt="Table Icon" /></a><div class="icnblk_cntnt"><h4 id="stromme.T.str_mme_syndrome_frequency_of"><a href="/books/NBK586170/table/stromme.T.str_mme_syndrome_frequency_of/?report=objectonly" target="object" rid-ob="figobstrommeTstrmmesyndromefrequencyof">Table 2. </a></h4><p class="float-caption no_bottom_margin">Strømme Syndrome: Frequency of Select Features </p></div></div><div id="stromme.Gastrointestinal_Features"><h4>Gastrointestinal Features</h4><p><b>Small bowel atresia.</b> Duodenum is the most commonly involved region in Strømme syndrome-related small bowel atresia, although jejunal and ileal atresia have also been reported [<a class="bibr" href="#stromme.REF.waters.2015.147" rid="stromme.REF.waters.2015.147">Waters et al 2015</a>, <a class="bibr" href="#stromme.REF.filges.2016.711" rid="stromme.REF.filges.2016.711">Filges et al 2016</a>, <a class="bibr" href="#stromme.REF.ozkinay.2017.1668" rid="stromme.REF.ozkinay.2017.1668">Ozkinay et al 2017</a>, <a class="bibr" href="#stromme.REF.alghamdi.2020.103844" rid="stromme.REF.alghamdi.2020.103844">Alghamdi et al 2020</a>, <a class="bibr" href="#stromme.REF.caridi.2020.439" rid="stromme.REF.caridi.2020.439">Caridi et al 2020</a>, <a class="bibr" href="#stromme.REF.cappuccio.2022.102" rid="stromme.REF.cappuccio.2022.102">Cappuccio et al 2022</a>]. The majority of Strømme syndrome-related small bowel atresia are identified through abnormal antenatal ultrasound scans or in infants who presented with vomiting shortly after birth. As with nonsyndromic intestinal atresia, Strømme syndrome-related small bowel atresia is often accompanied by malrotation and premature delivery.</p><p><b>Apple peel intestinal atresia</b>, a rare form of small bowel atresia, is considered a highly specific but nonobligatory feature of Strømme syndrome. It is classically defined as atresia of the proximal jejunum near the ligament of Treitz that ends in a blind segment and a distal unused segment supplied by branches from the right colic or ileocolic artery and is associated with a mesenteric defect. The distal small bowel is wrapped around its blood supply in a spiral manner that resembles an apple peel configuration.</p><p>Apple peel intestinal atresia is managed by resection of the atretic segment with subsequent anastomosis. The underlying insecure vasculature and the need for bowel preservation have contributed to challenges in surgical treatment, unfavorable prognosis, and a higher risk of short bowel syndrome. Affected individuals may require prolonged total parental nutrition, which may be complicated by cholestasis, sepsis, and multisystem organ failure. Persistent malabsorption and poor weight gain after surgical intervention have been described in individuals with Strømme syndrome-related small bowel atresia [<a class="bibr" href="#stromme.REF.filges.2016.711" rid="stromme.REF.filges.2016.711">Filges et al 2016</a>].</p></div><div id="stromme.Ophthalmologic_Features"><h4>Ophthalmologic Features</h4><p><b>Anterior segment anomalies</b> including Peters anomaly, corneal opacity with or without lens adhesions, sclerocornea, atrophy of the iris villi, cornea-peripheral anterior synechiae, cataract, iris coloboma, microcornea, and irregular and dilated pupil have been reported in affected individuals [<a class="bibr" href="#stromme.REF.filges.2016.711" rid="stromme.REF.filges.2016.711">Filges et al 2016</a>, <a class="bibr" href="#stromme.REF.ozkinay.2017.1668" rid="stromme.REF.ozkinay.2017.1668">Ozkinay et al 2017</a>, <a class="bibr" href="#stromme.REF.caridi.2020.439" rid="stromme.REF.caridi.2020.439">Caridi et al 2020</a>, <a class="bibr" href="#stromme.REF.cappuccio.2022.102" rid="stromme.REF.cappuccio.2022.102">Cappuccio et al 2022</a>].</p><p><b>Other ophthalmologic features</b> including unilateral or bilateral microphthalmia and esotropia have also been reported in individuals with Strømme syndrome [<a class="bibr" href="#stromme.REF.filges.2016.711" rid="stromme.REF.filges.2016.711">Filges et al 2016</a>, <a class="bibr" href="#stromme.REF.ozkinay.2017.1668" rid="stromme.REF.ozkinay.2017.1668">Ozkinay et al 2017</a>, <a class="bibr" href="#stromme.REF.caridi.2020.439" rid="stromme.REF.caridi.2020.439">Caridi et al 2020</a>, <a class="bibr" href="#stromme.REF.ho.2022.1626" rid="stromme.REF.ho.2022.1626">Ho et al 2022</a>]. Abnormal visual evoked potential associated with excavation of the optic disc was reported in one individual [<a class="bibr" href="#stromme.REF.cappuccio.2022.102" rid="stromme.REF.cappuccio.2022.102">Cappuccio et al 2022</a>]. Unilateral poor vision and blindness were reported in three individuals [<a class="bibr" href="#stromme.REF.filges.2016.711" rid="stromme.REF.filges.2016.711">Filges et al 2016</a>, <a class="bibr" href="#stromme.REF.ho.2022.1626" rid="stromme.REF.ho.2022.1626">Ho et al 2022</a>].</p></div><div id="stromme.Neurodevelopmental_Features"><h4>Neurodevelopmental Features</h4><p><b>Developmental delay and/or intellectual disability</b> ranging from mild-to-moderate severity is frequently described in individuals with Strømme syndrome, although one adult with normal development and no learning difficulties has been reported [<a class="bibr" href="#stromme.REF.ho.2022.1626" rid="stromme.REF.ho.2022.1626">Ho et al 2022</a>]. In individuals in whom intelligence quotient testing was performed, scores have ranged from 40 to 83 [<a class="bibr" href="#stromme.REF.filges.2016.711" rid="stromme.REF.filges.2016.711">Filges et al 2016</a>, <a class="bibr" href="#stromme.REF.kahrizi.2019.151" rid="stromme.REF.kahrizi.2019.151">Kahrizi et al 2019</a>, <a class="bibr" href="#stromme.REF.alghamdi.2020.103844" rid="stromme.REF.alghamdi.2020.103844">Alghamdi et al 2020</a>, <a class="bibr" href="#stromme.REF.cappuccio.2022.102" rid="stromme.REF.cappuccio.2022.102">Cappuccio et al 2022</a>].</p><p><b>Neuroimaging</b> may reveal various structural anomalies including hydrocephalus, corpus callosum agenesis, pachygyria, lissencephaly, holoprosencephaly, and cerebral and cerebellar atrophy [<a class="bibr" href="#stromme.REF.waters.2015.147" rid="stromme.REF.waters.2015.147">Waters et al 2015</a>, <a class="bibr" href="#stromme.REF.ozkinay.2017.1668" rid="stromme.REF.ozkinay.2017.1668">Ozkinay et al 2017</a>, <a class="bibr" href="#stromme.REF.maddirevula.2019.736" rid="stromme.REF.maddirevula.2019.736">Maddirevula et al 2019</a>, <a class="bibr" href="#stromme.REF.caridi.2020.439" rid="stromme.REF.caridi.2020.439">Caridi et al 2020</a>, <a class="bibr" href="#stromme.REF.cappuccio.2022.102" rid="stromme.REF.cappuccio.2022.102">Cappuccio et al 2022</a>].</p><p><b>Microcephaly</b> (head circumference ≥2 SD below the mean for age and sex) is often detected antenatally or is present at birth.</p></div><div id="stromme.Genitourinary_Features"><h4>Genitourinary Features</h4><p>The renal phenotype observed in Strømme syndrome is highly variable. Structural renal anomalies reported include single kidney, hypoplastic kidneys, horseshoe kidneys, and hydroureteronephrosis [<a class="bibr" href="#stromme.REF.waters.2015.147" rid="stromme.REF.waters.2015.147">Waters et al 2015</a>, <a class="bibr" href="#stromme.REF.filges.2016.711" rid="stromme.REF.filges.2016.711">Filges et al 2016</a>, <a class="bibr" href="#stromme.REF.maddirevula.2019.736" rid="stromme.REF.maddirevula.2019.736">Maddirevula et al 2019</a>, <a class="bibr" href="#stromme.REF.cappuccio.2022.102" rid="stromme.REF.cappuccio.2022.102">Cappuccio et al 2022</a>]. End-stage kidney disease requiring dialysis and kidney transplant was reported in one affected individual [<a class="bibr" href="#stromme.REF.caridi.2020.439" rid="stromme.REF.caridi.2020.439">Caridi et al 2020</a>].</p><p>Undescended and retractile testis have been reported in affected individuals [<a class="bibr" href="#stromme.REF.maddirevula.2019.736" rid="stromme.REF.maddirevula.2019.736">Maddirevula et al 2019</a>, <a class="bibr" href="#stromme.REF.alghamdi.2020.103844" rid="stromme.REF.alghamdi.2020.103844">Alghamdi et al 2020</a>, <a class="bibr" href="#stromme.REF.cappuccio.2022.102" rid="stromme.REF.cappuccio.2022.102">Cappuccio et al 2022</a>].</p></div><div id="stromme.Other_Features"><h4>Other Features</h4><p><b>Growth.</b> The majority of affected individuals were born prematurely, which may be due to underlying intestinal atresia and polyhydramnios. Strømme syndrome-related small bowel atresia contributes to malabsorption and poor weight gain; however, individuals without intestinal atresia have also been reported to have poor weight gain [<a class="bibr" href="#stromme.REF.filges.2016.711" rid="stromme.REF.filges.2016.711">Filges et al 2016</a>, <a class="bibr" href="#stromme.REF.ozkinay.2017.1668" rid="stromme.REF.ozkinay.2017.1668">Ozkinay et al 2017</a>, <a class="bibr" href="#stromme.REF.cappuccio.2022.102" rid="stromme.REF.cappuccio.2022.102">Cappuccio et al 2022</a>].</p><p><b>Congenital heart disease</b> including atrial septal defect, ventricular septal defect, patent ductus arteriosus, bicuspid aortic valve, Ebstein-like tricuspid valvular dysplasia, and coarctation of aorta have been reported [<a class="bibr" href="#stromme.REF.filges.2016.711" rid="stromme.REF.filges.2016.711">Filges et al 2016</a>, <a class="bibr" href="#stromme.REF.ozkinay.2017.1668" rid="stromme.REF.ozkinay.2017.1668">Ozkinay et al 2017</a>, <a class="bibr" href="#stromme.REF.alghamdi.2020.103844" rid="stromme.REF.alghamdi.2020.103844">Alghamdi et al 2020</a>, <a class="bibr" href="#stromme.REF.cappuccio.2022.102" rid="stromme.REF.cappuccio.2022.102">Cappuccio et al 2022</a>].</p><p><b>Musculoskeletal anomalies.</b> Preaxial polydactyly, platyspondyly, and xiphoid cleft have been reported in affected individuals [<a class="bibr" href="#stromme.REF.filges.2016.711" rid="stromme.REF.filges.2016.711">Filges et al 2016</a>, <a class="bibr" href="#stromme.REF.ho.2022.1626" rid="stromme.REF.ho.2022.1626">Ho et al 2022</a>].</p><p><b>Dysmorphic craniofacial features</b> observed in Strømme syndrome are highly variable. Recurrently reported features include receding forehead, broad and high nasal root, anteverted nares, short palpebral fissure, deep-set eyes, wide mouth, micrognathia, facial asymmetry, and low-set and large ears [<a class="bibr" href="#stromme.REF.waters.2015.147" rid="stromme.REF.waters.2015.147">Waters et al 2015</a>, <a class="bibr" href="#stromme.REF.filges.2016.711" rid="stromme.REF.filges.2016.711">Filges et al 2016</a>, <a class="bibr" href="#stromme.REF.ozkinay.2017.1668" rid="stromme.REF.ozkinay.2017.1668">Ozkinay et al 2017</a>, <a class="bibr" href="#stromme.REF.maddirevula.2019.736" rid="stromme.REF.maddirevula.2019.736">Maddirevula et al 2019</a>, <a class="bibr" href="#stromme.REF.alghamdi.2020.103844" rid="stromme.REF.alghamdi.2020.103844">Alghamdi et al 2020</a>, <a class="bibr" href="#stromme.REF.caridi.2020.439" rid="stromme.REF.caridi.2020.439">Caridi et al 2020</a>, <a class="bibr" href="#stromme.REF.cappuccio.2022.102" rid="stromme.REF.cappuccio.2022.102">Cappuccio et al 2022</a>, <a class="bibr" href="#stromme.REF.ho.2022.1626" rid="stromme.REF.ho.2022.1626">Ho et al 2022</a>].