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<meta name="keywords" content="3-m syndrome 3, 3-m syndrome caused by mutation in ccdc8, 3-m syndrome, ccdc8-related, 3m syndrome 3, 3m3, C3280146, ccdc8, ccdc8 3-m syndrome, disease or syndrome, three m syndrome 3, three m syndrome type 3, autosomal dominant, autosomal recessive, birth defects, chromosomal disease, chromosome, clinical features, clinical findings, clinical genetics, clinical recommendations, clinvar, congenital chromosomal disease, consumer genetic resources, cytogenetic location, disease characteristics, disease definitions, disease descriptions, disease ontology, disease synonyms, disease vocabulary, dysmorphology, entrez, familial disease, gene, gene-disease relationship, genereviews, genetic disease, genetic disorder, genetic terminology, genetic testing registry, genetics home reference, genomic disease, gtr, hereditary disease, heritable disease, hpo, human phenotype ontology, inherited disease, management guidelines, maternal inheritance, medgen, medical genetics, medical subject headings, mesh, mitochondrial inheritance, mode of inheritance, national center for biotechnology information, national institutes of health, national library of medicine, ncbi, nih, nlm, omim, ordo, orphanet, paternal inheritance, phenome, position statements, professional practice guidelines, rare disease, reference sequence, refseq, snomed ct, syndrome, undiagnosed diseases, x-linked recessive" /><meta name="description" content="3-M syndrome is characterized by severe pre- and postnatal growth deficiency (final height five standard deviations below the mean), characteristic facies (relative macrocephaly, dolichocephaly, triangular face, midface retrusion, thick eyebrows, fleshy nasal tip, long philtrum, thick vermilion of the upper and low lips, and pointed chin), and normal intelligence. Additional features of 3-M syndrome include short, broad neck, prominent trapezii, pectus carinatum/excavatum, short thorax, square shoulders, winged scapulae, thoracic kyphoscoliosis, hyperlordosis, spina bifida occulta, clinodactyly of the fifth fingers, generalized or distal joint hypermobility, dislocated hips, prominent heels, and pes planus. Males with 3-M syndrome can have hypogonadism and occasionally hypospadias." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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||
UID=481776
|
||
ConceptID=C3280146
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">3M syndrome 3<span class="h1sub">(3M3)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>481776</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information."><span class="highlight" style="background-color:">C3280146</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>3-M Syndrome, CCDC8-Related; THREE M SYNDROME 3</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td><a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#target-gene-loc">Gene (location):<img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div class="display-none" id="target-gene-loc">
|
||
Gene(s) directly associated with<br />
|
||
this condition or phenotype.</div></td>
|
||
<td><a target="_blank" title="CCDC8 - ID: 83987 - NCBI Gene" href="/gene/83987" class="medgenPMinfo">CCDC8</a> (19q13.32)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0013627" target="_blank">MONDO:0013627</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/614205" target="_blank">614205</a></td></tr>
|
||
</tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
|
||
<div class="portlet mgSection" id="ID_101">
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||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Disease_characteristics">Disease characteristics</h1><a sid="101" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><div class="excerpt">Excerpted from the <i>GeneReview: </i><a href="/books/NBK1481" target="_blank">3-M Syndrome</a></div><div>3-M syndrome is characterized by severe pre- and postnatal growth deficiency (final height five standard deviations below the mean), characteristic facies (relative macrocephaly, dolichocephaly, triangular face, midface retrusion, thick eyebrows, fleshy nasal tip, long philtrum, thick vermilion of the upper and low lips, and pointed chin), and normal intelligence. Additional features of 3-M syndrome include short, broad neck, prominent trapezii, pectus carinatum/excavatum, short thorax, square shoulders, winged scapulae, thoracic kyphoscoliosis, hyperlordosis, spina bifida occulta, clinodactyly of the fifth fingers, generalized or distal joint hypermobility, dislocated hips, prominent heels, and pes planus. Males with 3-M syndrome can have hypogonadism and occasionally hypospadias. [from <a title="GeneReviews" href="https://www.ncbi.nlm.nih.gov/books/NBK1116" class="defSource" target="_blank">GeneReviews</a>]</div><div class="spaceAbove"><strong>Full text of <i>GeneReview</i> (by section):</strong><br /><a class="medgenPMinfo" href="/books/NBK1481#gr_3ms.Summary" target="NBK1481">Summary</a> | <a class="medgenPMinfo" href="/books/NBK1481#gr_3ms.Diagnosis" target="NBK1481">Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK1481#gr_3ms.Clinical_Characteristics" target="NBK1481">Clinical Characteristics</a> | <a class="medgenPMinfo" href="/books/NBK1481#gr_3ms.Genetically_Related_Allelic_Disor" target="NBK1481">Genetically Related (Allelic) Disorders</a> | <a class="medgenPMinfo" href="/books/NBK1481#gr_3ms.Differential_Diagnosis" target="NBK1481">Differential Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK1481#gr_3ms.Management" target="NBK1481">Management</a> | <a class="medgenPMinfo" href="/books/NBK1481#gr_3ms.Genetic_Counseling" target="NBK1481">Genetic Counseling</a> | <a class="medgenPMinfo" href="/books/NBK1481#gr_3ms.Resources" target="NBK1481">Resources</a> | <a class="medgenPMinfo" href="/books/NBK1481#gr_3ms.Molecular_Genetics" target="NBK1481">Molecular Genetics</a> | <a class="medgenPMinfo" href="/books/NBK1481#gr_3ms.Chapter_Notes" target="NBK1481">Chapter Notes</a> | <a class="medgenPMinfo" href="/books/NBK1481#gr_3ms.References" target="NBK1481">References</a></div><div class="spaceAbove"><strong>Authors:</strong><br />
|
||
Rhoda Akilapa | Melita Irving | Muriel Holder-Espinasse <a href="/books/NBK1481" target="NBK1481" title="NCBI Bookshelf: 3-M Syndrome">view full author information</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_117">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Additional_description">Additional description</h1><a sid="117" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><div class="mgSection"><strong>From OMIM</strong><br />3M syndrome is characterized by poor postnatal growth and distinctive facial features, including triangular facies, frontal bossing, fleshy tipped nose, and fleshy lips. Other features may include skeletal anomalies and prominent heels (summary by Hanson et al., 2011).
