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<!--
|
||
UID=140870
|
||
ConceptID=C0426428
|
||
-->
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<!--imgCountBooks = 0--><div class="ncbi_carousel" data-ncbicarousel-config="imageWidth:'100px',numItemsVisible:2,toggler:false"><div class="nc_header"><span class="img_strip_title">Image</span></div><div class="nc_content"><div class="nc_item"><a class="figpopup"><img alt="Figure 1" src="/projects/medgen/images/thumb/55d70204f2c9fd1c.1.thumb.jpg" src-large="/projects/medgen/images/55d70204f2c9fd1c.1.jpg" /></a><br /><a href="http://elementsofmorphology.nih.gov/index.cgi?tid=55d70204f2c9fd1c" target="_blank" title="Elements of Morphology: Human Malformation Terminology - NHGRI">details</a></div></div></div><h1 class="medgenTitle"><div class="MedGenTitleText">Bifid nasal tip</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>140870</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.">C0426428</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
||
<td>Bifid tip of nose</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Bifid nasal tip (249326006)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>HPO:</td>
|
||
<td><a target="_blank" title="Human Phenotype Ontology" href="https://hpo.jax.org/app/browse/term/HP:0000456">HP:0000456</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>
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<div class="portlet mgSection" id="ID_100">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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||
<div class="portlet_content ln">A splitting of the nasal tip. Visually assessable vertical indentation, cleft, or depression of the nasal tip. [from <a title="Human Phenotype Ontology" href="http://www.human-phenotype-ontology.org" class="defSource" target="_blank">HPO</a>]</div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0426428[DISCUI]&test_type=Clinical&redirect=true" ref="ncbi_uid=140870">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=140870" ref="ncbi_uid=140870">V</a></span></span><span class="TLline">Bifid nasal tip</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/867438" ref="tree=MeSH" title="MedGen record for Abnormality of the head">Abnormality of the head</a></span><ul><li><span class="TLline"><a href="/medgen/871375" ref="tree=MeSH" title="MedGen record for Abnormality of the face">Abnormality of the face</a></span><ul><li><span class="TLline"><a href="/medgen/539457" ref="tree=MeSH" title="MedGen record for Abnormality of the nose">Abnormality of the nose</a></span><ul><li><span class="TLline"><a href="/medgen/870795" ref="tree=MeSH" title="MedGen record for Abnormal nasal morphology">Abnormal nasal morphology</a></span><ul><li><span class="TLline"><a href="/medgen/869216" ref="tree=MeSH" title="MedGen record for Abnormal external nose morphology">Abnormal external nose morphology</a></span><ul><li><span class="TLline"><a href="/medgen/871358" ref="tree=MeSH" title="MedGen record for Abnormal nasal tip morphology">Abnormal nasal tip morphology</a></span><ul><li><span class="matched_ds">Bifid nasal tip</span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
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||
</div>
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<div class="portlet mgSection" id="ID_112">
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||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Conditions_with_this_feature">Conditions with this feature</h1><a sid="112" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln clinfeat">
|
||
<div class="divPopper rprt" id="rdis_10077"><div><strong>Mohr syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>10077</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.">C0026363</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Orofaciodigital syndrome II (OFD2), also known as Mohr syndrome, is characterized by cleft lip/palate, lobulated tongue with nodules, dental anomalies including tooth agenesis, maxillary hypoplasia, conductive hearing loss, and poly-, syn-, and brachydactyly. Mesomelic shortening of the limbs has also been observed (Mohr, 1941; Gorlin, 1982; Monroe et al., 2016).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/10077">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_65095"><div><strong>Craniofrontonasal syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>65095</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.">C0220767</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Craniofrontonasal syndrome is an X-linked developmental disorder that shows paradoxically greater severity in heterozygous females than in hemizygous males. Females have frontonasal dysplasia, craniofacial asymmetry, craniosynostosis, bifid nasal tip, grooved nails, wiry hair, and abnormalities of the thoracic skeleton, whereas males typically show only hypertelorism (Twigg et al., 2004; Wieland et al., 2004).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/65095">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_208667"><div><strong>Orofaciodigital syndrome VIII</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>208667</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.">C0796101</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Other features occur in only one or a few types of oral-facial digital syndrome. These features help distinguish the different forms of the disorder. For example, the most common form of oral-facial-digital syndrome, type I, is associated with polycystic kidney disease. This kidney disease is characterized by the growth of fluid-filled sacs (cysts) that interfere with the kidneys' ability to filter waste products from the blood. Other forms of oral-facial-digital syndrome are characterized by neurological problems, particular changes in the structure of the brain, bone abnormalities, vision loss, and heart defects.