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<title>
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Entry
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- #180750 - ROBINOW-SORAUF SYNDROME
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- OMIM
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<div><a href="https://clinicaltrials.gov/search?cond=(ROBINOW-SORAUF SYNDROME) OR (TWIST1)" class="mim-tip-hint" title="Clinical Trials" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
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<div><a href="#mimEuroGentestFold" id="mimEuroGentestToggle" data-toggle="collapse" class="mim-tip-hint mimTriangleToggle" title="A list of European laboratories that offer genetic testing."><span id="mimEuroGentestToggleTriangle" class="small" style="margin-left: -0.8em;">►</span>EuroGentest</div>
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<div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=2780&Typ=Pat" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Robinow-Sorauf syndrome </a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=235&Typ=Pat" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Saethre-Chotzen syndrome </a></div>
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<div><a href="https://www.diseaseinfosearch.org/x/6344" class="mim-tip-hint" title="Network of disease-specific advocacy organizations, universities, private companies, government agencies, and public policy organizations." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Genetic Alliance', 'domain': 'diseaseinfosearch.org'})">Genetic Alliance</a></div>
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<div><a href="https://medlineplus.gov/genetics/condition/saethre-chotzen-syndrome" class="mim-tip-hint" title="Consumer-friendly information about the effects of genetic variation on human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MedlinePlus Genetics', 'domain': 'medlineplus.gov'})">MedlinePlus Genetics</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=180750[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></div>
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<div><a href="#mimOrphanetFold" id="mimOrphanetToggle" data-toggle="collapse" class="mim-tip-hint mimTriangleToggle" title="European reference portal for information on rare diseases and orphan drugs."><span id="mimOrphanetToggleTriangle" class="small" style="margin-left: -0.8em;">►</span>Orphanet</div>
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<div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=3106" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">Robinow-Sorauf syndrome</a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=794" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">Saethre-Chotzen syndrome</a></div>
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</div>
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<div><a href="https://www.possumcore.com/nuxeo/nxdoc/default/d08a1990-f533-4cac-8099-64e7d6160cd8/view_documents?source=omim" class="mim-tip-hint" title="A dysmorphology database of multiple malformations; metabolic, teratogenic, chromosomal, and skeletal syndromes; and their images." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'POSSUM', 'domain': 'possum.net.au'})">POSSUM</a></div>
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<div><a href="https://www.alliancegenome.org/disease/DOID:14768" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
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<div><a href="http://www.informatics.jax.org/disease/180750" class="mim-tip-hint" title="Phenotypes, alleles, and disease models from Mouse Genome Informatics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Phenotype', 'domain': 'informatics.jax.org'})">MGI Mouse Phenotype</a></div>
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<div><a href="https://omia.org/OMIA001224/" class="mim-tip-hint" title="Online Mendelian Inheritance in Animals (OMIA) is a database of genes, inherited disorders and traits in 191 animal species (other than human and mouse.)" target="_blank">OMIA</a></div>
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<div><a href="https://wormbase.org/resources/disease/DOID:14768" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Disease Ontology', 'domain': 'wormbase.org'})">Wormbase Disease Ontology</a></div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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<a id="title" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>ORPHA:</strong> 3106, 794<br />
|
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<strong>DO:</strong> 14768<br />
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">ICD+</a>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
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<span class="text-danger"><strong>#</strong></span>
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180750
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</span>
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</span>
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</div>
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</div>
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<div>
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<a id="preferredTitle" class="mim-anchor"></a>
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<h3>
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<span class="mim-font">
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ROBINOW-SORAUF SYNDROME
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</span>
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</h3>
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</div>
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<div>
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<br />
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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CRANIOSYNOSTOSIS-BIFID HALLUX SYNDROME<br />
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ACROCEPHALOSYNDACTYLY, ROBINOW-SORAUF TYPE
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="phenotypeMap" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>Phenotype-Gene Relationships</strong>
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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<th>
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Gene/Locus
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</th>
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<th>
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Gene/Locus <br /> MIM number
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td>
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<span class="mim-font">
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<a href="/geneMap/7/93?start=-3&limit=10&highlight=93">
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7p21.1
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</a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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Robinow-Sorauf syndrome
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/180750"> 180750 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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TWIST1
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/601622"> 601622 </a>