|
||
For a general phenotypic description and a discussion of genetic heterogeneity of 3M syndrome, see 3M1 (273750). <a target="_blank" href="http://www.omim.org/entry/614205">http://www.omim.org/entry/614205</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_102">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_features">Clinical features</h1><a sid="102" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
|
||
<div class="divPopper rprt" id="clin_340456"><div><strong>Clinodactyly of the 5th finger</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>340456</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1850049</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Clinodactyly refers to a bending or curvature of the fifth finger in the radial direction (i.e., towards the 4th finger).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/340456">Feature record</a> | <a href="/medgen?term=%22Clinodactyly%20of%20the%205th%20finger%22%5BClinical%20Features%5D%20OR%20340456%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_866740"><div><strong>Prominent calcaneus</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>866740</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4021088</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Protruding heel bone, or calcaneus.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/866740">Feature record</a> | <a href="/medgen?term=%22Prominent%20calcaneus%22%5BClinical%20Features%5D%20OR%20866740%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_65920"><div><strong>Small for gestational age</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>65920</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0235991</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Smaller than normal size according to sex and gestational age related norms, defined as a weight below the 10th percentile for the gestational age.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/65920">Feature record</a> | <a href="/medgen?term=%22Small%20for%20gestational%20age%22%5BClinical%20Features%5D%20OR%2065920%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_87607"><div><strong>Short stature</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>87607</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0349588</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/87607">Feature record</a> | <a href="/medgen?term=%22Short%20stature%22%5BClinical%20Features%5D%20OR%2087607%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_99124"><div><strong>Growth delay</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>99124</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0456070</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A deficiency or slowing down of growth pre- and postnatally.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/99124">Feature record</a> | <a href="/medgen?term=%22Growth%20delay%22%5BClinical%20Features%5D%20OR%2099124%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1806755"><div><strong>Decreased body weight</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1806755</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C5574742</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Abnormally low body weight.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1806755">Feature record</a> | <a href="/medgen?term=%22Decreased%20body%20weight%22%5BClinical%20Features%5D%20OR%201806755%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_343309"><div><strong>Protruding ear</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>343309</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1855285</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Angle formed by the plane of the ear and the mastoid bone greater than the 97th centile for age (objective); or, outer edge of the helix more than 2 cm from the mastoid at the point of maximum distance (objective).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/343309">Feature record</a> | <a href="/medgen?term=%22Protruding%20ear%22%5BClinical%20Features%5D%20OR%20343309%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_9805"><div><strong>Hyperlordosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>9805</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0024003</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Abnormally increased curvature (anterior concavity) of the lumbar or cervical spine.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/9805">Feature record</a> | <a href="/medgen?term=%22Hyperlordosis%22%5BClinical%20Features%5D%20OR%209805%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_67453"><div><strong>Frontal bossing</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>67453</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0221354</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/67453">Feature record</a> | <a href="/medgen?term=%22Frontal%20bossing%22%5BClinical%20Features%5D%20OR%2067453%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_65142"><div><strong>Dolichocephaly</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>65142</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0221358</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormality of skull shape characterized by a increased anterior-posterior diameter, i.e., an increased antero-posterior dimension of the skull. Cephalic index less than 76%. Alternatively, an apparently increased antero-posterior length of the head compared to width. Often due to premature closure of the sagittal suture.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/65142">Feature record</a> | <a href="/medgen?term=%22Dolichocephaly%22%5BClinical%20Features%5D%20OR%2065142%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_140876"><div><strong>Short thorax</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>140876</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0426789</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Reduced inferior to superior extent of the thorax.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/140876">Feature record</a> | <a href="/medgen?term=%22Short%20thorax%22%5BClinical%20Features%5D%20OR%20140876%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_331446"><div><strong>Slender long bone</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>331446</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1833144</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Reduced diameter of a long bone.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/331446">Feature record</a> | <a href="/medgen?term=%22Slender%20long%20bone%22%5BClinical%20Features%5D%20OR%20331446%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_336793"><div><strong>Joint hypermobility</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>336793</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1844820</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The capability that a joint (or a group of joints) has to move, passively and/or actively, beyond normal limits along physiological axes.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/336793">Feature record</a> | <a href="/medgen?term=%22Joint%20hypermobility%22%5BClinical%20Features%5D%20OR%20336793%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_400628"><div><strong>Increased vertebral height</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>400628</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1864853</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Increased top to bottom height of vertebral bodies.