\n\nAbnormalities of the oral cavity that occur in many types of oral-facial-digital syndrome include a split (cleft) in the tongue, a tongue with an unusual lobed shape, and the growth of noncancerous tumors or nodules on the tongue. Affected individuals may also have extra, missing, or defective teeth. Another common feature is an opening in the roof of the mouth (a cleft palate). Some people with oral-facial-digital syndrome have bands of extra tissue (called hyperplastic frenula) that abnormally attach the lip to the gums.\n\nAbnormalities of the digits can affect both the fingers and the toes in people with oral-facial-digital syndrome. These abnormalities include fusion of certain fingers or toes (syndactyly), digits that are shorter than usual (brachydactyly), or digits that are unusually curved (clinodactyly). The presence of extra digits (polydactyly) is also seen in most forms of oral-facial-digital syndrome.\n\nDistinctive facial features often associated with oral-facial-digital syndrome include a split in the lip (a cleft lip); a wide nose with a broad, flat nasal bridge; and widely spaced eyes (hypertelorism).\n\nThe signs and symptoms of oral-facial-digital syndrome vary widely. However, most forms of this disorder involve problems with development of the oral cavity, facial features, and digits. Most forms are also associated with brain abnormalities and some degree of intellectual disability.\n\nResearchers have identified at least 13 potential forms of oral-facial-digital syndrome. The different types are classified by their patterns of signs and symptoms. However, the features of the various types overlap significantly, and some types are not well defined. The classification system for oral-facial-digital syndrome continues to evolve as researchers find more affected individuals and learn more about this disorder.\n\nOral-facial-digital syndrome is actually a group of related conditions that affect the development of the oral cavity (the mouth and teeth), facial features, and digits (fingers and toes).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/208667">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_162908"><div><strong>Orofaciodigital syndrome IX</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>162908</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.">C0796102</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Syndrome with characteristics of highly arched palate with bifid tongue and bilateral supernumerary lower canines, hamartomatous tongue, multiple frenula, hypertelorism, telecanthus, strabismus, broad and/or bifid nasal tip, short stature, bifid hallux, forked metatarsal, poly and syndactyly, mild intellectual deficit and specific retinal abnormalities (bilateral optic disc coloboma and retinal dysplasia with partial detachment). Less than ten cases have been described in the literature. The causative gene has not yet been identified.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/162908">Condition Record</a></div></div>
|
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<div class="divPopper rprt" id="rdis_923028"><div><strong>Elsahy-Waters syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>923028</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.">C0809936</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">The core phenotype of Elsahy-Waters syndrome consists of brachycephaly, facial asymmetry, marked hypertelorism, proptosis, blepharochalasis, midface hypoplasia, broad nose with concave nasal ridge, and prognathism; radicular dentin dysplasia with consequent obliterated pulp chambers, apical translucent cysts, recurrent infections, and early loss of teeth; vertebral fusions, particularly at C2-C3; and moderate mental retardation. Skin wrinkling over the glabellar region seems common, and in males, hypospadias has always been present. Inter- and intrafamilial variability has been reported regarding the presence of vertebral fusions, hearing loss, and dentigerous cysts. Midface hypoplasia, facial asymmetry, progressive dental anomalies, and impaired cognitive development become more evident in adulthood (summary by Castori et al., 2010).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/923028">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_330770"><div><strong>Microcephaly 6, primary, autosomal recessive</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>330770</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.">C1842109</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">People with MCPH usually have few or no other features associated with the condition. Some have a narrow, sloping forehead; mild seizures; problems with attention or behavior; or short stature compared to others in their family. The condition typically does not affect any other major organ systems or cause other health problems.