</p><p><b>Accessory spleen</b> has been reported in two individuals [<a class="bibr" href="#stromme.REF.waters.2015.147" rid="stromme.REF.waters.2015.147">Waters et al 2015</a>, <a class="bibr" href="#stromme.REF.filges.2016.711" rid="stromme.REF.filges.2016.711">Filges et al 2016</a>].</p><p><b>Prognosis.</b> The prognosis for Strømme syndrome is highly variable, ranging from mid-gestation lethality to nonsyndromic developmental delay and microcephaly.</p></div></div><div id="stromme.GenotypePhenotype_Correlations"><h3>Genotype-Phenotype Correlations</h3><p>No genotype-phenotype correlations have been identified.</p></div><div id="stromme.Nomenclature"><h3>Nomenclature</h3><p>Strømme syndrome has also been referred to as primary ciliary dyskinesia 31 (CILD31).</p></div><div id="stromme.Prevalence"><h3>Prevalence</h3><p>Strømme syndrome is rare, and the exact prevalence is unknown. To date, at least 26 individuals with molecularly confirmed Strømme syndrome have been reported.</p></div></div><div id="stromme.Genetically_Related_Allelic_Diso"><h2 id="_stromme_Genetically_Related_Allelic_Diso_">Genetically Related (Allelic) Disorders</h2><p>No phenotypes other than those discussed in this <i>GeneReview</i> are known to be associated with germline pathogenic variants in <i>CENPF</i>.</p></div><div id="stromme.Differential_Diagnosis"><h2 id="_stromme_Differential_Diagnosis_">Differential Diagnosis</h2><p><b>Strømme syndrome.</b> Because Strømme syndrome is associated with a highly variable clinical presentation, phenotypic features are often not sufficient to diagnose the condition. All disorders that fall within the spectrum of ciliopathies should be considered in the differential diagnosis.</p><p><b>Intestinal atresia.</b> Syndromes of interest in the differential diagnosis of intestinal atresia are summarized in <a href="/books/NBK586170/table/stromme.T.genes_of_interest_in_the_diffe/?report=objectonly" target="object" rid-ob="figobstrommeTgenesofinterestinthediffe">Table 3</a>.</p><div class="iconblock whole_rhythm clearfix ten_col table-wrap" id="figstrommeTgenesofinterestinthediffe"><a href="/books/NBK586170/table/stromme.T.genes_of_interest_in_the_diffe/?report=objectonly" target="object" title="Table 3. " class="img_link icnblk_img" rid-ob="figobstrommeTgenesofinterestinthediffe"><img class="small-thumb" src="/corehtml/pmc/css/bookshelf/2.26/img/table-icon.gif" alt="Table Icon" /></a><div class="icnblk_cntnt"><h4 id="stromme.T.genes_of_interest_in_the_diffe"><a href="/books/NBK586170/table/stromme.T.genes_of_interest_in_the_diffe/?report=objectonly" target="object" rid-ob="figobstrommeTgenesofinterestinthediffe">Table 3. </a></h4><p class="float-caption no_bottom_margin">Genes of Interest in the Differential Diagnosis of Intestinal Atresia </p></div></div></div><div id="stromme.Management"><h2 id="_stromme_Management_">Management</h2><p>No clinical practice guidelines for Strømme syndrome have been published.</p><div id="stromme.Evaluations_Following_Initial_Di"><h3>Evaluations Following Initial Diagnosis</h3><p>To establish the extent of disease and needs in an individual diagnosed with Strømme syndrome, the evaluations summarized in <a href="/books/NBK586170/table/stromme.T.recommended_evaluations_follow/?report=objectonly" target="object" rid-ob="figobstrommeTrecommendedevaluationsfollow">Table 4</a> (if not performed as part of the evaluation that led to the diagnosis) are recommended.</p><div class="iconblock whole_rhythm clearfix ten_col table-wrap" id="figstrommeTrecommendedevaluationsfollow"><a href="/books/NBK586170/table/stromme.T.recommended_evaluations_follow/?report=objectonly" target="object" title="Table 4. " class="img_link icnblk_img" rid-ob="figobstrommeTrecommendedevaluationsfollow"><img class="small-thumb" src="/corehtml/pmc/css/bookshelf/2.26/img/table-icon.gif" alt="Table Icon" /></a><div class="icnblk_cntnt"><h4 id="stromme.T.recommended_evaluations_follow"><a href="/books/NBK586170/table/stromme.T.recommended_evaluations_follow/?report=objectonly" target="object" rid-ob="figobstrommeTrecommendedevaluationsfollow">Table 4. </a></h4><p class="float-caption no_bottom_margin">Recommended Evaluations Following Initial Diagnosis in Individuals with Strømme Syndrome </p></div></div></div><div id="stromme.Treatment_of_Manifestations"><h3>Treatment of Manifestations</h3><p>Supportive care to improve quality of life, maximize function, and reduce complications is recommended. This can include multidisciplinary care by specialists in neurology, speech-language pathology, occupational therapy, physical therapy, feeding, ophthalmology, surgery, nephrology, developmental pediatrics, and clinical genetics (see <a href="/books/NBK586170/table/stromme.T.treatment_of_manifestations_in/?report=objectonly" target="object" rid-ob="figobstrommeTtreatmentofmanifestationsin">Table 5</a>).</p><div class="iconblock whole_rhythm clearfix ten_col table-wrap" id="figstrommeTtreatmentofmanifestationsin"><a href="/books/NBK586170/table/stromme.T.treatment_of_manifestations_in/?report=objectonly" target="object" title="Table 5. " class="img_link icnblk_img" rid-ob="figobstrommeTtreatmentofmanifestationsin"><img class="small-thumb" src="/corehtml/pmc/css/bookshelf/2.26/img/table-icon.gif" alt="Table Icon" /></a><div class="icnblk_cntnt"><h4 id="stromme.T.treatment_of_manifestations_in"><a href="/books/NBK586170/table/stromme.T.treatment_of_manifestations_in/?report=objectonly" target="object" rid-ob="figobstrommeTtreatmentofmanifestationsin">Table 5. </a></h4><p class="float-caption no_bottom_margin">Treatment of Manifestations in Individuals with Strømme Syndrome </p></div></div><div id="stromme.Developmental_Delay__Intellectua"><h4>Developmental Delay / Intellectual Disability Management Issues</h4><p>The following information represents typical management recommendations for individuals with developmental delay / intellectual disability in the United States; standard recommendations may vary from country to country.</p><p><b>Ages 0-3 years.</b> Referral to an early intervention program is recommended for access to occupational, physical, speech, and feeding therapy as well as infant mental health services, special educators, and sensory impairment specialists. In the US, early intervention is a federally funded program available in all states that provides in-home services to target individual therapy needs.</p><p><b>Ages 3-5 years.</b> In the US, developmental preschool through the local public school district is recommended. Before placement, an evaluation is made to determine needed services and therapies and an individualized education plan (IEP) is developed for those who qualify based on established motor, language, social, or cognitive delay. The early intervention program typically assists with this transition. Developmental preschool is center based; for children too medically unstable to attend, home-based services are provided.</p><p><b>All ages.</b> Consultation with a developmental pediatrician is recommended to ensure the involvement of appropriate community, state, and educational agencies (US) and to support parents in maximizing quality of life. Some issues to consider:</p><ul><li class="half_rhythm"><div>IEP services:</div><ul><li class="half_rhythm"><div>An IEP provides specially designed instruction and related services to children who qualify.</div></li><li class="half_rhythm"><div>IEP services will be reviewed annually to determine whether any changes are needed.</div></li><li class="half_rhythm"><div>Special education law requires that children participating in an IEP be in the least restrictive environment feasible at school and included in general education as much as possible, when and where appropriate.</div></li><li class="half_rhythm"><div>Vision consultants should be a part of the child's IEP team to support access to academic material.</div></li><li class="half_rhythm"><div>PT, OT, and speech services will be provided in the IEP to the extent that the need affects the child's access to academic material. Beyond that, private supportive therapies based on the affected individual's needs may be considered. Specific recommendations regarding type of therapy can be made by a developmental pediatrician.</div></li><li class="half_rhythm"><div>As a child enters the teen years, a transition plan should be discussed and incorporated in the IEP. For those receiving IEP services, the public school district is required to provide services until age 21.</div></li></ul></li><li class="half_rhythm"><div>A 504 plan (Section 504: a US federal statute that prohibits discrimination based on disability) can be considered for those who require accommodations or modifications such as front-of-class seating, assistive technology devices, classroom scribes, extra time between classes, modified assignments, and enlarged text.</div></li><li class="half_rhythm"><div>Developmental Disabilities Administration (DDA) enrollment is recommended. DDA is a US public agency that provides services and support to qualified individuals. Eligibility differs by state but is typically determined by diagnosis and/or associated cognitive/adaptive disabilities.</div></li><li class="half_rhythm"><div>Families with limited income and resources may also qualify for supplemental security income (SSI) for their child with a disability.</div></li></ul></div><div id="stromme.Motor_Dysfunction"><h4>Motor Dysfunction</h4><p>
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<b>Gross motor dysfunction</b>