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/400628">Feature record</a> | <a href="/medgen?term=%22Increased%20vertebral%20height%22%5BClinical%20Features%5D%20OR%20400628%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1644158"><div><strong>Microcephaly</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1644158</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4551563</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Head circumference below 2 standard deviations below the mean for age and gender.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1644158">Feature record</a> | <a href="/medgen?term=%22Microcephaly%22%5BClinical%20Features%5D%20OR%201644158%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1640560"><div><strong>Developmental dysplasia of the hip</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1640560</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4551649</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Congenital dysplasia of the hip (CDH) is an abnormality of the seating of the femoral head in the acetabulum. Its severity ranges from mild instability of the femoral head with slight capsular laxity, through moderate lateral displacement of the femoral head, without loss of contact of the head with the acetabulum, up to complete dislocation of the femoral head from the acetabulum. It is one of the most common skeletal congenital anomalies (summary by Sollazzo et al., 2000). Acetabular dysplasia is an idiopathic, localized developmental dysplasia of the hip that is characterized by a shallow hip socket and decreased coverage of the femoral head. Its radiologic criteria include the center-edge angle of Wiberg, the Sharp angle, and the acetabular roof obliquity. Most patients with acetabular dysplasia develop osteoarthritis (165720) after midlife, and even mild acetabular dysplasia can cause hip osteoarthritis (summary by Mabuchi et al., 2006). CDH occurs as an isolated anomaly or with more general disorders represented by several syndromes and with chromosomal abnormalities such as trisomy 18 (Wynne-Davies, 1970). Genetic Heterogeneity of Developmental Dysplasia of the Hip Developmental dysplasia of the hip-1 (DDH1) maps to chromosome 13q22; DDH2 (615612) maps to chromosome 3p21. DDH3 (620690) is caused by mutation in the LRP1 gene (107770) on chromosome 12q13.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1640560">Feature record</a> | <a href="/medgen?term=%22Developmental%20dysplasia%20of%20the%20hip%22%5BClinical%20Features%5D%20OR%201640560%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_99267"><div><strong>Short neck</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>99267</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0521525</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Diminished length of the neck.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/99267">Feature record</a> | <a href="/medgen?term=%22Short%20neck%22%5BClinical%20Features%5D%20OR%2099267%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_324383"><div><strong>Triangular face</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>324383</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1835884</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Facial contour, as viewed from the front, triangular in shape, with breadth at the temples and tapering to a narrow chin.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/324383">Feature record</a> | <a href="/medgen?term=%22Triangular%20face%22%5BClinical%20Features%5D%20OR%20324383%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_332232"><div><strong>Thick vermilion border</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>332232</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1836543</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Increased width of the skin of vermilion border region of upper lip.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/332232">Feature record</a> | <a href="/medgen?term=%22Thick%20vermilion%20border%22%5BClinical%20Features%5D%20OR%20332232%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_326648"><div><strong>Anteverted nares</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>326648</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1840077</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Anteriorly-facing nostrils viewed with the head in the Frankfurt horizontal and the eyes of the observer level with the eyes of the subject. This gives the appearance of an upturned nose (upturned nasal tip).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/326648">Feature record</a> | <a href="/medgen?term=%22Anteverted%20nares%22%5BClinical%20Features%5D%20OR%20326648%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_336193"><div><strong>Pointed chin</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>336193</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1844505</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A marked tapering of the lower face to the chin.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/336193">Feature record</a> | <a href="/medgen?term=%22Pointed%20chin%22%5BClinical%20Features%5D%20OR%20336193%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_339938"><div><strong>Midface retrusion</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>339938</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1853242</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Posterior positions and/or vertical shortening of the infraorbital and perialar regions, or increased concavity of the face and/or reduced nasolabial angle.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/339938">Feature record</a> | <a href="/medgen?term=%22Midface%20retrusion%22%5BClinical%20Features%5D%20OR%20339938%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_383839"><div><strong>Prominent nasal tip</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>383839</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1856118</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/383839">Feature record</a> | <a href="/medgen?term=%22Prominent%20nasal%20tip%22%5BClinical%20Features%5D%20OR%20383839%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_351278"><div><strong>Long philtrum</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>351278</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1865014</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Distance between nasal base and midline upper lip vermilion border more than 2 SD above the mean. Alternatively, an apparently increased distance between nasal base and midline upper lip vermilion border.