\n\nInfants with MCPH have an unusually small head circumference compared to other infants of the same sex and age. Head circumference is the distance around the widest part of the head, measured by placing a measuring tape above the eyebrows and ears and around the back of the head. Affected infants' brain volume is also smaller than usual, although they usually do not have any major abnormalities in the structure of the brain. The head and brain grow throughout childhood and adolescence, but they continue to be much smaller than normal.\n\nMCPH causes intellectual disability, which is typically mild to moderate and does not become more severe with age. Most affected individuals have delayed speech and language skills. Motor skills, such as sitting, standing, and walking, may also be mildly delayed.\n\nAutosomal recessive primary microcephaly (often shortened to MCPH, which stands for "microcephaly primary hereditary") is a condition in which infants are born with a very small head and a small brain. The term "microcephaly" comes from the Greek words for "small head."</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/330770">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_337547"><div><strong>Oculofaciocardiodental syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>337547</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.">C1846265</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Oculofaciocardiodental (OFCD) syndrome is a condition that affects the development of the eyes (oculo-), facial features (facio-), heart (cardio-), and teeth (dental). \n\nThe eye abnormalities associated with OFCD syndrome can affect one or both eyes. Many people with this condition are born with eyeballs that are abnormally small (microphthalmia). Other eye problems can include clouding of the lens (cataract) and a high risk of glaucoma, an eye disease that increases the pressure in the eye. These abnormalities can lead to vision loss or blindness.\n\nPeople with OFCD syndrome often have a long, narrow face with distinctive facial features, including deep-set eyes, droopy eyelids (ptosis), and a nose with a high bridge and broad tip. Affected individuals may have a split (cleft) in their nose or in the roof of their mouth (cleft palate).\n\nHeart defects are another common feature of OFCD syndrome. Babies with this condition may be born with a hole between two chambers of the heart (an atrial or ventricular septal defect) or a leak in one of the valves that controls blood flow through the heart (mitral valve prolapse).\n\nTeeth with very large roots (radiculomegaly) are characteristic of OFCD syndrome. Additional dental abnormalities can include the delayed loss of primary (baby) teeth, missing or abnormally small teeth, delayed teething (dentition), misaligned teeth, and defective tooth enamel.\n\nIndividuals with OFCD syndrome can have additional features, such as skeletal abnormalities (typically affecting the toes), hearing loss, and intellectual disabilities. </div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/337547">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_383680"><div><strong>Oculotrichoanal syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>383680</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.">C1855425</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">FREM1 autosomal recessive disorders include Manitoba oculotrichoanal (MOTA) syndrome, bifid nose with or without anorectal and renal anomalies (BNAR syndrome), and isolated congenital anomalies of kidney and urinary tract (CAKUT). MOTA syndrome is characterized by an aberrant hairline (unilateral or bilateral wedge-shaped extension of the anterior hairline from the temple region to the ipsilateral eye) and anomalies of the eyes (widely spaced eyes, anophthalmia/microphthalmia and/or cryptophthalmos, colobomas of the upper eyelid, and corneopalpebral synechiae), nose (bifid or broad nasal tip), abdominal wall (omphalocele or umbilical hernia), and anus (stenosis and/or anterior displacement of the anal opening). The manifestations and degree of severity vary even among affected members of the same family. Growth and psychomotor development are normal. BNAR syndrome is characterized by a bifid or wide nasal tip, anorectal anomalies, and renal malformations (e.g., renal agenesis, renal dysplasia). Typically the eye manifestations of MOTA syndrome are absent. FREM1-CAKUT was identified in one individual with bilateral vesicoureteral reflux (VUR) and a second individual with VUR and renal hypodysplasia.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/383680">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_350933"><div><strong>Acromelic frontonasal dysostosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>350933</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.">C1863616</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">Verloes et al. (1992) described a rare variant of frontonasal dysplasia (see FND1, 136760), designated acromelic frontonasal dysplasia (AFND), in which similar craniofacial anomalies are associated with variable central nervous system malformations and limb defects including tibial hypoplasia/aplasia, talipes equinovarus, and preaxial polydactyly of the feet.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/350933">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_401129"><div><strong>Intellectual disability-balding-patella luxation-acromicria syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>401129</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.">C1866985</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">This syndrome has characteristics of severe intellectual deficit, patella luxations, acromicria, hypogonadism, facial dysmorphism (including midface hypoplasia and premature frontotemporal balding). It has been described in three unrelated males.