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<div class="btn-group ">
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<a href="/clinicalSynopsis/180750" class="btn btn-warning" role="button"> Clinical Synopsis </a>
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<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-warning dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimClinicalSynopsisFold" onclick="ga('send', 'event', 'Unfurl', 'ClinicalSynopsis', 'omim.org')">
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<span class="caret"></span>
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<span class="sr-only">Toggle Dropdown</span>
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</button>
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</div>
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<div class="btn-group">
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<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
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PheneGene Graphics <span class="caret"></span>
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</button>
|
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<ul class="dropdown-menu" style="width: 17em;">
|
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<li><a href="/graph/linear/180750" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
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<li><a href="/graph/radial/180750" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
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</ul>
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</div>
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<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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<div>
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<p />
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</div>
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<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
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<div class="small" style="margin: 5px">
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<div>
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<div>
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<span class="h5 mim-font">
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<strong> Facies </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<span class="mim-font">
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- Flat facies <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1853241&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1853241</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0012368" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0012368</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0012368" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0012368</a>]</span><br /> - Thin, long, pointed nose <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1863375&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1863375</a>]</span><br />
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</span>
|
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
|
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<strong> Eyes </strong>
|
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</span>
|
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</div>
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<div style="margin-left: 2em;">
|
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<span class="mim-font">
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|
- Shallow orbits <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1865244&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1865244</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000586" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000586</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000586" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000586</a>]</span><br /> - Hypertelorism <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/22006008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">22006008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q75.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q75.2</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/376.41" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">376.41</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0020534&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0020534</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000316" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000316</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000316" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000316</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=593a4d488f00bb03351a0ddffaf4ac9a" target="_blank" class="small mim-tip-eom" title="<img src="https://elementsofmorphology.nih.gov/images/terms/Eyes,Widely_Spaced-small.jpg"> <br/>Further Information: <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=593a4d488f00bb03351a0ddffaf4ac9a" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})">Elements of Morphology</a>"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br /> - Plagiocephaly (asymmetry of orbits) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1863374&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1863374</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/21850008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">21850008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q67.3" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q67.3</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001357" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001357</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=08b211e117df47040a00e5d6bf2db04c" target="_blank" class="small mim-tip-eom" title="<img src="https://elementsofmorphology.nih.gov/images/terms/Plagiocephaly-small.jpg"> <br/>Further Information: <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=08b211e117df47040a00e5d6bf2db04c" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})">Elements of Morphology</a>"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br /> - Strabismus <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/22066006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">22066006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H50.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H50.9</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/H50.40" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H50.40</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0038379&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0038379</a>, <a href="https://bioportal.bioontology.org/search?q=C2020541&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2020541</a>, <a href="https://bioportal.bioontology.org/search?q=C1423541&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1423541</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000486" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000486</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000486" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000486</a>]</span><br />
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</span>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
|