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/351278">Feature record</a> | <a href="/medgen?term=%22Long%20philtrum%22%5BClinical%20Features%5D%20OR%20351278%5Buid%5D">Search on this feature</a></div></div><div class="TreeLite" data-jigconfig="closed: 1"><div class="concept-def"><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().openAll(); return false;">Show all</a><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().closeAll(); return false;">Hide all</a></div><ul><li><span class="TLline">Abnormality of head or neck</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_326648" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Anteverted nares</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_351278" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Long philtrum</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_339938" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Midface retrusion</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_336193" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pointed chin</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_383839" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Prominent nasal tip</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_99267" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Short neck</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_332232" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Thick vermilion border</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_324383" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Triangular face</a></span></li></ul></li><li><span class="TLline">Abnormality of limbs</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_340456" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Clinodactyly of the 5th finger</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_866740" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Prominent calcaneus</a></span></li></ul></li><li><span class="TLline">Abnormality of the musculoskeletal system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1640560" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Developmental dysplasia of the hip</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_65142" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Dolichocephaly</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_67453" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Frontal bossing</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_9805" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hyperlordosis</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_400628" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Increased vertebral height</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_336793" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Joint hypermobility</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1644158" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Microcephaly</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_140876" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Short thorax</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_331446" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Slender long bone</a></span></li></ul></li><li><span class="TLline">Ear malformation</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_343309" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Protruding ear</a></span></li></ul></li><li><span class="TLline">Growth abnormality</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1806755" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Decreased body weight</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_99124" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Growth delay</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_87607" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Short stature</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_65920" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Small for gestational age</a></span></li></ul></li></ul></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_118">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1848862[DISCUI]&test_type=Clinical" ref="ncbi_uid=336440">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=336440" target="_blank" href="/omim/273750">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1481/" ref="ncbi_uid=336440">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=336440" ref="ncbi_uid=336440">V</a></span></span><span class="TLline"><a href="/medgen/336440" ref="tree=GTR&ncbi_uid=336440&link_uid=336440" title="View MedGen record for '3-M syndrome'">3-M syndrome</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C2678312[DISCUI]&test_type=Clinical" ref="ncbi_uid=395592">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=395592" target="_blank" href="/omim/273750">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1481/" ref="ncbi_uid=395592">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=395592" ref="ncbi_uid=395592">V</a></span></span><span class="TLline"><a href="/medgen/395592" ref="tree=GTR&ncbi_uid=395592&link_uid=395592" title="View MedGen record for '3M syndrome 1'">3M syndrome 1</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C2752041[DISCUI]&test_type=Clinical" ref="ncbi_uid=414168">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=414168" target="_blank" href="/omim/610991">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1481/" ref="ncbi_uid=414168">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=414168" ref="ncbi_uid=414168">V</a></span></span><span class="TLline"><a href="/medgen/414168" ref="tree=GTR&ncbi_uid=414168&link_uid=414168" title="View MedGen record for '3M syndrome 2'">3M syndrome 2</a></span></li><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3280146[DISCUI]&test_type=Clinical" ref="ncbi_uid=481776">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=481776" target="_blank" href="/omim/614145">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1481/" ref="ncbi_uid=481776">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=481776" ref="ncbi_uid=481776">V</a></span></span><span class="TLline">3M syndrome 3</span></li></ul></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/1842619" ref="tree=MeSH" title="MedGen record for Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability">Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability</a></span><ul><li><span class="TLline"><a href="/medgen/336440" ref="tree=MeSH" title="MedGen record for 3-M syndrome">3-M syndrome</a></span><ul><li><span class="matched_ds">3M syndrome 3</span></li></ul></li></ul></li></ul></div></div></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_105">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37673300">3M syndrome: Evaluating the clinical and laboratory features and the response of the growth hormone treatment: Single center experience.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Karacan Küçükali G,
|
||
Keskin M,
|
||
Aycan Z,
|
||
Savaş-Erdeve Ş,
|
||
Çetinkaya S</span><br />
|
||
<span class="medgenPMjournal">Eur J Med Genet</span>
|
||
2023 Oct;66(10):104828.
|
||
Epub 2023 Sep 4
|
||
doi: 10.1016/j.ejmg.2023.104828.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37673300" target="_blank">37673300</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34091447">Differential Diagnosis of the Short IGF-I-Deficient Child with Apparently Normal Growth Hormone Secretion.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wit JM,
|
||
Joustra SD,
|
||
Losekoot M,
|
||
van Duyvenvoorde HA,
|
||
de Bruin C</span><br />
|
||
<span class="medgenPMjournal">Horm Res Paediatr</span>
|
||
2021;94(3-4):81-104.