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/401129">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_413823"><div><strong>Autosomal dominant omodysplasia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>413823</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.">C2750355</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">Omodysplasia-2 (OMOD2) is a rare autosomal dominant skeletal dysplasia characterized by shortened humeri, dislocated radial heads, shortened first metacarpals, craniofacial dysmorphism, and variable genitourinary anomalies (Saal et al., 2015). For a discussion of genetic heterogeneity of OMOD, see 258315.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/413823">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_462053"><div><strong>Frontonasal dysplasia with alopecia and genital anomaly</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>462053</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.">C3150703</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Frontonasal dysplasia-2 (FND2) is an autosomal recessive disorder characterized by variable degrees of alopecia, skull defects, hypertelorism, depressed nasal bridge and ridge with notched alae nasi, and abnormal central nervous system findings (summary by Kariminejad et al., 2014).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/462053">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_477078"><div><strong>Ogden syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>477078</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.">C3275447</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Ogden syndrome (OGDNS) is an X-linked neurodevelopmental disorder characterized by postnatal growth failure, severely delayed psychomotor development, variable dysmorphic features, and hypotonia. Many patients also have cardiac malformations or arrhythmias (summary by Popp et al., 2015).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/477078">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_501218"><div><strong>17q11.2 microduplication syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>501218</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.">C3495679</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Syndrome that has characteristics of dysmorphic features and intellectual deficit. It has been described in seven patients within one family. 17q11.2 microduplication encompasses the NF1 region. The underlying mechanism may be non-allelic homologous recombination. The study of pedigree suggests that this microduplication segregates within the family for at least two generations. Two patients displayed a normal clinical presentation, suggesting an autosomal dominant pattern of inheritance with incomplete penetrance.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/501218">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_904613"><div><strong>Even-plus syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>904613</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.">C4225180</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">EVEN-plus syndrome (EVPLS) is characterized by prenatal-onset short stature, vertebral and epiphyseal changes, microtia, midface hypoplasia with flat nose and triangular nares, cardiac malformations, and other findings including anal atresia, hypodontia, and aplasia cutis. The features overlap those reported in patients with CODAS syndrome (600373; Royer-Bertrand et al., 2015).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/904613">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_900671"><div><strong>Au-Kline syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>900671</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.">C4225274</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Au-Kline syndrome is characterized by developmental delay and hypotonia with moderate-to-severe intellectual disability, and typical facial features that include long palpebral fissures, ptosis, shallow orbits, large and deeply grooved tongue, broad nose with a wide nasal bridge, and downturned mouth. Congenital heart disease, hydronephrosis, palate abnormalities, and oligodontia are reported in the majority of affected individuals. Variable autonomic dysfunction (gastrointestinal dysmotility, high pain threshold, heat intolerance, recurrent fevers, abnormal sweating) is found in more than one third of affected individuals. Additional complications can include craniosynostosis, feeding difficulty, vision issues, hearing loss, osteopenia, and other skeletal anomalies. Epilepsy and brain malformations are rare.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/900671">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_897567"><div><strong>Zimmermann-Laband syndrome 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>897567</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.">C4225321</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Zimmerman-Laband syndrome is a developmental disorder characterized by facial dysmorphism with gingival enlargement, bulbous soft nose, and think floppy ears, nail aplasia or hypoplasia, hypertrichosis, joint hypertextensibility, hepato(spleno)megaly, and impaired intellectual development with or without epilepsy (summary by Kortum et al., 2015). For a general phenotypic description and a discussion of genetic heterogeneity of Zimmermann-Laband syndrome, see ZLS1 (135500).