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<strong> Limbs </strong>
|
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</span>
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</div>
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<div style="margin-left: 2em;">
|
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<span class="mim-font">
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- Broad great toes <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1867131&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1867131</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0010055" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0010055</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0010055" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0010055</a>]</span><br /> - Duplicated great toe distal phalanx<br />
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</span>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
|
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<strong> Inheritance </strong>
|
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</span>
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</div>
|
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<div style="margin-left: 2em;">
|
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<span class="mim-font">
|
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|
|
- Autosomal dominant <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/263681008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">263681008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/771269000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">771269000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0443147&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0443147</a>, <a href="https://bioportal.bioontology.org/search?q=C1867440&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1867440</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span><br /> - ? same as Saethre-Chotzen syndrome<br />
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</span>
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</div>
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</div>
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<div class="text-right">
|
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<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
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</div>
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</div>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="text" class="mim-anchor"></a>
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<h4 href="#mimTextFold" id="mimTextToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimTextToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
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<strong>TEXT</strong>
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</span>
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</span>
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</h4>
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<span class="mim-text-font">
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<p>A number sign (#) is used with this entry because of evidence that Robinow-Sorauf syndrome is caused by heterozygous mutation in the TWIST gene (TWIST1; <a href="/entry/601622">601622</a>) on chromosome 7p21. Some authors (e.g., <a href="#4" class="mim-tip-reference" title="Reardon, W., Winter, R. M. <strong>Saethre-Chotzen syndrome.</strong> J. Med. Genet. 31: 393-396, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8064818/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8064818</a>] [<a href="https://doi.org/10.1136/jmg.31.5.393" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8064818">Reardon and Winter, 1994</a>) have suggested that the disorder is not distinct, but part of the phenotypic spectrum of Saethre-Chotzen syndrome (SCS; <a href="/entry/101400">101400</a>), which is also caused mutations in TWIST1. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8064818" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<br />
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<div>
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<a id="clinicalFeatures" class="mim-anchor"></a>
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<h4 href="#mimClinicalFeaturesFold" id="mimClinicalFeaturesToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimClinicalFeaturesToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<p><a href="#2" class="mim-tip-reference" title="Carter, C. O., Till, K., Fraser, V., Coffey, R. <strong>A family study of craniosynostosis, with probable recognition of a distinct syndrome.</strong> J. Med. Genet. 19: 280-285, 1982.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7120316/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7120316</a>] [<a href="https://doi.org/10.1136/jmg.19.4.280" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7120316">Carter et al. (1982)</a> and <a href="#6" class="mim-tip-reference" title="Young, I. D., Harper, P. S. <strong>An unusual form of familial acrocephalosyndactyly.</strong> J. Med. Genet. 19: 286-288, 1982.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7120317/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7120317</a>] [<a href="https://doi.org/10.1136/jmg.19.4.286" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7120317">Young and Harper (1982)</a> described a distinct acrocephalosyndactyly syndrome that the first group of authors suggested be called the Robinow-Sorauf syndrome in recognition of the priority of description by those authors (<a href="#5" class="mim-tip-reference" title="Robinow, M., Sorauf, T. J. <strong>Acrocephalopolysyndactyly, type Noack, in a large kindred.</strong> Birth Defects Orig. Art. Ser. XI(5): 99-106, 1975.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1240778/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1240778</a>]" pmid="1240778">Robinow and Sorauf, 1975</a>). The patients were described by <a href="#2" class="mim-tip-reference" title="Carter, C. O., Till, K., Fraser, V., Coffey, R. <strong>A family study of craniosynostosis, with probable recognition of a distinct syndrome.</strong> J. Med. Genet. 19: 280-285, 1982.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7120316/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7120316</a>] [<a href="https://doi.org/10.1136/jmg.19.4.280" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7120316">Carter et al. (1982)</a> as having facies like those of the Saethre-Chotzen syndrome and bilaterally broad big toes owing to partial or complete duplication of the distal phalanx. The syndrome was considered distinct from the Pfeiffer syndrome (<a href="/entry/101600">101600</a>) in which the facies more nearly resembles Crouzon syndrome (<a href="/entry/123500">123500</a>) and in which the proximal phalanx of the big toe (and often of the thumb) is abnormal. Two instances of male-to-male transmission were noted in the family reported by <a href="#6" class="mim-tip-reference" title="Young, I. D., Harper, P. S. <strong>An unusual form of familial acrocephalosyndactyly.</strong> J. Med. Genet. 19: 286-288, 1982.