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</p><ul><li class="half_rhythm"><div>Physical therapy is recommended to maximize mobility and to reduce the risk for later-onset orthopedic complications (e.g., contractures, scoliosis, hip dislocation).</div></li><li class="half_rhythm"><div>Consider use of durable medical equipment and positioning devices as needed (e.g., wheelchairs, walkers, bath chairs, orthotics, adaptive strollers).</div></li><li class="half_rhythm"><div>For muscle tone abnormalities including hypertonia or dystonia, consider involving appropriate specialists to aid in management of baclofen, tizanidine, Botox<sup>®</sup>, anti-parkinsonian medications, or orthopedic procedures.</div></li></ul><p><b>Fine motor dysfunction.</b> Occupational therapy is recommended for difficulty with fine motor skills that affect adaptive function such as feeding, grooming, dressing, and writing.</p><p><b>Oral motor dysfunction</b> should be assessed at each visit and clinical feeding evaluations and/or radiographic swallowing studies should be obtained for choking/gagging during feeds, poor weight gain, frequent respiratory illnesses, or feeding refusal that is not otherwise explained. Assuming that the child is safe to eat by mouth, feeding therapy (typically from an occupational or speech therapist) is recommended to help improve coordination or sensory-related feeding issues. Feeds can be thickened or chilled for safety. When feeding dysfunction is severe, an NG-tube or G-tube may be necessary.</p><p><b>Communication issues.</b> Consider evaluation for alternative means of communication (e.g., <a href="https://www.asha.org/NJC/AAC/" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">augmentative and alternative communication [</a>AAC]) for individuals who have expressive language difficulties. An AAC evaluation can be completed by a speech-language pathologist who has expertise in the area. The evaluation will consider cognitive abilities and sensory impairments to determine the most appropriate form of communication. AAC devices can range from low-tech, such as picture exchange communication, to high-tech, such as voice-generating devices. Contrary to popular belief, AAC devices do not hinder verbal development of speech, but rather support optimal speech and language development.</p></div></div><div id="stromme.Surveillance"><h3>Surveillance</h3><div class="iconblock whole_rhythm clearfix ten_col table-wrap" id="figstrommeTrecommendedsurveillancefori"><a href="/books/NBK586170/table/stromme.T.recommended_surveillance_for_i/?report=objectonly" target="object" title="Table 6. " class="img_link icnblk_img" rid-ob="figobstrommeTrecommendedsurveillancefori"><img class="small-thumb" src="/corehtml/pmc/css/bookshelf/2.26/img/table-icon.gif" alt="Table Icon" /></a><div class="icnblk_cntnt"><h4 id="stromme.T.recommended_surveillance_for_i"><a href="/books/NBK586170/table/stromme.T.recommended_surveillance_for_i/?report=objectonly" target="object" rid-ob="figobstrommeTrecommendedsurveillancefori">Table 6. </a></h4><p class="float-caption no_bottom_margin">Recommended Surveillance for Individuals with Strømme Syndrome </p></div></div></div><div id="stromme.Evaluation_of_Relatives_at_Risk"><h3>Evaluation of Relatives at Risk</h3><p>See <a href="#stromme.Related_Genetic_Counseling_Issue">Genetic Counseling</a> for issues related to testing of at-risk relatives for genetic counseling purposes.</p></div><div id="stromme.Therapies_Under_Investigation"><h3>Therapies Under Investigation</h3><p>Search <a href="https://clinicaltrials.gov/" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">ClinicalTrials.gov</a> in the US and <a href="https://www.clinicaltrialsregister.eu/ctr-search/search" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">EU Clinical Trials Register</a> in Europe for access to information on clinical studies for a wide range of diseases and conditions. Note: There may not be clinical trials for this disorder.</p></div></div><div id="stromme.Genetic_Counseling"><h2 id="_stromme_Genetic_Counseling_">Genetic Counseling</h2><p>
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<i>Genetic counseling is the process of providing individuals and families with
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information on the nature, mode(s) of inheritance, and implications of genetic disorders to help them
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make informed medical and personal decisions. The following section deals with genetic
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risk assessment and the use of family history and genetic testing to clarify genetic
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status for family members; it is not meant to address all personal, cultural, or
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ethical issues that may arise or to substitute for consultation with a genetics
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professional</i>. —ED.</p><div id="stromme.Mode_of_Inheritance"><h3>Mode of Inheritance</h3><p>Strømme syndrome is inherited in an autosomal recessive manner.</p></div><div id="stromme.Risk_to_Family_Members"><h3>Risk to Family Members</h3><p>
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<b>Parents of a proband</b>
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</p><ul><li class="half_rhythm"><div>The parents of an affected child are presumed to be heterozygous for a <i>CENPF</i> pathogenic variant.</div></li><li class="half_rhythm"><div>Molecular genetic testing is recommended for the parents of a proband to confirm that both parents are heterozygous for a <i>CENPF</i> pathogenic variant and to allow reliable recurrence risk assessment.</div></li><li class="half_rhythm"><div>If a pathogenic variant is detected in only one parent and parental identity testing has confirmed biological maternity and paternity, it is possible that one of the pathogenic variants identified in the proband occurred as a <i>de novo</i> event in the proband or as a postzygotic <i>de novo</i> event in a mosaic parent [<a class="bibr" href="#stromme.REF.j_nsson.2017.519" rid="stromme.REF.j_nsson.2017.519">Jónsson et al 2017</a>]. If the proband appears to have homozygous pathogenic variants (i.e., the same two pathogenic variants), additional possibilities to consider include:</div><ul><li class="half_rhythm"><div>A single- or multiexon deletion in the proband that was not detected by sequence analysis and that resulted in the artifactual appearance of homozygosity;</div></li><li class="half_rhythm"><div>Uniparental isodisomy for the parental chromosome with the pathogenic variant that resulted in homozygosity for the pathogenic variant in the proband.</div></li></ul></li><li class="half_rhythm"><div>Heterozygotes (carriers) are asymptomatic and are not at risk of developing the disorder.</div></li></ul><p>
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<b>Sibs of a proband</b>
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</p><ul><li class="half_rhythm"><div>If both parents are known to be heterozygous for a <i>CENPF</i> pathogenic variant, each sib of an affected individual has at conception a 25% chance of being affected, a 50% chance of being an asymptomatic carrier, and a 25% chance of being unaffected and not a carrier.</div></li><li class="half_rhythm"><div>Heterozygotes (carriers) are asymptomatic and are not at risk of developing the disorder.</div></li></ul><p><b>Offspring of a proband.</b> The offspring of an individual with Strømme syndrome are obligate heterozygotes (carriers) for a pathogenic variant in <i>CENPF</i>.</p><p><b>Other family members.</b> Each sib of the proband's parents is at a 50% risk of being a carrier of a <i>CENPF</i> pathogenic variant.</p></div><div id="stromme.Carrier_Detection"><h3>Carrier Detection</h3><p>Carrier testing for at-risk relatives requires prior identification of the <i>CENPF</i> pathogenic variants in the family.</p></div><div id="stromme.Related_Genetic_Counseling_Issue"><h3>Related Genetic Counseling Issues</h3><p>
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<b>Family planning</b>
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</p><ul><li class="half_rhythm"><div>The optimal time for determination of genetic risk and discussion of the availability of prenatal/preimplantation genetic testing is before pregnancy.</div></li><li class="half_rhythm"><div>It is appropriate to offer genetic counseling (including discussion of potential risks to offspring and reproductive options) to young adults who are carriers or are at risk of being carriers.</div></li></ul></div><div id="stromme.Prenatal_Testing_and_Preimplanta"><h3>Prenatal Testing and Preimplantation Genetic Testing</h3><p>Once the <i>CENPF</i> pathogenic variants have been identified in an affected family member, prenatal and preimplantation genetic testing are possible.</p><p>Differences in perspective may exist among medical professionals and within families regarding the use of prenatal testing. While most centers would consider use of prenatal testing to be a personal decision, discussion of these issues may be helpful.</p></div></div><div id="stromme.Resources"><h2 id="_stromme_Resources_">Resources</h2><p>
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<i>GeneReviews staff has selected the following disease-specific and/or umbrella
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support organizations and/or registries for the benefit of individuals with this disorder
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and their families. GeneReviews is not responsible for the information provided by other
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organizations. For information on selection criteria, click <a href="/books/n/gene/app4/?report=reader">here</a>.</i></p><p>No specific resources for Strømme Syndrome have been identified by <i>GeneReviews</i> staff.</p></div><div id="stromme.Molecular_Genetics"><h2 id="_stromme_Molecular_Genetics_">Molecular Genetics</h2><p><i>Information in the Molecular Genetics and OMIM tables may differ from that elsewhere in the GeneReview: tables may contain more recent information. —</i>ED.</p><div class="iconblock whole_rhythm clearfix ten_col table-wrap" id="figstrommemolgenTA"><a href="/books/NBK586170/table/stromme.molgen.TA/?report=objectonly" target="object" title="Table A." class="img_link icnblk_img" rid-ob="figobstrommemolgenTA"><img class="small-thumb" src="/corehtml/pmc/css/bookshelf/2.26/img/table-icon.gif" alt="Table Icon" /></a><div class="icnblk_cntnt"><h4 id="stromme.molgen.TA"><a href="/books/NBK586170/table/stromme.molgen.TA/?report=objectonly" target="object" rid-ob="figobstrommemolgenTA">Table A.</a></h4><p class="float-caption no_bottom_margin">Strømme Syndrome: Genes and Databases </p></div></div><div class="iconblock whole_rhythm clearfix ten_col table-wrap" id="figstrommemolgenTB"><a href="/books/NBK586170/table/stromme.molgen.TB/?report=objectonly" target="object" title="Table B." class="img_link icnblk_img" rid-ob="figobstrommemolgenTB"><img class="small-thumb" src="/corehtml/pmc/css/bookshelf/2.26/img/table-icon.gif" alt="Table Icon" /></a><div class="icnblk_cntnt"><h4 id="stromme.molgen.TB"><a href="/books/NBK586170/table/stromme.molgen.TB/?report=objectonly" target="object" rid-ob="figobstrommemolgenTB">Table B.</a></h4><p class="float-caption no_bottom_margin">OMIM Entries for Strømme Syndrome (View All in OMIM) </p></div></div><div id="stromme.Molecular_Pathogenesis"><h3>Molecular Pathogenesis</h3><p><i>CENPF</i> encodes centromere protein F (CENPF), which is involved in kinetochore function and chromosome segregation through association with kinetochore and mitotic spindles. CENPF is also essential in ciliogenesis and ciliary function [<a class="bibr" href="#stromme.REF.waters.2015.147" rid="stromme.REF.waters.2015.147">Waters et al 2015</a>, <a class="bibr" href="#stromme.REF.filges.2016.711" rid="stromme.REF.filges.2016.711">Filges et al 2016</a>, <a class="bibr" href="#stromme.REF.cappuccio.2022.102" rid="stromme.REF.cappuccio.2022.102">Cappuccio et al 2022</a>].