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/897567">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_903767"><div><strong>Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>903767</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.">C4225396</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Arboleda-Tham syndrome (ARTHS) is an autosomal dominant disorder with the core features of impaired intellectual development, speech delay, microcephaly, cardiac anomalies, and gastrointestinal complications (summary by Kennedy et al., 2019).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/903767">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_934784"><div><strong>Intellectual disability, X-linked 104</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>934784</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.">C4310817</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the FRMPD4 gene.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/934784">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1794324"><div><strong>Chromosome 1p36 deletion syndrome, proximal</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1794324</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.">C5562114</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Proximal 1p36 deletion syndrome is a multisystem developmental disorder characterized by global developmental delay with impaired intellectual development, poor overall growth with microcephaly, axial hypotonia, and dysmorphic facial features. Most patients have congenital cardiac malformations or cardiac dysfunction. Additional more variable features may include distal skeletal anomalies, seizures, and cleft palate. The phenotype shows some overlap with distal chromosome 1p36 deletion syndrome (summary by Kang et al., 2007).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1794324">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1803615"><div><strong>Frontorhiny</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1803615</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.">C5574965</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A distinct syndromic type of frontonasal malformation with characteristics of hypertelorism, wide nasal bridge, broad columella, widened philtrum, widely separated narrow nares, poor development of nasal tip, midline notch of the upper alveolus, columella base swellings and a low hairline. Additional features reported in some include upper eyelid ptosis and midline dermoid cysts of craniofacial structures and philtral pits or rugose folding behind the ears.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1803615">Condition Record</a></div></div>
|
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<div class="divPopper rprt" id="rdis_1810348"><div><strong>Tessadori-van Haaften neurodevelopmental syndrome 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1810348</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C5676922</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Tessadori-Bicknell-van Haaften neurodevelopmental syndrome-1 (TEBIVANED1) is characterized by poor overall growth with short stature, microcephaly, hypotonia, profound global developmental delay often with poor or absent speech, and characteristic dysmorphic facial features, including hypertelorism and abnormal nose. Other variable neurologic and systemic features may also occur (Tessadori et al., 2017). Genetic Heterogeneity of Tessadori-van Haaften Neurodevelopmental Syndrome See also TEBIVANED2 (619759), caused by mutation in the H4C11 gene (602826); TEBIVANED3 (619950), caused by mutation in the H4C5 gene (602830); and TEBIVANED4 (619951), caused by mutation in the H4C9 gene (602833).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1810348">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1824021"><div><strong>Orofaciodigital syndrome 19</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1824021</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.">C5774248</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Orofaciodigital syndrome XIX (OFD19) is an autosomal recessive ciliopathy characterized by tongue nodules; dental anomalies including congenital absence or abnormal shape of incisors; narrow, high-arched or cleft palate; retrognathia; and digital anomalies. Some patients have notching of the upper or lower lip (Iturrate et al., 2022).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1824021">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1854654"><div><strong>Neurodevelopmental disorder with hypotonia, brain anomalies, distinctive facies, and absent language</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1854654</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.">C5935628</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">ReNU syndrome (RENU), also known as neurodevelopmental disorder with hypotonia, brain anomalies, distinctive facies, and absent language (NEDHAFA), is characterized by hypotonia, global developmental delay, severely impaired intellectual development with poor or absent speech, delayed walking or inability to walk, feeding difficulties with poor overall growth, seizures (in most), dysmorphic facial features, and brain anomalies, including ventriculomegaly, thin corpus callosum, and progressive white matter loss (Greene et al., 2024; Schot et al., 2024; Chen et al., 2024).</div>