|
||
Epub 2021 Jun 4
|
||
doi: 10.1159/000516407.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34091447" target="_blank">34091447</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23900270">Clinical utility gene card for: 3-M syndrome - update 2013.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Holder-Espinasse M,
|
||
Irving M,
|
||
Cormier-Daire V</span><br />
|
||
<span class="medgenPMjournal">Eur J Hum Genet</span>
|
||
2014 Apr;22(4)
|
||
Epub 2013 Jul 31
|
||
doi: 10.1038/ejhg.2013.156.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23900270" target="_blank">23900270</a><a href="/pmc/articles/PMC3953895" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(3m%20syndrome%203)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (5)</a></div></div>
|
||
</div>
|
||
<div class="display-none help-popup" id="guidelinesHelpPM">These guidelines are articles in PubMed that match specific search criteria developed by MedGen to capture the most relevant practice guidelines. This list may not be comprehensive and may include broader topics as well. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div><div class="display-none help-popup" id="guidelinesHelpCurated">These guidelines are manually curated by the MedGen team
|
||
to supplement articles available in PubMed. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div>
|
||
<div class="portlet mgSection" id="ID_103">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_clinical_studies">Recent clinical studies</h1><a sid="103" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">Etiology</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35150935">3M syndrome: A Tunisian seven-cases series.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Khachnaoui-Zaafrane K,
|
||
Ouertani I,
|
||
Zanati A,
|
||
Kandara H,
|
||
Maazoul F,
|
||
Mrad R</span><br />
|
||
<span class="medgenPMjournal">Eur J Med Genet</span>
|
||
2022 Mar;65(3):104448.
|
||
Epub 2022 Feb 9
|
||
doi: 10.1016/j.ejmg.2022.104448.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35150935" target="_blank">35150935</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34597859">Natural history of facial and skeletal features from neonatal period to adulthood in a 3M syndrome cohort with biallelic CUL7 or OBSL1 variants.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tüysüz B,
|
||
Alp Ünkar Z,
|
||
Turan H,
|
||
Gezdirici A,
|
||
Uludağ Alkaya D,
|
||
Kasap B,
|
||
Yeşil G,
|
||
Vural M,
|
||
Ercan O</span><br />
|
||
<span class="medgenPMjournal">Eur J Med Genet</span>
|
||
2021 Dec;64(12):104346.
|
||
Epub 2021 Sep 28
|
||
doi: 10.1016/j.ejmg.2021.104346.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34597859" target="_blank">34597859</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34136918">Genetic Characterization of Short Stature Patients With Overlapping Features of Growth Hormone Insensitivity Syndromes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Andrews A,
|
||
Maharaj A,
|
||
Cottrell E,
|
||
Chatterjee S,
|
||
Shah P,
|
||
Denvir L,
|
||
Dumic K,
|
||
Bossowski A,
|
||
Mushtaq T,
|
||
Vukovic R,
|
||
Didi M,
|
||
Shaw N,
|
||
Metherell LA,
|
||
Savage MO,
|
||
Storr HL</span><br />
|
||
<span class="medgenPMjournal">J Clin Endocrinol Metab</span>
|
||
2021 Oct 21;106(11):e4716-e4733.
|
||
doi: 10.1210/clinem/dgab437.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34136918" target="_blank">34136918</a><a href="/pmc/articles/PMC8530715" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30980518">Further expanding the mutational spectrum and investigation of genotype-phenotype correlation in 3M syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Simsek-Kiper PO,
|
||
Taskiran E,
|
||
Kosukcu C,
|
||
Arslan UE,
|
||
Cormier-Daire V,
|
||
Gonc N,
|
||
Ozon A,
|
||
Alikasifoglu A,
|
||
Kandemir N,
|
||
Utine GE,
|
||
Alanay Y,
|
||
Alikasifoglu M,
|
||
Boduroglu K</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2019 Jul;179(7):1157-1172.
|
||
Epub 2019 Apr 13
|
||
doi: 10.1002/ajmg.a.61154.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30980518" target="_blank">30980518</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21383554">Hip dislocation in 3-M syndrome: risk of misdiagnosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Badina A,