</p><p><b>Mechanism of disease causation.</b> Loss of function (i.e., haploinsufficiency) leading to anomalies in cell division processes, ciliogenesis, and ciliary function [<a class="bibr" href="#stromme.REF.filges.2016.711" rid="stromme.REF.filges.2016.711">Filges et al 2016</a>, <a class="bibr" href="#stromme.REF.cappuccio.2022.102" rid="stromme.REF.cappuccio.2022.102">Cappuccio et al 2022</a>]</p></div></div><div id="stromme.Chapter_Notes"><h2 id="_stromme_Chapter_Notes_">Chapter Notes</h2><div id="stromme.Acknowledgments"><h3>Acknowledgments</h3><p>We would like to thank the families of individuals with Strømme syndrome for their generous participation in research studies.</p></div><div id="stromme.Revision_History"><h3>Revision History</h3><ul><li class="half_rhythm"><div>10 November 2022 (sw) Review posted live</div></li><li class="half_rhythm"><div>25 July 2022 (sh) Original submission</div></li></ul></div></div><div id="stromme.References"><h2 id="_stromme_References_">References</h2><div id="stromme.Literature_Cited"><h3>Literature Cited</h3><ul class="simple-list"><li class="half_rhythm"><p><div class="bk_ref" id="stromme.REF.aldewik.2019.927">Al-Dewik N, Mohd H, Al-Mureikhi M, Ali R, Al-Mesaifri F, Mahmoud L, Shahbeck N, El-Akouri K, Almulla M, Al Sulaiman R, Musa S, Al-Marri AA, Richard G, Juusola J, Solomon BD, Alkuraya FS, Ben-Omran T. Clinical exome sequencing in 509 Middle Eastern families with suspected Mendelian diseases: the Qatari experience. <span><span class="ref-journal">Am J Med Genet A. </span>2019;<span class="ref-vol">179</span>:927–35.</span> [<a href="/pmc/articles/PMC6916397/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC6916397</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/30919572" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 30919572</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="stromme.REF.alghamdi.2020.103844">Alghamdi M, Alkhamis WH, Bashiri FA, Jamjoom D, Al-Nafisah G, Tahir A, Abdouelhoda M. Expanding the phenotype and the genotype of Stromme syndrome: a novel variant of the CENPF gene and literature review. <span><span class="ref-journal">Eur J Med Genet. </span>2020;<span class="ref-vol">63</span>:103844. </span> [<a href="https://pubmed.ncbi.nlm.nih.gov/31953238" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 31953238</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="stromme.REF.alhamed.2022.101">Al-Hamed MH, Kurdi W, Khan R, Tulbah M, AlNemer M, AlSahan N, AlMugbel M, Rafiullah R, Assoum M, Monies D, Shah Z, Rahbeeni Z, Derar N, Hakami F, Almutairi G, AlOtaibi A, Ali W, AlShammasi A, AlMubarak W, AlDawoud S, AlAmri S, Saeed B, Bukhari H, Ali M, Akili R, Alquayt L, Hagos S, Elbardisy H, Akilan A, Almuhana N, AlKhalifah A, Abouelhoda M, Ramzan K, Sayer JA, Imtiaz F. Prenatal exome sequencing and chromosomal microarray analysis in fetal structural anomalies in a highly consanguineous population reveals a propensity of ciliopathy genes causing multisystem phenotypes. <span><span class="ref-journal">Hum Genet. </span>2022;<span class="ref-vol">141</span>:101–26.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/34853893" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 34853893</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="stromme.REF.blue.2022.1">Blue GM, Mekel M, Das D, Troup M, Rath E, Ip E, Gudkov M, Perumal G, Harvey RP, Sholler GF, Gecz J, Kirk EP, Liu J, Giannoulatou E, Hong H, Dunwoodie SL, Winlaw DS. Whole genome sequencing in transposition of the great arteries and associations with clinically relevant heart, brain and laterality genes. <span><span class="ref-journal">Am Heart J. </span>2022;<span class="ref-vol">244</span>:1–13.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/34670123" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 34670123</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="stromme.REF.cappuccio.2022.102">Cappuccio G, Brillante S, Tammaro R, Pinelli M, De Bernardi ML, Gensini MG, Bijlsma EK, Koopmann TT, Hoffer MJV, McDonald K, Hendon LG, Douzgou S, Deshpande C, D'Arrigo S, Torella A, Nigro V, Franco B, Brunetti-Pierri N. Biallelic variants in CENPF causing a phenotype distinct from Strømme syndrome. <span><span class="ref-journal">Am J Med Genet C Semin Med Genet. </span>2022;<span class="ref-vol">190</span>:102–8.</span> [<a href="/pmc/articles/PMC9322429/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC9322429</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/35488810" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 35488810</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="stromme.REF.caridi.2020.439">Caridi G, Lugani F, Lerone M, Divizia MT, Ghiggeri GM, Verrina E. Renal involvement and Strømme syndrome. <span><span class="ref-journal">Clin Kidney J. </span>2020;<span class="ref-vol">14</span>:439–41.</span> [<a href="/pmc/articles/PMC7857842/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC7857842</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/33564452" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 33564452</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="stromme.REF.filges.2016.711">Filges I, Bruder E, Brandal K, Meier S, Undlien DE, Waage TR, Hoesli I, Schubach M, de Beer T, Sheng Y, Hoeller S, Schulzke S, Røsby O, Miny P, Tercanli S, Oppedal T, Meyer P, Selmer KK, Strømme P. Strømme syndrome is a ciliary disorder caused by mutations in CENPF. <span><span class="ref-journal">Hum Mutat. </span>2016;<span class="ref-vol">37</span>:711.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/27300082" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 27300082</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="stromme.REF.ho.2022.1626">Ho S, Luk HM, Lo IFM. The first case report of Stromme syndrome in a Chinese patient: expanding the phenotype and literature review. <span><span class="ref-journal">Am J Med Genet A. </span>2022;<span class="ref-vol">188</span>:1626–9.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/35001526" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 35001526</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="stromme.REF.j_nsson.2017.519">Jónsson H, Sulem P, Kehr B, Kristmundsdottir S, Zink F, Hjartarson E, Hardarson MT, Hjorleifsson KE, Eggertsson HP, Gudjonsson SA, Ward LD, Arnadottir GA, Helgason EA, Helgason H, Gylfason A, Jonasdottir A, Jonasdottir A, Rafnar T, Frigge M, Stacey SN, Th Magnusson O, Thorsteinsdottir U, Masson G, Kong A, Halldorsson BV, Helgason A, Gudbjartsson DF, Stefansson K. Parental influence on human germline de novo mutations in 1,548 trios from Iceland. <span><span class="ref-journal">Nature. </span>2017;<span class="ref-vol">549</span>:519–22.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/28959963" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 28959963</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="stromme.REF.kahrizi.2019.151">Kahrizi K, Hu H, Hosseini M, Kalscheuer VM, Fattahi Z, Beheshtian M, Suckow V, Mohseni M, Lipkowitz B, Mehvari S, Mehrjoo Z, Akhtarkhavari T, Ghaderi Z, Rahimi M, Arzhangi S, Jamali P, Falahat Chian M, Nikuei P, Sabbagh Kermani F, Sadeghinia F, Jazayeri R, Tonekaboni SH, Khoshaeen A, Habibi H, Pourfatemi F, Mojahedi F, Khodaie-Ardakani MR, Najafipour R, Wienker TF, Najmabadi H, Ropers HH. Effect of inbreeding on intellectual disability revisited by trio sequencing. <span><span class="ref-journal">Clin Genet. </span>2019;<span class="ref-vol">95</span>:151–9.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/30315573" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 30315573</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="stromme.REF.maddirevula.2019.736">Maddirevula S, Alzahrani F, Al-Owain M, Al Muhaizea MA, Kayyali HR, AlHashem A, Rahbeeni Z, Al-Otaibi M, Alzaidan HI, Balobaid A, El Khashab HY, Bubshait DK, Faden M, Yamani SA, Dabbagh O, Al-Mureikhi M, Jasser AA, Alsaif HS, Alluhaydan I, Seidahmed MZ, Alabbasi BH, Almogarri I, Kurdi W, Akleh H, Qari A, Al Tala SM, Alhomaidi S, Kentab AY, Salih MA, Chedrawi A, Alameer S, Tabarki B, Shamseldin HE, Patel N, Ibrahim N, Abdulwahab F, Samira M, Goljan E, Abouelhoda M, Meyer BF, Hashem M, Shaheen R, AlShahwan S, Alfadhel M, Ben-Omran T, Al-Qattan MM, Monies D, Alkuraya FS. Autozygome and high throughput confirmation of disease genes candidacy. <span><span class="ref-journal">Genet Med. </span>2019;<span class="ref-vol">21</span>:736–42.</span> [<a href="/pmc/articles/PMC6752307/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC6752307</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/30237576" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 30237576</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="stromme.REF.monies.2019.879">Monies D, Abouelhoda M, Assoum M, Moghrabi N, Rafiullah R, Almontashiri N, Alowain M, Alzaidan H, Alsayed M, Subhani S, Cupler E, Faden M, Alhashem A, Qari A, Chedrawi A, Aldhalaan H, Kurdi W, Khan S, Rahbeeni Z, Alotaibi M, Goljan E, Elbardisy H, ElKalioby M, Shah Z, Alruwaili H, Jaafar A, Albar R, Akilan A, Tayeb H, Tahir A, Fawzy M, Nasr M, Makki S, Alfaifi A, Akleh H, Yamani S, Bubshait D, Mahnashi M, Basha T, Alsagheir A, Khaled MA, Alsaleem K, Almugbel M, Badawi M, Bashiri F, Bohlega S, Sulaiman R, Tous E, Ahmed S, Algoufi T, Al-Mousa H, Alaki E, Alhumaidi S, Alghamdi H, Alghamdi M, Sahly A, Nahrir S, Al-Ahmari A, Alkuraya H, Almehaidib A, Abanemai M, Alsohaibaini F, Alsaud B, Arnaout R, Abdel-Salam GMH, Aldhekri H, AlKhater S, Alqadi K, Alsabban E, Alshareef T, Awartani K, Banjar H, Alsahan N, Abosoudah I, Alashwal A, Aldekhail W, Alhajjar S, Al-Mayouf S, Alsemari A, Alshuaibi W, Altala S, Altalhi A, Baz S, Hamad M, Abalkhail T, Alenazi B, Alkaff A, Almohareb F, Al Mutairi F, Alsaleh M, Alsonbul A, Alzelaye S, Bahzad S, Manee AB, Jarrad O, Meriki N, Albeirouti B, Alqasmi A, AlBalwi M, Makhseed N, Hassan S, Salih I, Salih MA, Shaheen M, Sermin S, Shahrukh S, Hashmi S, Shawli A, Tajuddin A, Tamim A, Alnahari A, Ghemlas I, Hussein M, Wali S, Murad H, Meyer BF, Alkuraya FS. Lessons learned from large-scale, first-tier clinical exome sequencing in a highly consanguineous population. <span><span class="ref-journal">Am J Hum Genet. </span>2019;<span class="ref-vol">105</span>:879.</span> [<a href="/pmc/articles/PMC6817532/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC6817532</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/31585110" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 31585110</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="stromme.REF.ozkinay.2017.1668">Ozkinay F, Atik T, Isik E, Gormez Z, Sagiroglu M, Sahin OA, Corduk N, Onay H. A further family of Stromme syndrome carrying CENPF mutation. <span><span class="ref-journal">Am J Med Genet A. </span>2017;<span class="ref-vol">173</span>:1668–72.