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||
<div class="spaceAbove nowrap">See: <a href="/medgen/1854654">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_501218" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">17q11.2 microduplication syndrome</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_350933" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Acromelic frontonasal dysostosis</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_900671" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Au-Kline syndrome</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_903767" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_413823" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal dominant omodysplasia</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (24)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1794324" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Chromosome 1p36 deletion syndrome, proximal</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_65095" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Craniofrontonasal syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_923028" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Elsahy-Waters syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_904613" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Even-plus syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_462053" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Frontonasal dysplasia with alopecia and genital anomaly</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1803615" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Frontorhiny</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_934784" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Intellectual disability, X-linked 104</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_401129" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Intellectual disability-balding-patella luxation-acromicria syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_330770" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Microcephaly 6, primary, autosomal recessive</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_10077" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mohr syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1854654" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neurodevelopmental disorder with hypotonia, brain anomalies, distinctive facies, and absent language</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_337547" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Oculofaciocardiodental syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_383680" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Oculotrichoanal syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_477078" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ogden syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1824021" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Orofaciodigital syndrome 19</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_162908" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Orofaciodigital syndrome IX</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_208667" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Orofaciodigital syndrome VIII</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1810348" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Tessadori-van Haaften neurodevelopmental syndrome 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_897567" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Zimmermann-Laband syndrome 2</a></div></span></div></div>
|
||
</div>
|
||
<div class="display-none help-popup" id="guidelinesHelpPM">These guidelines are articles in PubMed that match specific search criteria developed by MedGen to capture the most relevant practice guidelines. This list may not be comprehensive and may include broader topics as well. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div><div class="display-none help-popup" id="guidelinesHelpCurated">These guidelines are manually curated by the MedGen team
|
||
to supplement articles available in PubMed. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div>
|
||
<div class="portlet mgSection" id="ID_103">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_clinical_studies">Recent clinical studies</h1><a sid="103" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">Etiology</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/34402319">Nasal Reconstruction of a Frontonasal Dysplasia via Septal L-Strut Reconstruction Using Costal Cartilage.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kim YB,
|
||
Nam SM,
|
||
Park ES,
|
||
Choi CY,
|
||
Cha HG,
|
||
Kim JH</span><br />
|
||
<span class="medgenPMjournal">Cleft Palate Craniofac J</span>
|
||
2022 Oct;59(10):1306-1313.
|
||
Epub 2021 Aug 17
|
||
doi: 10.1177/10556656211036614.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34402319" target="_blank">34402319</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Bifid%20nasal%20tip%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 (1)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39788453">A family with an atypical presentation of TBX3-related disorder.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Osman K,