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7120317/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7120317</a>] [<a href="https://doi.org/10.1136/jmg.19.4.286" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7120317">Young and Harper (1982)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7120316+7120317+1240778" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#4" class="mim-tip-reference" title="Reardon, W., Winter, R. M. <strong>Saethre-Chotzen syndrome.</strong> J. Med. Genet. 31: 393-396, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8064818/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8064818</a>] [<a href="https://doi.org/10.1136/jmg.31.5.393" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8064818">Reardon and Winter (1994)</a> reviewed observations leading them to suggest that it is 'unlikely that there is continued justification' for affording the Robinow-Sorauf syndrome an entry separate from that for Saethre-Chotzen syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8064818" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In a proband and his mother affected with Robinow-Sorauf syndrome, <a href="#3" class="mim-tip-reference" title="Kunz, J., Hudler, M., Fritz, B., Gillessen-Kaesbach, G., Passarge, E. <strong>Identification of a frameshift mutation in the gene TWIST in a family affected with Robinow-Sorauf syndrome.</strong> J. Med. Genet. 36: 650-652, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10465122/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10465122</a>]" pmid="10465122">Kunz et al. (1999)</a> reported a frameshift mutation in the TWIST gene (<a href="/entry/601622#0009">601622.0009</a>). The authors considered this mutation to be confirmation that the Saethre-Chotzen and Robinow-Sorauf syndromes are at least allelic, if not part of a clinical spectrum of the same condition. <a href="#1" class="mim-tip-reference" title="Cai, J., Shoo, B. A., Sorauf, T., Jabs, E. W. <strong>A novel mutation in th TWIST gene, implicated in Saethre-Chotzen syndrome, is found in the original case of Robinow-Sorauf syndrome. (Letter)</strong> Clin. Genet. 64: 79-82, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12791045/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12791045</a>] [<a href="https://doi.org/10.1034/j.1399-0004.2003.00098.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12791045">Cai et al. (2003)</a> suggested that the diagnosis of Robinow-Sorauf syndrome in the family reported by <a href="#3" class="mim-tip-reference" title="Kunz, J., Hudler, M., Fritz, B., Gillessen-Kaesbach, G., Passarge, E. <strong>Identification of a frameshift mutation in the gene TWIST in a family affected with Robinow-Sorauf syndrome.</strong> J. Med. Genet. 36: 650-652, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10465122/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10465122</a>]" pmid="10465122">Kunz et al. (1999)</a> could be questioned because the affected individuals lacked certain characteristics, such as syndactyly, that were found repeatedly in all members of the original Robinow-Sorauf pedigree. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=12791045+10465122" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#1" class="mim-tip-reference" title="Cai, J., Shoo, B. A., Sorauf, T., Jabs, E. W. <strong>A novel mutation in th TWIST gene, implicated in Saethre-Chotzen syndrome, is found in the original case of Robinow-Sorauf syndrome. (Letter)</strong> Clin. Genet. 64: 79-82, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12791045/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12791045</a>] [<a href="https://doi.org/10.1034/j.1399-0004.2003.00098.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12791045">Cai et al. (2003)</a> studied the original family reported by <a href="#5" class="mim-tip-reference" title="Robinow, M., Sorauf, T. J. <strong>Acrocephalopolysyndactyly, type Noack, in a large kindred.</strong> Birth Defects Orig. Art. Ser. XI(5): 99-106, 1975.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1240778/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1240778</a>]" pmid="1240778">Robinow and Sorauf (1975)</a> and found that the affected individuals were heterozygous for a 221C-T transition in the TWIST gene, resulting in a premature stop codon at amino acid position 71 (Q71X; <a href="#0012">180750.0012</a>). This novel nonsense mutation was 5-prime of the DNA-binding region where other nonsense mutations had been found in families with Saethre-Chotzen syndrome. <a href="#1" class="mim-tip-reference" title="Cai, J., Shoo, B. A., Sorauf, T., Jabs, E. W. <strong>A novel mutation in th TWIST gene, implicated in Saethre-Chotzen syndrome, is found in the original case of Robinow-Sorauf syndrome. (Letter)</strong> Clin. Genet. 64: 79-82, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12791045/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12791045</a>] [<a href="https://doi.org/10.1034/j.1399-0004.2003.00098.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12791045">Cai et al. (2003)</a> stated that they examined 3 of the 11 affected members of the original family in addition to the propositus and found that all had second interdigital syndactyly as well as a toe deformity (either polydactyly or hallux valgus). <a href="#1" class="mim-tip-reference" title="Cai, J., Shoo, B. A., Sorauf, T., Jabs, E. W. <strong>A novel mutation in th TWIST gene, implicated in Saethre-Chotzen syndrome, is found in the original case of Robinow-Sorauf syndrome. (Letter)</strong> Clin. Genet. 64: 79-82, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12791045/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12791045</a>] [<a href="https://doi.org/10.1034/j.1399-0004.2003.00098.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12791045">Cai et al. (2003)</a> stated that the reported 'Robinow-Sorauf' families are examples of variable expression of the TWIST mutant phenotype and provide further proof that the 'Robinow-Sorauf' syndrome lies within the spectrum of the SCS syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=12791045+1240778" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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Cai, J., Shoo, B. A., Sorauf, T., Jabs, E. W.
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<strong>A novel mutation in th TWIST gene, implicated in Saethre-Chotzen syndrome, is found in the original case of Robinow-Sorauf syndrome. (Letter)</strong>
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Clin. Genet. 64: 79-82, 2003.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12791045/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12791045</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12791045" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1034/j.1399-0004.2003.00098.x" target="_blank">Full Text</a>]
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Carter, C. O., Till, K., Fraser, V., Coffey, R.
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<strong>A family study of craniosynostosis, with probable recognition of a distinct syndrome.</strong>
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J. Med. Genet. 19: 280-285, 1982.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7120316/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7120316</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7120316" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Kunz, J., Hudler, M., Fritz, B., Gillessen-Kaesbach, G., Passarge, E.