|
||
Pejin Z,
|
||
Odent T,
|
||
Buzescu A,
|
||
Huber C,
|
||
Cormier-Daire V,
|
||
Glorion C,
|
||
Pannier S</span><br />
|
||
<span class="medgenPMjournal">Clin Dysmorphol</span>
|
||
2011 Apr;20(2):114-116.
|
||
doi: 10.1097/MCD.0b013e328343f958.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21383554" target="_blank">21383554</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%223M%20syndrome%203%22%20AND%20Etiology%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (9)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37673300">3M syndrome: Evaluating the clinical and laboratory features and the response of the growth hormone treatment: Single center experience.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Karacan Küçükali G,
|
||
Keskin M,
|
||
Aycan Z,
|
||
Savaş-Erdeve Ş,
|
||
Çetinkaya S</span><br />
|
||
<span class="medgenPMjournal">Eur J Med Genet</span>
|
||
2023 Oct;66(10):104828.
|
||
Epub 2023 Sep 4
|
||
doi: 10.1016/j.ejmg.2023.104828.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37673300" target="_blank">37673300</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34136918">Genetic Characterization of Short Stature Patients With Overlapping Features of Growth Hormone Insensitivity Syndromes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Andrews A,
|
||
Maharaj A,
|
||
Cottrell E,
|
||
Chatterjee S,
|
||
Shah P,
|
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Denvir L,
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Dumic K,
|
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Bossowski A,
|
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Mushtaq T,
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Vukovic R,
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Didi M,
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Shaw N,
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<div class="nl"><a target="_blank" href="/pubmed/22624670">Exploring the spectrum of 3-M syndrome, a primordial short stature disorder of disrupted ubiquitination.</a></div>
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Hanson D,
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<div class="nl"><a target="_blank" href="/pubmed/21383554">Hip dislocation in 3-M syndrome: risk of misdiagnosis.</a></div>
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Pejin Z,
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Odent T,
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<div class="nl"><a target="_blank" href="/pubmed/37673300">3M syndrome: Evaluating the clinical and laboratory features and the response of the growth hormone treatment: Single center experience.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Karacan Küçükali G,
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<div class="nl"><a target="_blank" href="/pubmed/33107243">The Effect of Combined Growth Hormone and a Gonadotropin-Releasing Hormone Agonist Therapy on Height in Korean 3-M Syndrome Siblings.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Lee IK,
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Lim HH,
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Kim YM</span><br />
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<span class="bold">PMID: </span><a href="/pubmed/33107243" target="_blank">33107243</a><a href="/pmc/articles/PMC7593105" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/32924381">Effect of recombinant human insulin-like growth factor 1 therapy in a child with 3-M syndrome-1 with CUL7 gene mutation.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Yang M,
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Patni N</span><br />
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2020 Dec 16;33(12):1609-1612.
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Epub 2020 Aug 17
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<span class="bold">PMID: </span><a href="/pubmed/32924381" target="_blank">32924381</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/23517720">3-M syndrome associated with growth hormone deficiency: 18 year follow-up of a patient.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Meazza C,
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Lausch E,
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Pagani S,
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Bozzola E,
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Calcaterra V,
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Superti-Furga A,
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Silengo M,
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2013 Mar 21;39:21.
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<span class="bold">PMID: </span><a href="/pubmed/23517720" target="_blank">23517720</a><a href="/pmc/articles/PMC3608257" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22624670">Exploring the spectrum of 3-M syndrome, a primordial short stature disorder of disrupted ubiquitination.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Clayton PE,
|
||
Hanson D,
|
||
Magee L,
|
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Murray PG,
|
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Saunders E,
|
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Abu-Amero SN,
|
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Moore GE,
|
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Black GC</span><br />
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<span class="medgenPMjournal">Clin Endocrinol (Oxf)</span>
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2012 Sep;77(3):335-42.
|
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doi: 10.1111/j.1365-2265.2012.04428.x.
|
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<span class="bold">PMID: </span><a href="/pubmed/22624670" target="_blank">22624670</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%223M%20syndrome%203%22%20AND%20Therapy%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (7)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/34136918">Genetic Characterization of Short Stature Patients With Overlapping Features of Growth Hormone Insensitivity Syndromes.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Andrews A,
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Maharaj A,
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Cottrell E,
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Chatterjee S,
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Shah P,
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Denvir L,
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Dumic K,
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Bossowski A,
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Mushtaq T,
|
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Vukovic R,
|
||
Didi M,
|
||
Shaw N,
|
||
Metherell LA,
|
||
Savage MO,
|
||
Storr HL</span><br />
|
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<span class="medgenPMjournal">J Clin Endocrinol Metab</span>
|
||
2021 Oct 21;106(11):e4716-e4733.
|
||
doi: 10.1210/clinem/dgab437.
|
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<span class="bold">PMID: </span><a href="/pubmed/34136918" target="_blank">34136918</a><a href="/pmc/articles/PMC8530715" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33107243">The Effect of Combined Growth Hormone and a Gonadotropin-Releasing Hormone Agonist Therapy on Height in Korean 3-M Syndrome Siblings.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lee IK,
|
||
Lim HH,
|
||
Kim YM</span><br />
|
||
<span class="medgenPMjournal">Yonsei Med J</span>
|
||
2020 Nov;61(11):981-985.
|
||
doi: 10.3349/ymj.2020.61.11.981.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33107243" target="_blank">33107243</a><a href="/pmc/articles/PMC7593105" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32141654">Identification of two CUL7 variants in two Chinese families with 3-M syndrome by whole-exome sequencing.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Hu L,
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Wang X,
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Jin T,
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Han Y,
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Liu J,
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Jiang M,
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Yan S,
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Fu X,
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An B,
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Huang S</span><br />
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2020 Jul;34(7):e23265.