|
||
Asaly A,
|
||
Halloun R,
|
||
Paperna T,
|
||
Pollack S,
|
||
Magen D,
|
||
Tiosano D,
|
||
Weiss K</span><br />
|
||
<span class="medgenPMjournal">Eur J Med Genet</span>
|
||
2025 Feb;73:104994.
|
||
Epub 2025 Jan 7
|
||
doi: 10.1016/j.ejmg.2025.104994.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39788453" target="_blank">39788453</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37353237">Bilateral cryptophthalmos with overlapping features of Manitoba oculo-tricho-anal (MOTA) syndrome and Fraser syndrome 2.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mwipopo E,
|
||
Massomo MM,
|
||
Moshiro R,
|
||
Manji KP</span><br />
|
||
<span class="medgenPMjournal">BMJ Case Rep</span>
|
||
2023 Jun 23;16(6)
|
||
doi: 10.1136/bcr-2022-252618.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37353237" target="_blank">37353237</a><a href="/pmc/articles/PMC10314527" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30875852">Oculo-Facio-Cardio-Dental Syndrome: A Case Report about a Rare Pathological Condition.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Martinho J,
|
||
Ferreira H,
|
||
Paulo S,
|
||
Paula A,
|
||
Marto CM,
|
||
Carrilho E,
|
||
Marques-Ferreira M</span><br />
|
||
<span class="medgenPMjournal">Int J Environ Res Public Health</span>
|
||
2019 Mar 14;16(6)
|
||
doi: 10.3390/ijerph16060928.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30875852" target="_blank">30875852</a><a href="/pmc/articles/PMC6466113" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29383834">Nonsense mutations in FZD2 cause autosomal-dominant omodysplasia: Robinow syndrome-like phenotypes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nagasaki K,
|
||
Nishimura G,
|
||
Kikuchi T,
|
||
Nyuzuki H,
|
||
Sasaki S,
|
||
Ogawa Y,
|
||
Saitoh A</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2018 Mar;176(3):739-742.
|
||
Epub 2018 Jan 31
|
||
doi: 10.1002/ajmg.a.38623.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29383834" target="_blank">29383834</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11310993">A new familial syndrome with facial abnormalities, abnormal EEG, and mental retardation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mégarbané A</span><br />
|
||
<span class="medgenPMjournal">Clin Dysmorphol</span>
|
||
2001 Apr;10(2):129-33.
|
||
doi: 10.1097/00019605-200104000-00010.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11310993" target="_blank">11310993</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Bifid%20nasal%20tip%22%20AND%20Diagnosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (7)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/29215096">Exome sequencing revealed a novel nonsense variant in ALX3 gene underlying frontorhiny.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ullah A,
|
||
Umair M,
|
||
E-Kalsoom U,
|
||
Shahzad S,
|
||
Basit S,
|
||
Ahmad W</span><br />
|
||
<span class="medgenPMjournal">J Hum Genet</span>
|
||
2018 Jan;63(1):97-100.
|
||
Epub 2017 Nov 16
|
||
doi: 10.1038/s10038-017-0358-y.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29215096" target="_blank">29215096</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21419309">Endodontic management in oculo-facio-cardio-dental syndrome: a case report.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pace R,
|
||
Giuliani V,
|
||
Pagavino G</span><br />
|
||
<span class="medgenPMjournal">J Endod</span>
|
||
2011 Apr;37(4):558-61.
|
||
doi: 10.1016/j.joen.2010.12.015.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21419309" target="_blank">21419309</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Bifid%20nasal%20tip%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 (2)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/30875852">Oculo-Facio-Cardio-Dental Syndrome: A Case Report about a Rare Pathological Condition.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Martinho J,
|
||
Ferreira H,
|
||
Paulo S,
|
||
Paula A,
|
||
Marto CM,
|
||
Carrilho E,
|
||
Marques-Ferreira M</span><br />
|
||
<span class="medgenPMjournal">Int J Environ Res Public Health</span>
|
||
2019 Mar 14;16(6)
|
||
doi: 10.3390/ijerph16060928.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30875852" target="_blank">30875852</a><a href="/pmc/articles/PMC6466113" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21419309">Endodontic management in oculo-facio-cardio-dental syndrome: a case report.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pace R,
|
||
Giuliani V,
|
||
Pagavino G</span><br />
|
||
<span class="medgenPMjournal">J Endod</span>
|
||
2011 Apr;37(4):558-61.
|
||
doi: 10.1016/j.joen.2010.12.015.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21419309" target="_blank">21419309</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20734337">A novel EFNB1 mutation (c.712delG) in a family with craniofrontonasal syndrome and diaphragmatic hernia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hogue J,
|
||
Shankar S,
|
||
Perry H,
|
||
Patel R,
|
||
Vargervik K,
|
||
Slavotinek A</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2010 Oct;152A(10):2574-7.