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<strong>Identification of a frameshift mutation in the gene TWIST in a family affected with Robinow-Sorauf syndrome.</strong>
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J. Med. Genet. 36: 650-652, 1999.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10465122/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10465122</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10465122" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Reardon, W., Winter, R. M.
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<strong>Saethre-Chotzen syndrome.</strong>
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J. Med. Genet. 31: 393-396, 1994.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8064818/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8064818</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8064818" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1136/jmg.31.5.393" target="_blank">Full Text</a>]
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Robinow, M., Sorauf, T. J.
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<strong>Acrocephalopolysyndactyly, type Noack, in a large kindred.</strong>
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Birth Defects Orig. Art. Ser. XI(5): 99-106, 1975.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1240778/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1240778</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1240778" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Young, I. D., Harper, P. S.
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<strong>An unusual form of familial acrocephalosyndactyly.</strong>
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J. Med. Genet. 19: 286-288, 1982.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7120317/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7120317</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7120317" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1136/jmg.19.4.286" target="_blank">Full Text</a>]
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Victor A. McKusick - updated : 7/18/2003
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Victor A. McKusick - updated : 2/22/2000<br>Michael J. Wright - updated : 10/27/1999
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Victor A. McKusick : 6/2/1986
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carol : 11/15/2019
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carol : 03/10/2015<br>carol : 2/11/2011<br>cwells : 7/30/2003<br>terry : 7/18/2003<br>mcapotos : 3/22/2000<br>mcapotos : 3/14/2000<br>terry : 2/22/2000<br>alopez : 10/27/1999<br>mimadm : 3/25/1995<br>carol : 9/23/1994<br>supermim : 3/16/1992<br>supermim : 3/20/1990<br>ddp : 10/27/1989<br>marie : 3/25/1988
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<strong>#</strong> 180750
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ROBINOW-SORAUF SYNDROME
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<em>Alternative titles; symbols</em>
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CRANIOSYNOSTOSIS-BIFID HALLUX SYNDROME<br />
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ACROCEPHALOSYNDACTYLY, ROBINOW-SORAUF TYPE
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<strong>ORPHA:</strong> 3106, 794;
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<strong>DO:</strong> 14768;
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<strong>Phenotype-Gene Relationships</strong>
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Location
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Phenotype
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Phenotype <br /> MIM number
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Inheritance
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Phenotype <br /> mapping key
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Gene/Locus <br /> MIM number
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<span class="mim-font">
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7p21.1
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<span class="mim-font">
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Robinow-Sorauf syndrome
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<span class="mim-font">
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180750
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<span class="mim-font">
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Autosomal dominant
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<span class="mim-font">
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3
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<span class="mim-font">
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TWIST1
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<span class="mim-font">
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601622
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because of evidence that Robinow-Sorauf syndrome is caused by heterozygous mutation in the TWIST gene (TWIST1; 601622) on chromosome 7p21. Some authors (e.g., Reardon and Winter, 1994) have suggested that the disorder is not distinct, but part of the phenotypic spectrum of Saethre-Chotzen syndrome (SCS; 101400), which is also caused mutations in TWIST1. </p>
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<strong>Clinical Features</strong>
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<p>Carter et al. (1982) and Young and Harper (1982) described a distinct acrocephalosyndactyly syndrome that the first group of authors suggested be called the Robinow-Sorauf syndrome in recognition of the priority of description by those authors (Robinow and Sorauf, 1975). The patients were described by Carter et al. (1982) as having facies like those of the Saethre-Chotzen syndrome and bilaterally broad big toes owing to partial or complete duplication of the distal phalanx. The syndrome was considered distinct from the Pfeiffer syndrome (101600) in which the facies more nearly resembles Crouzon syndrome (123500) and in which the proximal phalanx of the big toe (and often of the thumb) is abnormal. Two instances of male-to-male transmission were noted in the family reported by Young and Harper (1982). </p><p>Reardon and Winter (1994) reviewed observations leading them to suggest that it is 'unlikely that there is continued justification' for affording the Robinow-Sorauf syndrome an entry separate from that for Saethre-Chotzen syndrome. </p>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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<p>In a proband and his mother affected with Robinow-Sorauf syndrome, Kunz et al. (1999) reported a frameshift mutation in the TWIST gene (601622.0009). The authors considered this mutation to be confirmation that the Saethre-Chotzen and Robinow-Sorauf syndromes are at least allelic, if not part of a clinical