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doi: 10.1002/jcla.23265.
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<span class="bold">PMID: </span><a href="/pubmed/32141654" target="_blank">32141654</a><a href="/pmc/articles/PMC7370744" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28806491">The association between dysregulated adipocytokines in early pregnancy and development of gestational diabetes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Abell SK,
|
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Shorakae S,
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Harrison CL,
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Hiam D,
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Moreno-Asso A,
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Stepto NK,
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De Courten B,
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Teede HJ</span><br />
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<span class="medgenPMjournal">Diabetes Metab Res Rev</span>
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2017 Nov;33(8)
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Epub 2017 Sep 15
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doi: 10.1002/dmrr.2926.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28806491" target="_blank">28806491</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23517720">3-M syndrome associated with growth hormone deficiency: 18 year follow-up of a patient.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Meazza C,
|
||
Lausch E,
|
||
Pagani S,
|
||
Bozzola E,
|
||
Calcaterra V,
|
||
Superti-Furga A,
|
||
Silengo M,
|
||
Bozzola M</span><br />
|
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<span class="medgenPMjournal">Ital J Pediatr</span>
|
||
2013 Mar 21;39:21.
|
||
doi: 10.1186/1824-7288-39-21.
|
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<span class="bold">PMID: </span><a href="/pubmed/23517720" target="_blank">23517720</a><a href="/pmc/articles/PMC3608257" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%223M%20syndrome%203%22%20AND%20Prognosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (7)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39643721">Clinical and molecular spectrum along with genotype-phenotype correlation of 25 patients diagnosed with 3 M syndrome: a study from Turkey.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Akalın A,
|
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Özalkak Ş,
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Yıldırım R,
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Karakaya AA,
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Kolbaşı B,
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Durmuşalioğlu EA,
|
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Kökali F,
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Ürel-Demir G,
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Öz V,
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Ünal E,
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Atik T,
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Şimşek-Kiper PÖ,
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Elcioglu NH</span><br />
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|
||
doi: 10.1007/s00431-024-05855-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39643721" target="_blank">39643721</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37673300">3M syndrome: Evaluating the clinical and laboratory features and the response of the growth hormone treatment: Single center experience.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Karacan Küçükali G,
|
||
Keskin M,
|
||
Aycan Z,
|
||
Savaş-Erdeve Ş,
|
||
Çetinkaya S</span><br />
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||
<span class="medgenPMjournal">Eur J Med Genet</span>
|
||
2023 Oct;66(10):104828.
|
||
Epub 2023 Sep 4
|
||
doi: 10.1016/j.ejmg.2023.104828.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37673300" target="_blank">37673300</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34597859">Natural history of facial and skeletal features from neonatal period to adulthood in a 3M syndrome cohort with biallelic CUL7 or OBSL1 variants.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tüysüz B,
|
||
Alp Ünkar Z,
|
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Turan H,
|
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Gezdirici A,
|
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Uludağ Alkaya D,
|
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Kasap B,
|
||
Yeşil G,
|
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Vural M,
|
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Ercan O</span><br />
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<span class="medgenPMjournal">Eur J Med Genet</span>
|
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2021 Dec;64(12):104346.
|
||
Epub 2021 Sep 28
|
||
doi: 10.1016/j.ejmg.2021.104346.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34597859" target="_blank">34597859</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30980518">Further expanding the mutational spectrum and investigation of genotype-phenotype correlation in 3M syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Simsek-Kiper PO,
|
||
Taskiran E,
|
||
Kosukcu C,
|
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Arslan UE,
|
||
Cormier-Daire V,
|
||
Gonc N,
|
||
Ozon A,
|
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Alikasifoglu A,
|
||
Kandemir N,
|
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Utine GE,
|
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Alanay Y,
|
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Alikasifoglu M,
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Boduroglu K</span><br />
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<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2019 Jul;179(7):1157-1172.