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/28407396" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 28407396</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="stromme.REF.palombo.2020.1429">Palombo F, Graziano C, Al Wardy N, Nouri N, Marconi C, Magini P, Severi G, La Morgia C, Cantalupo G, Cordelli DM, Gangarossa S, Al Kindi MN, Al Khabouri M, Salehi M, Giorgio E, Brusco A, Pisani F, Romeo G, Carelli V, Pippucci T, Seri M. Autozygosity-driven genetic diagnosis in consanguineous families from Italy and the Greater Middle East. <span><span class="ref-journal">Hum Genet. </span>2020;<span class="ref-vol">139</span>:1429–41.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/32488467" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 32488467</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="stromme.REF.richards.2015.405">Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. <span><span class="ref-journal">Genet Med. </span>2015;<span class="ref-vol">17</span>:405–24.</span> [<a href="/pmc/articles/PMC4544753/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC4544753</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/25741868" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 25741868</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="stromme.REF.waters.2015.147">Waters AM, Asfahani R, Carroll P, Bicknell L, Lescai F, Bright A, Chanudet E, Brooks A, Christou-Savina S, Osman G, Walsh P, Bacchelli C, Chapgier A, Vernay B, Bader DM, Deshpande C, O' Sullivan M, Ocaka L, Stanescu H, Stewart HS, Hildebrandt F, Otto E, Johnson CA, Szymanska K, Katsanis N, Davis E, Kleta R, Hubank M, Doxsey S, Jackson A, Stupka E, Winey M, Beales PL. The kinetochore protein, CENPF, is mutated in human ciliopathy and microcephaly phenotypes. <span><span class="ref-journal">J Med Genet. </span>2015;<span class="ref-vol">52</span>:147–56.</span> [<a href="/pmc/articles/PMC4345935/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC4345935</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/25564561" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 25564561</span></a>]</div></p></li></ul></div></div><div id="bk_toc_contnr"></div></div></div><div class="fm-sec"><h2 id="_NBK586170_pubdet_">Publication Details</h2><h3>Author Information and Affiliations</h3><div class="contrib half_rhythm"><span itemprop="author">Stephanie KL Ho</span>, MD<div class="affiliation small">Clinical Genetic Service<br />Department of Health<br />Hong Kong Special Administrative Region, China<div><span class="email-label">Email: </span><a href="mailto:dev@null" data-email="kh.vog.hd@oh_lk_einahpets" class="oemail">kh.vog.hd@oh_lk_einahpets</a></div></div></div><div class="contrib half_rhythm"><span itemprop="author">Lai Ting Leung</span>, MD<div class="affiliation small">Clinical Genetic Service<br />Department of Health<br />Hong Kong Special Administrative Region, China<div><span class="email-label">Email: </span><a href="mailto:dev@null" data-email="kh.vog.hd@1gc_om" class="oemail">kh.vog.hd@1gc_om</a></div></div></div><div class="contrib half_rhythm"><span itemprop="author">Ho-ming Luk</span>, MD<div class="affiliation small">Clinical Genetics Service Unit<br />Hong Kong Children's Hospital<br />Hong Kong Special Administrative Region, China<div><span class="email-label">Email: </span><a href="mailto:dev@null" data-email="kh.gro.ah@mhkul" class="oemail">kh.gro.ah@mhkul</a></div></div></div><div class="contrib half_rhythm"><span itemprop="author">Ivan FM Lo</span>, MD<div class="affiliation small">Clinical Genetic Service<br />Department of Health<br />Hong Kong Special Administrative Region, China<div><span class="email-label">Email: </span><a href="mailto:dev@null" data-email="kh.vog.hd@gc_noc" class="oemail">kh.vog.hd@gc_noc</a></div></div></div><h3>Publication History</h3><p class="small">Initial Posting: <span itemprop="datePublished">November 10, 2022</span>.</p><h3>Copyright</h3><div><div class="half_rhythm"><a href="/books/about/copyright/">Copyright</a> © 1993-2025, University of Washington, Seattle. 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<i>CENPF</i>
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</td><td headers="hd_h_stromme.T.molecular_genetic_testing_used_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Sequence analysis <sup>3</sup></td><td headers="hd_h_stromme.T.molecular_genetic_testing_used_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">100% <sup>4</sup></td></tr><tr><td headers="hd_h_stromme.T.molecular_genetic_testing_used_1_1_1_2" colspan="1" scope="row" rowspan="1" style="text-align:left;vertical-align:middle;">Gene-targeted deletion/duplication analysis <sup>5</sup></td><td headers="hd_h_stromme.T.molecular_genetic_testing_used_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">None reported <sup>6</sup></td></tr></tbody></table></div><div class="tblwrap-foot"><div><dl class="temp-labeled-list small"><dl class="bkr_refwrap"><dt>1. </dt><dd><div id="stromme.TF.1.1"><p class="no_margin">See <a href="/books/NBK586170/?report=reader#stromme.molgen.TA">Table A. Genes and Databases</a> for chromosome locus and protein.</p></div></dd></dl><dl class="bkr_refwrap"><dt>2. </dt><dd><div id="stromme.TF.1.2"><p class="no_margin">See <a href="#stromme.Molecular_Genetics">Molecular Genetics</a> for information on variants detected in this gene.</p></div></dd></dl><dl class="bkr_refwrap"><dt>3. </dt><dd><div id="stromme.TF.1.3"><p class="no_margin">Sequence analysis detects variants that are benign, likely benign, of uncertain significance, likely pathogenic, or pathogenic. Variants may include small intragenic deletions/insertions and missense, nonsense, and splice site variants; typically, exon or whole-gene deletions/duplications are not detected. For issues to consider in interpretation of sequence analysis results, click <a href="/books/n/gene/app2/?report=reader">here</a>.</p></div></dd></dl><dl class="bkr_refwrap"><dt>4. </dt><dd><div id="stromme.TF.1.4"><p class="no_margin"><a class="bibr" href="#stromme.REF.waters.2015.147" rid="stromme.REF.waters.2015.147">Waters et al [2015]</a>, <a class="bibr" href="#stromme.REF.filges.2016.711" rid="stromme.REF.filges.2016.711">Filges et al [2016]</a>, <a class="bibr" href="#stromme.REF.ozkinay.2017.1668" rid="stromme.REF.ozkinay.2017.1668">Ozkinay et al [2017]</a>, <a class="bibr" href="#stromme.REF.aldewik.2019.927" rid="stromme.REF.aldewik.2019.927">Al-Dewik et al [2019]</a>, <a class="bibr" href="#stromme.REF.kahrizi.2019.151" rid="stromme.REF.kahrizi.2019.151">Kahrizi et al [2019]</a>, <a class="bibr" href="#stromme.REF.maddirevula.2019.736" rid="stromme.REF.maddirevula.2019.736">Maddirevula et al [2019]</a>, <a class="bibr" href="#stromme.REF.monies.2019.879" rid="stromme.REF.monies.2019.879">Monies et al [2019]</a>, <a class="bibr" href="#stromme.REF.alghamdi.2020.103844" rid="stromme.REF.alghamdi.2020.103844">Alghamdi et al [2020]</a>, <a class="bibr" href="#stromme.REF.caridi.2020.439" rid="stromme.REF.caridi.2020.439">Caridi et al [2020]</a>, <a class="bibr" href="#stromme.REF.alhamed.2022.101" rid="stromme.REF.alhamed.2022.101">Al-Hamed et al [2022]</a>, <a class="bibr" href="#stromme.REF.cappuccio.2022.102" rid="stromme.REF.cappuccio.2022.102">Cappuccio et al [2022]</a>, <a class="bibr" href="#stromme.REF.ho.2022.1626" rid="stromme.REF.ho.2022.1626">Ho et al [2022]</a></p></div></dd></dl><dl class="bkr_refwrap"><dt>5. </dt><dd><div id="stromme.TF.1.5"><p class="no_margin">Gene-targeted deletion/duplication analysis detects intragenic deletions or duplications. Methods used may include a range of techniques such as quantitative PCR, long-range PCR, multiplex ligation-dependent probe amplification (MLPA), and a gene-targeted microarray designed to detect single-exon deletions or duplications.</p></div></dd></dl><dl class="bkr_refwrap"><dt>6. </dt><dd><div id="stromme.TF.1.6"><p class="no_margin">To date, no large exon or multiexon deletions or duplications have been reported.</p></div></dd></dl></dl></div></div></div></article><article data-type="table-wrap" id="figobstrommeTstrmmesyndromefrequencyof"><div id="stromme.T.str_mme_syndrome_frequency_of" class="table"><h3><span class="label">Table 2. </span></h3><div class="caption"><p>Strømme Syndrome: Frequency of Select Features</p></div><p class="large-table-link" style="display:none"><span class="right"><a href="/books/NBK586170/table/stromme.T.str_mme_syndrome_frequency_of/?report=objectonly" target="object">View in own window</a></span></p><div class="large_tbl" id="__stromme.T.str_mme_syndrome_frequency_of_lrgtbl__"><table class="no_bottom_margin"><thead><tr><th id="hd_h_stromme.T.str_mme_syndrome_frequency_of_1_1_1_1" colspan="2" scope="colgroup" rowspan="1" style="text-align:left;vertical-align:middle;">Feature</th><th id="hd_h_stromme.T.str_mme_syndrome_frequency_of_1_1_1_2" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Proportion of Persons w/Feature</th><th id="hd_h_stromme.T.str_mme_syndrome_frequency_of_1_1_1_3" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Comment</th></tr></thead><tbody><tr><td headers="hd_h_stromme.T.str_mme_syndrome_frequency_of_1_1_1_1" rowspan="4" scope="row" colspan="1" style="text-align:left;vertical-align:middle;">
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<b>Intestinal atresia</b>
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</td><td headers="hd_h_stromme.T.str_mme_syndrome_frequency_of_1_1_1_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Small bowel intestinal atresia</td><td headers="hd_h_stromme.T.str_mme_syndrome_frequency_of_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">14/25</td><td headers="hd_h_stromme.T.str_mme_syndrome_frequency_of_1_1_1_3" rowspan="4" colspan="1" style="text-align:left;vertical-align:middle;">Often assoc w/malrotation</td></tr><tr><td headers="hd_h_stromme.T.str_mme_syndrome_frequency_of_1_1_1_1" colspan="1" scope="row" rowspan="1" style="text-align:left;vertical-align:middle;">Duodenal atresia</td><td headers="hd_h_stromme.T.str_mme_syndrome_frequency_of_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">8/16 <sup>1</sup></td></tr><tr><td headers="hd_h_stromme.T.str_mme_syndrome_frequency_of_1_1_1_1" colspan="1" scope="row" rowspan="1" style="text-align:left;vertical-align:middle;">Jejunal atresia</td><td headers="hd_h_stromme.T.str_mme_syndrome_frequency_of_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">4/16 <sup>1</sup></td></tr><tr><td headers="hd_h_stromme.T.str_mme_syndrome_frequency_of_1_1_1_1" colspan="1" scope="row" rowspan="1" style="text-align:left;vertical-align:middle;">Multiple segment atresia</td><td headers="hd_h_stromme.T.str_mme_syndrome_frequency_of_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">3/16 <sup>1</sup></td></tr><tr><td headers="hd_h_stromme.T.str_mme_syndrome_frequency_of_1_1_1_1" rowspan="3" scope="row" colspan="1" style="text-align:left;vertical-align:middle;">
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<b>Neurodevelopmental</b>