spectrum of the same condition. Cai et al. (2003) suggested that the diagnosis of Robinow-Sorauf syndrome in the family reported by Kunz et al. (1999) could be questioned because the affected individuals lacked certain characteristics, such as syndactyly, that were found repeatedly in all members of the original Robinow-Sorauf pedigree. </p><p>Cai et al. (2003) studied the original family reported by Robinow and Sorauf (1975) and found that the affected individuals were heterozygous for a 221C-T transition in the TWIST gene, resulting in a premature stop codon at amino acid position 71 (Q71X; 180750.0012). This novel nonsense mutation was 5-prime of the DNA-binding region where other nonsense mutations had been found in families with Saethre-Chotzen syndrome. Cai et al. (2003) stated that they examined 3 of the 11 affected members of the original family in addition to the propositus and found that all had second interdigital syndactyly as well as a toe deformity (either polydactyly or hallux valgus). Cai et al. (2003) stated that the reported 'Robinow-Sorauf' families are examples of variable expression of the TWIST mutant phenotype and provide further proof that the 'Robinow-Sorauf' syndrome lies within the spectrum of the SCS syndrome. </p>
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</span>
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<div>
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<h4>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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</span>
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</h4>
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<div>
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<p />
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<ol>
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<li>
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<p class="mim-text-font">
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Cai, J., Shoo, B. A., Sorauf, T., Jabs, E. W.
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<strong>A novel mutation in th TWIST gene, implicated in Saethre-Chotzen syndrome, is found in the original case of Robinow-Sorauf syndrome. (Letter)</strong>
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Clin. Genet. 64: 79-82, 2003.
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[PubMed: 12791045]
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[Full Text: https://doi.org/10.1034/j.1399-0004.2003.00098.x]
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</li>
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<li>
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<p class="mim-text-font">
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Carter, C. O., Till, K., Fraser, V., Coffey, R.
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<strong>A family study of craniosynostosis, with probable recognition of a distinct syndrome.</strong>
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J. Med. Genet. 19: 280-285, 1982.
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[PubMed: 7120316]
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[Full Text: https://doi.org/10.1136/jmg.19.4.280]
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</li>
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<li>
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<p class="mim-text-font">
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Kunz, J., Hudler, M., Fritz, B., Gillessen-Kaesbach, G., Passarge, E.
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<strong>Identification of a frameshift mutation in the gene TWIST in a family affected with Robinow-Sorauf syndrome.</strong>
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J. Med. Genet. 36: 650-652, 1999.
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[PubMed: 10465122]
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<li>
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<p class="mim-text-font">
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Reardon, W., Winter, R. M.
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<strong>Saethre-Chotzen syndrome.</strong>
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J. Med. Genet. 31: 393-396, 1994.
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[PubMed: 8064818]
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[Full Text: https://doi.org/10.1136/jmg.31.5.393]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Robinow, M., Sorauf, T. J.
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<strong>Acrocephalopolysyndactyly, type Noack, in a large kindred.</strong>
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Birth Defects Orig. Art. Ser. XI(5): 99-106, 1975.
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[PubMed: 1240778]
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</p>
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<li>
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<p class="mim-text-font">
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Young, I. D., Harper, P. S.
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<strong>An unusual form of familial acrocephalosyndactyly.</strong>
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J. Med. Genet. 19: 286-288, 1982.
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[PubMed: 7120317]
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[Full Text: https://doi.org/10.1136/jmg.19.4.286]
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Contributors:
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</span>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Victor A. McKusick - updated : 7/18/2003<br>Victor A. McKusick - updated : 2/22/2000<br>Michael J. Wright - updated : 10/27/1999
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<span class="text-nowrap mim-text-font">
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Creation Date:
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</span>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Victor A. McKusick : 6/2/1986
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Edit History:
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 11/15/2019<br>carol : 03/10/2015<br>carol : 2/11/2011<br>cwells : 7/30/2003<br>terry : 7/18/2003<br>mcapotos : 3/22/2000<br>mcapotos : 3/14/2000<br>terry : 2/22/2000<br>alopez : 10/27/1999<br>mimadm : 3/25/1995<br>carol : 9/23/1994<br>supermim : 3/16/1992<br>supermim : 3/20/1990<br>ddp : 10/27/1989<br>marie : 3/25/1988
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information that you need at your fingertips.
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Thank you in advance for your generous support, <br />
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Ada Hamosh, MD, MPH <br />
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Scientific Director, OMIM <br />
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