|
||
Epub 2019 Apr 13
|
||
doi: 10.1002/ajmg.a.61154.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30980518" target="_blank">30980518</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28806491">The association between dysregulated adipocytokines in early pregnancy and development of gestational diabetes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Abell SK,
|
||
Shorakae S,
|
||
Harrison CL,
|
||
Hiam D,
|
||
Moreno-Asso A,
|
||
Stepto NK,
|
||
De Courten B,
|
||
Teede HJ</span><br />
|
||
<span class="medgenPMjournal">Diabetes Metab Res Rev</span>
|
||
2017 Nov;33(8)
|
||
Epub 2017 Sep 15
|
||
doi: 10.1002/dmrr.2926.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28806491" target="_blank">28806491</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%223M%20syndrome%203%22%20AND%20Clinical%20prediction%20guides%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (10)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
<div id="messagearea_bottom">
|
||
|
||
</div>
|
||
<div class=" bottom">
|
||
|
||
</div>
|
||
|
||
</div>
|
||
</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
<div>
|
||
|
||
<!-- MedGen supplemental column starts here -->
|
||
<div class="rightCol mgCol">
|
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<div class="portlet mgSection" id="ID_113">
|
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul id="my-toc"></ul></div>
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</div>
|
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|
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<div class="portlet mgSection" id="ID_106">
|
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Genetic_Testing_Registry">Genetic Testing Registry</h1><a sid="106" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C3280146%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (8)</a></li>
|
||
<li><a href="/gtr/tests?term=C3280146%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (12)</a></li>
|
||
<li><a href="/gtr/tests?term=C3280146%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (3)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C3280146%5bDISCUI%5d" target="_blank">See all (13)</a></total></li>
|
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</ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_119">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_resources">Clinical resources</h1><a sid="119" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul><li><a href="https://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=614205" target="_blank">OMIM</a></li><li><a href="https://clinicaltrials.gov/search?cond=3M%20syndrome%203" target="_blank">ClinicalTrials.gov</a></li></ul></div>
|
||
</div>
|
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|
||
<div class="portlet mgSection" id="ID_121">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Practice_guidelines">Practice guidelines</h1><a sid="121" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
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<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(3m%20syndrome%203)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul></div>
|
||
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|
||
|
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<div class="portlet mgSection" id="ID_115">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Molecular_resources">Molecular resources</h1><a sid="115" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul><li><a href="http://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=614145" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=83987[geneid]" target="_blank">View CCDC8 variations in ClinVar</a></li><li><a href="https://catalog.coriell.org/Search?q=614205" target="_blank">Coriell Institute for Medical Research</a></li></ul></div>
|
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<div class="portlet_content ln"><ul><li><a href="https://www.malacards.org/card/three_m_syndrome_3" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=3M%20syndrome%203" target="_blank">MedlinePlus</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/15772/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</a></li></ul></div>
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<h3>Reviews</h3>
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<a href="/pubmed/20301654" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=3" target="_blank"><span class="gene_reviews">GeneReviews</span></a>
|
||
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|
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|
||
<a href="/pubmed/clinical?term=3M%20syndrome%203" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=3" target="_blank">PubMed Clinical Queries</a>
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|
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<a href="/pubmed?term=3M%20syndrome%203%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=3&linkpostotal=3" target="_blank">Reviews in PubMed</a>
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<a class="brieflinkpopperctrl" href="/clinvar?LinkName=medgen_clinvar&from_uid=481776" ref="log$=recordlinks">ClinVar</a>
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<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_genereviews&from_uid=481776" ref="log$=recordlinks">PubMed (GeneReviews)</a>
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<div class="brieflinkpop offscreen_noflow">GeneReviews in PubMed</div>
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Clear
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=1" href="/portal/utils/pageresolver.fcgi?recordid=67cc2a81a68b6b5afc78f6c3">3M syndrome 3</a>
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<div class="ralinkpop offscreen_noflow">3M syndrome 3<div class="brieflinkpopdesc"></div></div>
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<a class="htb" ref="log$=activity&linkpos=2" href="/portal/utils/pageresolver.fcgi?recordid=67cc2a7fa68b6b5afc78edb3">C3280146[conceptid] <span class="number">(1)</span></a>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=3" href="/portal/utils/pageresolver.fcgi?recordid=67cc2a7f84f3725e59408df8">C2752041[trait identifier] AND "Fulgent Genetics, Fulgent Genetic... <span class="number">(31)</span></a>
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<div class="ralinkpop offscreen_noflow">C2752041[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[submitter]<div class="brieflinkpopdesc">Search</div></div>
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<div class="tertiary">ClinVar</div>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=4" href="/portal/utils/pageresolver.fcgi?recordid=67cc2a7e84f3725e59408654">C2678312[trait identifier] AND "Fulgent Genetics, Fulgent Genetic... <span class="number">(25)</span></a>
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<div class="ralinkpop offscreen_noflow">C2678312[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[submitter]<div class="brieflinkpopdesc">Search</div></div>
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<div class="tertiary">ClinVar</div>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=5" href="/portal/utils/pageresolver.fcgi?recordid=67cc2a7da68b6b5afc78df82">C5676893[trait identifier] AND "Fulgent Genetics, Fulgent Genetic... <span class="number">(7)</span></a>
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<div class="ralinkpop offscreen_noflow">C5676893[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[submitter]<div class="brieflinkpopdesc">Search</div></div>
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<div class="tertiary">ClinVar</div>
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