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</td><td headers="hd_h_stromme.T.str_mme_syndrome_frequency_of_1_1_1_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Microcephaly</td><td headers="hd_h_stromme.T.str_mme_syndrome_frequency_of_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">21/23</td><td headers="hd_h_stromme.T.str_mme_syndrome_frequency_of_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td></tr><tr><td headers="hd_h_stromme.T.str_mme_syndrome_frequency_of_1_1_1_1" colspan="1" scope="row" rowspan="1" style="text-align:left;vertical-align:middle;">Developmental delay / intellectual disability</td><td headers="hd_h_stromme.T.str_mme_syndrome_frequency_of_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">13/14</td><td headers="hd_h_stromme.T.str_mme_syndrome_frequency_of_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td></tr><tr><td headers="hd_h_stromme.T.str_mme_syndrome_frequency_of_1_1_1_1" colspan="1" scope="row" rowspan="1" style="text-align:left;vertical-align:middle;">Structural brain anomalies</td><td headers="hd_h_stromme.T.str_mme_syndrome_frequency_of_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">9/15</td><td headers="hd_h_stromme.T.str_mme_syndrome_frequency_of_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Corpus callosum agenesis, hydrocephalus, pachygyria, lissencephaly, holoprosencephaly, cerebral & cerebellar hypoplasia</td></tr><tr><td headers="hd_h_stromme.T.str_mme_syndrome_frequency_of_1_1_1_1" rowspan="2" scope="row" colspan="1" style="text-align:left;vertical-align:middle;">
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<b>Ophthalmologic</b>
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</td><td headers="hd_h_stromme.T.str_mme_syndrome_frequency_of_1_1_1_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Anterior segment anomalies</td><td headers="hd_h_stromme.T.str_mme_syndrome_frequency_of_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">9/14</td><td headers="hd_h_stromme.T.str_mme_syndrome_frequency_of_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Peters anomaly, corneal opacity w/or w/o lens adhesions, sclerocornea, atrophy of iris villi, cornea-peripheral anterior synechiae, cataract, iris coloboma, microcornea, irregular & dilated pupil</td></tr><tr><td headers="hd_h_stromme.T.str_mme_syndrome_frequency_of_1_1_1_1" colspan="1" scope="row" rowspan="1" style="text-align:left;vertical-align:middle;">Microphthalmia</td><td headers="hd_h_stromme.T.str_mme_syndrome_frequency_of_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">8/14</td><td headers="hd_h_stromme.T.str_mme_syndrome_frequency_of_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Unilateral or bilateral</td></tr><tr><td headers="hd_h_stromme.T.str_mme_syndrome_frequency_of_1_1_1_1" rowspan="2" scope="row" colspan="1" style="text-align:left;vertical-align:middle;">
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<b>Genitourinary anomalies</b>
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</td><td headers="hd_h_stromme.T.str_mme_syndrome_frequency_of_1_1_1_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Hypoplastic kidney</td><td headers="hd_h_stromme.T.str_mme_syndrome_frequency_of_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">6/16</td><td headers="hd_h_stromme.T.str_mme_syndrome_frequency_of_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td></tr><tr><td headers="hd_h_stromme.T.str_mme_syndrome_frequency_of_1_1_1_1" colspan="1" scope="row" rowspan="1" style="text-align:left;vertical-align:middle;">Cryptorchidism</td><td headers="hd_h_stromme.T.str_mme_syndrome_frequency_of_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">4/9</td><td headers="hd_h_stromme.T.str_mme_syndrome_frequency_of_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td></tr><tr><td headers="hd_h_stromme.T.str_mme_syndrome_frequency_of_1_1_1_1" rowspan="3" scope="row" colspan="1" style="text-align:left;vertical-align:middle;">
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<b>Other</b>
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</td><td headers="hd_h_stromme.T.str_mme_syndrome_frequency_of_1_1_1_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Congenital heart disease</td><td headers="hd_h_stromme.T.str_mme_syndrome_frequency_of_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">5/18 <sup>2</sup></td><td headers="hd_h_stromme.T.str_mme_syndrome_frequency_of_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Septal defects, patent ductus arteriosus, coarctation of aorta, & Ebstein-like tricuspid valve</td></tr><tr><td headers="hd_h_stromme.T.str_mme_syndrome_frequency_of_1_1_1_1" colspan="1" scope="row" rowspan="1" style="text-align:left;vertical-align:middle;">Polydactyly</td><td headers="hd_h_stromme.T.str_mme_syndrome_frequency_of_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">2/25</td><td headers="hd_h_stromme.T.str_mme_syndrome_frequency_of_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Preaxial</td></tr><tr><td headers="hd_h_stromme.T.str_mme_syndrome_frequency_of_1_1_1_1" colspan="1" scope="row" rowspan="1" style="text-align:left;vertical-align:middle;">Accessory spleen</td><td headers="hd_h_stromme.T.str_mme_syndrome_frequency_of_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">2/11</td><td headers="hd_h_stromme.T.str_mme_syndrome_frequency_of_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td></tr></tbody></table></div><div class="tblwrap-foot"><div><dl class="temp-labeled-list small"><dl class="bkr_refwrap"><dt>1. </dt><dd><div id="stromme.TF.2.1"><p class="no_margin">Three of the individuals with intestinal atresia reported in the literature did not have the affected segment specified and are therefore excluded from the denominator.</p></div></dd></dl><dl class="bkr_refwrap"><dt>2. </dt><dd><div id="stromme.TF.2.2"><p class="no_margin">Physiologic patent ductus arteriosus due to prematurity is not included.</p></div></dd></dl></dl></div></div></div></article><article data-type="table-wrap" id="figobstrommeTgenesofinterestinthediffe"><div id="stromme.T.genes_of_interest_in_the_diffe" class="table"><h3><span class="label">Table 3. </span></h3><div class="caption"><p>Genes of Interest in the Differential Diagnosis of Intestinal Atresia</p></div><p class="large-table-link" style="display:none"><span class="right"><a href="/books/NBK586170/table/stromme.T.genes_of_interest_in_the_diffe/?report=objectonly" target="object">View in own window</a></span></p><div class="large_tbl" id="__stromme.T.genes_of_interest_in_the_diffe_lrgtbl__"><table class="no_bottom_margin"><thead><tr><th id="hd_h_stromme.T.genes_of_interest_in_the_diffe_1_1_1_1" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Gene</th><th id="hd_h_stromme.T.genes_of_interest_in_the_diffe_1_1_1_2" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Disorder</th><th id="hd_h_stromme.T.genes_of_interest_in_the_diffe_1_1_1_3" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">MOI</th><th id="hd_h_stromme.T.genes_of_interest_in_the_diffe_1_1_1_4" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Distinctive Features</th></tr></thead><tbody><tr><td headers="hd_h_stromme.T.genes_of_interest_in_the_diffe_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
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<i>MYCN</i>
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</td><td headers="hd_h_stromme.T.genes_of_interest_in_the_diffe_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"><a href="/books/n/gene/feingold/?report=reader">Feingold syndrome 1</a> (FS1)</td><td headers="hd_h_stromme.T.genes_of_interest_in_the_diffe_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AD</td><td headers="hd_h_stromme.T.genes_of_interest_in_the_diffe_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Unlike Strømme syndrome, FS1 is assoc w/:
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<ul><li class="half_rhythm"><div>Digital anomalies incl toe syndactyly, thumb hypoplasia, & brachymesophalangy;</div></li><li class="half_rhythm"><div>Tracheoesophageal atresia.</div></li></ul></td></tr><tr><td headers="hd_h_stromme.T.genes_of_interest_in_the_diffe_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
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<i>PI4KA</i>
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</td><td headers="hd_h_stromme.T.genes_of_interest_in_the_diffe_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"><i>PI4KA</i>-related multiple intestinal atresia ± immunodeficiency (See <a href="/books/n/gene/pi4ka/?report=reader"><i>PI4KA</i>-Related Disorder</a>.)</td><td headers="hd_h_stromme.T.genes_of_interest_in_the_diffe_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_stromme.T.genes_of_interest_in_the_diffe_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Unlike Strømme syndrome, <i>PI4KA</i>-related disorder may be assoc w/immunodeficiency.</td></tr><tr><td headers="hd_h_stromme.T.genes_of_interest_in_the_diffe_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
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<i>RFX6</i>
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</td><td headers="hd_h_stromme.T.genes_of_interest_in_the_diffe_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Mitchell-Riley syndrome (OMIM <a href="https://omim.org/entry/615710" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">615710</a>)</td><td headers="hd_h_stromme.T.genes_of_interest_in_the_diffe_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_stromme.T.genes_of_interest_in_the_diffe_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Unlike Strømme syndrome, Mitchell-Riley syndrome is assoc w/:
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<ul><li class="half_rhythm"><div>GI involvement incl cholestasis, gallbladder aplasia or hypoplasia, & hypoplastic or annular pancreas;</div></li><li class="half_rhythm"><div>Neonatal or childhood onset diabetes.</div></li></ul></td></tr><tr><td headers="hd_h_stromme.T.genes_of_interest_in_the_diffe_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
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<i>TTC7A</i>
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</td><td headers="hd_h_stromme.T.genes_of_interest_in_the_diffe_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Gastrointestinal defects & immunodeficiency syndrome 1 (GIDID1) (OMIM <a href="https://omim.org/entry/243150" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">243150</a>)</td><td headers="hd_h_stromme.T.genes_of_interest_in_the_diffe_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_stromme.T.genes_of_interest_in_the_diffe_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Unlike Strømme syndrome, GIDID1 is assoc w/:
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<ul><li class="half_rhythm"><div>GI involvement (e.g., hepatitis, omphalocele);</div></li><li class="half_rhythm"><div>Immunodeficiency w/thymus hypoplasia.</div></li></ul></td></tr></tbody></table></div><div class="tblwrap-foot"><div><dl class="temp-labeled-list small"><dl class="bkr_refwrap"><dt></dt><dd><div><p class="no_margin">AD = autosomal dominant; AR = autosomal recessive; GI = gastrointestinal; MOI = mode of inheritance</p></div></dd></dl></dl></div></div></div></article><article data-type="table-wrap" id="figobstrommeTrecommendedevaluationsfollow"><div id="stromme.T.recommended_evaluations_follow" class="table"><h3><span class="label">Table 4. </span></h3><div class="caption"><p>Recommended Evaluations Following Initial Diagnosis in Individuals with Strømme Syndrome</p></div><p class="large-table-link" style="display:none"><span class="right"><a href="/books/NBK586170/table/stromme.T.recommended_evaluations_follow/?report=objectonly" target="object">View in own window</a></span></p><div class="large_tbl" id="__stromme.T.recommended_evaluations_follow_lrgtbl__"><table class="no_bottom_margin"><thead><tr><th id="hd_h_stromme.T.recommended_evaluations_follow_1_1_1_1" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">System/Concern</th><th id="hd_h_stromme.T.recommended_evaluations_follow_1_1_1_2" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Evaluation</th><th id="hd_h_stromme.T.recommended_evaluations_follow_1_1_1_3" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Comment</th></tr></thead><tbody><tr><td headers="hd_h_stromme.T.recommended_evaluations_follow_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
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<b>Gastrointestinal/</b>
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<br />
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<b>Feeding</b>
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</td><td headers="hd_h_stromme.T.recommended_evaluations_follow_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Gastroenterologist / GI surgeon / nutrition / feeding team eval</td><td headers="hd_h_stromme.T.recommended_evaluations_follow_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">To incl eval of intestinal atresia & feeding difficulties</td></tr><tr><td headers="hd_h_stromme.T.recommended_evaluations_follow_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
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<b>Neurologic</b>
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</td><td headers="hd_h_stromme.T.recommended_evaluations_follow_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Neurologic eval</td><td headers="hd_h_stromme.T.recommended_evaluations_follow_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Consider brain MRI to delineate structural brain anomalies if there is evidence of neurologic abnormalities or DD.</td></tr><tr><td headers="hd_h_stromme.T.recommended_evaluations_follow_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
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<b>Development</b>
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</td><td headers="hd_h_stromme.T.recommended_evaluations_follow_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Developmental assessment</td><td headers="hd_h_stromme.T.recommended_evaluations_follow_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
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<ul><li class="half_rhythm"><div>To incl motor, adaptive, cognitive, & speech/language eval</div></li><li class="half_rhythm"><div>Eval for early intervention / special education</div></li></ul>
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</td></tr><tr><td headers="hd_h_stromme.T.recommended_evaluations_follow_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
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<b>Ophthalmologic</b>
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</td><td headers="hd_h_stromme.T.recommended_evaluations_follow_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Ophthalmologic exam</td><td headers="hd_h_stromme.T.recommended_evaluations_follow_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">To assess for structural eye anomalies & visual impairment</td></tr><tr><td headers="hd_h_stromme.T.recommended_evaluations_follow_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
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<b>Genitourinary</b>
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<br />
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<b>anomalies</b>
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</td><td headers="hd_h_stromme.T.recommended_evaluations_follow_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
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<ul><li class="half_rhythm"><div>Renal ultrasound eval for structural anomalies & parenchymal disease</div></li><li class="half_rhythm"><div>Physical exam for undescended testes in males</div></li><li class="half_rhythm"><div>Lab assessment of renal function incl CBC, BUN, creatinine, & electrolytes</div></li></ul>
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</td><td headers="hd_h_stromme.T.recommended_evaluations_follow_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td></tr><tr><td headers="hd_h_stromme.T.recommended_evaluations_follow_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
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<b>Congenital</b>
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<br />
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<b>heart disease</b>
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</td><td headers="hd_h_stromme.T.recommended_evaluations_follow_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Echocardiogram</td><td headers="hd_h_stromme.T.recommended_evaluations_follow_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">To assess valvular & anatomic defects</td></tr><tr><td headers="hd_h_stromme.T.recommended_evaluations_follow_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
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<b>Genetic</b>
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<br />
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<b>counseling</b>
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</td><td headers="hd_h_stromme.T.recommended_evaluations_follow_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">By genetics professionals <sup>1</sup></td><td headers="hd_h_stromme.T.recommended_evaluations_follow_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">To inform affected persons & their families re nature, MOI, & implications of Strømme syndrome to facilitate medical & personal decision making</td></tr><tr><td headers="hd_h_stromme.T.recommended_evaluations_follow_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
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<b>Family support</b>
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<br />
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<b>& resources</b>
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</td><td headers="hd_h_stromme.T.recommended_evaluations_follow_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Assess need for:
|
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<ul><li class="half_rhythm"><div>Community or <a href="#stromme.Resources">online resources</a> such as <a href="https://www.p2pusa.org/" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">Parent to Parent</a>;</div></li><li class="half_rhythm"><div>Social work involvement for parental support;</div></li><li class="half_rhythm"><div>Home nursing referral.</div></li></ul></td><td headers="hd_h_stromme.T.recommended_evaluations_follow_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td></tr></tbody></table></div><div class="tblwrap-foot"><div><dl class="temp-labeled-list small"><dl class="bkr_refwrap"><dt></dt><dd><div><p class="no_margin">BUN = blood urea nitrogen; CBC = complete blood count; DD = developmental delay; GI = gastrointestinal; MOI = mode of inheritance</p></div></dd></dl><dl class="bkr_refwrap"><dt>1. </dt><dd><div id="stromme.TF.4.1"><p class="no_margin">Medical geneticist, certified genetic counselor, certified advanced genetic nurse</p></div></dd></dl></dl></div></div></div></article><article data-type="table-wrap" id="figobstrommeTtreatmentofmanifestationsin"><div id="stromme.T.treatment_of_manifestations_in" class="table"><h3><span class="label">Table 5. </span></h3><div class="caption"><p>Treatment of Manifestations in Individuals with Strømme Syndrome</p></div><p class="large-table-link" style="display:none"><span class="right"><a href="/books/NBK586170/table/stromme.T.treatment_of_manifestations_in/?report=objectonly" target="object">View in own window</a></span></p><div class="large_tbl" id="__stromme.T.treatment_of_manifestations_in_lrgtbl__"><table class="no_bottom_margin"><thead><tr><th id="hd_h_stromme.T.treatment_of_manifestations_in_1_1_1_1" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Manifestation/Concern</th><th id="hd_h_stromme.T.treatment_of_manifestations_in_1_1_1_2" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Treatment</th><th id="hd_h_stromme.T.treatment_of_manifestations_in_1_1_1_3" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Considerations/Other</th></tr></thead><tbody><tr><td headers="hd_h_stromme.T.treatment_of_manifestations_in_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
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<b>Intestinal atresia</b>
|
|
</td><td headers="hd_h_stromme.T.treatment_of_manifestations_in_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Surgical treatment of gastrointestinal atresia</td><td headers="hd_h_stromme.T.treatment_of_manifestations_in_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Per gastroenterologist / GI surgeon</td></tr><tr><td headers="hd_h_stromme.T.treatment_of_manifestations_in_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
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<b>Developmental delay /</b>
|
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<br />
|
|
<b>Intellectual disability</b>
|
|
</td><td headers="hd_h_stromme.T.treatment_of_manifestations_in_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">See <a href="#stromme.Developmental_Delay__Intellectua">Developmental Delay / Intellectual Disability Management Issues</a>.</td><td headers="hd_h_stromme.T.treatment_of_manifestations_in_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td></tr><tr><td headers="hd_h_stromme.T.treatment_of_manifestations_in_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
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<b>Ophthalmologic</b>
|
|
</td><td headers="hd_h_stromme.T.treatment_of_manifestations_in_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Per ophthalmologist</td><td headers="hd_h_stromme.T.treatment_of_manifestations_in_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td></tr><tr><td headers="hd_h_stromme.T.treatment_of_manifestations_in_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
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<b>Renal anomalies</b>
|
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</td><td headers="hd_h_stromme.T.treatment_of_manifestations_in_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Per renal consultants</td><td headers="hd_h_stromme.T.treatment_of_manifestations_in_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td></tr><tr><td headers="hd_h_stromme.T.treatment_of_manifestations_in_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
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<b>Cardiac anomalies</b>
|
|
</td><td headers="hd_h_stromme.T.treatment_of_manifestations_in_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Per cardiac consultants</td><td headers="hd_h_stromme.T.treatment_of_manifestations_in_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td></tr><tr><td headers="hd_h_stromme.T.treatment_of_manifestations_in_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
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<b>Family/Community</b>
|
|
</td><td headers="hd_h_stromme.T.treatment_of_manifestations_in_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<ul><li class="half_rhythm"><div>Ensure appropriate social work involvement to connect families w/local resources, respite, & support.</div></li><li class="half_rhythm"><div>Coordinate care to manage multiple subspecialty appointments, equipment, medications, & supplies.</div></li></ul>
|
|
</td><td headers="hd_h_stromme.T.treatment_of_manifestations_in_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<ul><li class="half_rhythm"><div>Ongoing assessment of need for palliative care involvement &/or home nursing</div></li><li class="half_rhythm"><div>Consider involvement in adaptive sports or Special Olympics.</div></li></ul>
|
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</td></tr></tbody></table></div><div class="tblwrap-foot"><div><dl class="temp-labeled-list small"><dl class="bkr_refwrap"><dt></dt><dd><div><p class="no_margin">GI = gastrointestinal</p></div></dd></dl></dl></div></div></div></article><article data-type="table-wrap" id="figobstrommeTrecommendedsurveillancefori"><div id="stromme.T.recommended_surveillance_for_i" class="table"><h3><span class="label">Table 6. </span></h3><div class="caption"><p>Recommended Surveillance for Individuals with Strømme Syndrome</p></div><p class="large-table-link" style="display:none"><span class="right"><a href="/books/NBK586170/table/stromme.T.recommended_surveillance_for_i/?report=objectonly" target="object">View in own window</a></span></p><div class="large_tbl" id="__stromme.T.recommended_surveillance_for_i_lrgtbl__"><table><thead><tr><th id="hd_h_stromme.T.recommended_surveillance_for_i_1_1_1_1" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">System/Concern</th><th id="hd_h_stromme.T.recommended_surveillance_for_i_1_1_1_2" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">Evaluation</th><th id="hd_h_stromme.T.recommended_surveillance_for_i_1_1_1_3" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">Frequency</th></tr></thead><tbody><tr><td headers="hd_h_stromme.T.recommended_surveillance_for_i_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
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<b>Growth/Feeding</b>
|
|
</td><td headers="hd_h_stromme.T.recommended_surveillance_for_i_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
|
|
<ul><li class="half_rhythm"><div>Measurement of growth parameters</div></li><li class="half_rhythm"><div>Eval of nutritional status & oral intake</div></li></ul>
|
|
</td><td headers="hd_h_stromme.T.recommended_surveillance_for_i_1_1_1_3" rowspan="2" colspan="1" style="text-align:left;vertical-align:middle;">At each visit</td></tr><tr><td headers="hd_h_stromme.T.recommended_surveillance_for_i_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
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<b>Development</b>
|
|
</td><td headers="hd_h_stromme.T.recommended_surveillance_for_i_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">Monitor developmental progress & educational needs.</td></tr><tr><td headers="hd_h_stromme.T.recommended_surveillance_for_i_1_1_1_1" rowspan="2" scope="row" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<b>Ophthalmologic</b>
|
|
</td><td headers="hd_h_stromme.T.recommended_surveillance_for_i_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Eval of structural eye anomalies</td><td headers="hd_h_stromme.T.recommended_surveillance_for_i_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">Per treating ophthalmologist</td></tr><tr><td headers="hd_h_stromme.T.recommended_surveillance_for_i_1_1_1_2" colspan="1" scope="row" rowspan="1" style="text-align:left;vertical-align:top;">Evaluate for changes in vision.</td><td headers="hd_h_stromme.T.recommended_surveillance_for_i_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">Per low-vision clinic</td></tr><tr><td headers="hd_h_stromme.T.recommended_surveillance_for_i_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<b>Family/</b>
|
|
<br />
|
|
<b>Community</b>
|
|
</td><td headers="hd_h_stromme.T.recommended_surveillance_for_i_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">Assess family need for social work support (e.g., palliative/respite care, home nursing, other local resources), care coordination, or follow-up genetic counseling if new questions arise (e.g., family planning).</td><td headers="hd_h_stromme.T.recommended_surveillance_for_i_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">At each visit</td></tr></tbody></table></div></div></article><article data-type="table-wrap" id="figobstrommemolgenTA"><div id="stromme.molgen.TA" class="table"><h3><span class="label">Table A.</span></h3><div class="caption"><p>Strømme Syndrome: Genes and Databases</p></div><p class="large-table-link" style="display:none"><span class="right"><a href="/books/NBK586170/table/stromme.molgen.TA/?report=objectonly" target="object">View in own window</a></span></p><div class="large_tbl" id="__stromme.molgen.TA_lrgtbl__"><table class="no_bottom_margin"><tbody><tr><th id="hd_b_stromme.molgen.TA_1_1_1_1" rowspan="1" colspan="1" style="vertical-align:top;">Gene</th><th id="hd_b_stromme.molgen.TA_1_1_1_2" rowspan="1" colspan="1" style="vertical-align:top;">Chromosome Locus</th><th id="hd_b_stromme.molgen.TA_1_1_1_3" rowspan="1" colspan="1" style="vertical-align:top;">Protein</th><th id="hd_b_stromme.molgen.TA_1_1_1_4" rowspan="1" colspan="1" style="vertical-align:top;">Locus-Specific Databases</th><th id="hd_b_stromme.molgen.TA_1_1_1_5" rowspan="1" colspan="1" style="vertical-align:top;">HGMD</th><th id="hd_b_stromme.molgen.TA_1_1_1_6" rowspan="1" colspan="1" style="vertical-align:top;">ClinVar</th></tr><tr><td headers="hd_b_stromme.molgen.TA_1_1_1_1" rowspan="1" colspan="1" style="vertical-align:top;">
|
|
<a href="/gene/1063" ref="pagearea=body&targetsite=entrez&targetcat=link&targettype=gene">
|
|
<i>CENPF</i>
|
|
</a>
|
|
</td><td headers="hd_b_stromme.molgen.TA_1_1_1_2" rowspan="1" colspan="1" style="vertical-align:top;">
|
|
<a href="https://www.ncbi.nlm.nih.gov/genome/gdv/?context=gene&acc=1063" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">1q41</a>
|
|
</td><td headers="hd_b_stromme.molgen.TA_1_1_1_3" rowspan="1" colspan="1" style="vertical-align:top;">
|
|
<a href="http://www.uniprot.org/uniprot/P49454" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">Centromere protein F</a>
|
|
</td><td headers="hd_b_stromme.molgen.TA_1_1_1_4" rowspan="1" colspan="1" style="vertical-align:top;">
|
|
<a href="https://databases.lovd.nl/shared/genes/CENPF" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">CENPF @ LOVD</a>
|
|
</td><td headers="hd_b_stromme.molgen.TA_1_1_1_5" rowspan="1" colspan="1" style="vertical-align:top;">
|
|
<a href="http://www.hgmd.cf.ac.uk/ac/gene.php?gene=CENPF" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">CENPF</a>
|
|
</td><td headers="hd_b_stromme.molgen.TA_1_1_1_6" rowspan="1" colspan="1" style="vertical-align:top;">
|
|
<a href="https://www.ncbi.nlm.nih.gov/clinvar/?term=CENPF[gene]" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">CENPF</a>
|
|
</td></tr></tbody></table></div><div class="tblwrap-foot"><div><dl class="temp-labeled-list small"><dl class="bkr_refwrap"><dt></dt><dd><div id="stromme.TFA.1"><p class="no_margin">Data are compiled from the following standard references: gene from
|
|
<a href="http://www.genenames.org/index.html" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">HGNC</a>;
|
|
chromosome locus from
|
|
<a href="http://www.omim.org/" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">OMIM</a>;
|
|
protein from <a href="http://www.uniprot.org/" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">UniProt</a>.
|
|
For a description of databases (Locus Specific, HGMD, ClinVar) to which links are provided, click
|
|
<a href="/books/n/gene/app1/?report=reader">here</a>.</p></div></dd></dl></dl></div></div></div></article><article data-type="table-wrap" id="figobstrommemolgenTB"><div id="stromme.molgen.TB" class="table"><h3><span class="label">Table B.</span></h3><div class="caption"><p>OMIM Entries for Strømme Syndrome (<a href="/omim/243605,600236" ref="pagearea=body&targetsite=entrez&targetcat=term&targettype=omim">View All in OMIM</a>) </p></div><p class="large-table-link" style="display:none"><span class="right"><a href="/books/NBK586170/table/stromme.molgen.TB/?report=objectonly" target="object">View in own window</a></span></p><div class="large_tbl" id="__stromme.molgen.TB_lrgtbl__"><table><tbody><tr><td rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
|
|
<a href="/omim/243605" ref="pagearea=body&targetsite=entrez&targetcat=term&targettype=omim">243605</a></td><td rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">STROMME SYNDROME; STROMS</td></tr><tr><td rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
|
|
<a href="/omim/600236" ref="pagearea=body&targetsite=entrez&targetcat=term&targettype=omim">600236</a></td><td rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">CENTROMERIC PROTEIN F; CENPF</td></tr></tbody></table></div></div></article></div><div id="jr-scripts"><script src="/corehtml/pmc/jatsreader/ptpmc_3.22/js/libs.min.js"> </script><script src="/corehtml/pmc/jatsreader/ptpmc_3.22/js/jr.min.js"> </script><script type="text/javascript">if (typeof (jQuery) != 'undefined') { (function ($) { $(function () { var min = Math.ceil(1); var max = Math.floor(100000); var randomNum = Math.floor(Math.random() * (max - min)) + min; var surveyUrl = "/projects/Gene/portal/surveys/seqdbui-survey.js?rando=" + randomNum.toString(); $.getScript(surveyUrl, function () { try { ncbi.seqDbUISurvey.init(); } catch (err) { console.info(err); } }).fail(function (jqxhr, settings, exception) { console.info('Cannot load survey script', jqxhr); });; }); })(jQuery); };</script></div></div>
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