|
||
doi: 10.1002/ajmg.a.33596.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20734337" target="_blank">20734337</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19692347">ALX4 dysfunction disrupts craniofacial and epidermal development.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kayserili H,
|
||
Uz E,
|
||
Niessen C,
|
||
Vargel I,
|
||
Alanay Y,
|
||
Tuncbilek G,
|
||
Yigit G,
|
||
Uyguner O,
|
||
Candan S,
|
||
Okur H,
|
||
Kaygin S,
|
||
Balci S,
|
||
Mavili E,
|
||
Alikasifoglu M,
|
||
Haase I,
|
||
Wollnik B,
|
||
Akarsu NA</span><br />
|
||
<span class="medgenPMjournal">Hum Mol Genet</span>
|
||
2009 Nov 15;18(22):4357-66.
|
||
Epub 2009 Aug 19
|
||
doi: 10.1093/hmg/ddp391.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19692347" target="_blank">19692347</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19409524">Frontorhiny, a distinctive presentation of frontonasal dysplasia caused by recessive mutations in the ALX3 homeobox gene.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Twigg SR,
|
||
Versnel SL,
|
||
Nürnberg G,
|
||
Lees MM,
|
||
Bhat M,
|
||
Hammond P,
|
||
Hennekam RC,
|
||
Hoogeboom AJ,
|
||
Hurst JA,
|
||
Johnson D,
|
||
Robinson AA,
|
||
Scambler PJ,
|
||
Gerrelli D,
|
||
Nürnberg P,
|
||
Mathijssen IM,
|
||
Wilkie AO</span><br />
|
||
<span class="medgenPMjournal">Am J Hum Genet</span>
|
||
2009 May;84(5):698-705.
|
||
Epub 2009 Apr 30
|
||
doi: 10.1016/j.ajhg.2009.04.009.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19409524" target="_blank">19409524</a><a href="/pmc/articles/PMC2681074" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Bifid%20nasal%20tip%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/20734337">A novel EFNB1 mutation (c.712delG) in a family with craniofrontonasal syndrome and diaphragmatic hernia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hogue J,
|
||
Shankar S,
|
||
Perry H,
|
||
Patel R,
|
||
Vargervik K,
|
||
Slavotinek A</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2010 Oct;152A(10):2574-7.
|
||
doi: 10.1002/ajmg.a.33596.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20734337" target="_blank">20734337</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19692347">ALX4 dysfunction disrupts craniofacial and epidermal development.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kayserili H,
|
||
Uz E,
|
||
Niessen C,
|
||
Vargel I,
|
||
Alanay Y,
|
||
Tuncbilek G,
|
||
Yigit G,
|
||
Uyguner O,
|
||
Candan S,
|
||
Okur H,
|
||
Kaygin S,
|
||
Balci S,
|
||
Mavili E,
|
||
Alikasifoglu M,
|
||
Haase I,
|
||
Wollnik B,
|
||
Akarsu NA</span><br />
|
||
<span class="medgenPMjournal">Hum Mol Genet</span>
|
||
2009 Nov 15;18(22):4357-66.
|
||
Epub 2009 Aug 19
|
||
doi: 10.1093/hmg/ddp391.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19692347" target="_blank">19692347</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19409524">Frontorhiny, a distinctive presentation of frontonasal dysplasia caused by recessive mutations in the ALX3 homeobox gene.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Twigg SR,
|
||
Versnel SL,
|
||
Nürnberg G,
|
||
Lees MM,
|
||
Bhat M,
|
||
Hammond P,
|
||
Hennekam RC,
|
||
Hoogeboom AJ,
|
||
Hurst JA,
|
||
Johnson D,
|
||
Robinson AA,
|
||
Scambler PJ,
|
||
Gerrelli D,
|
||
Nürnberg P,
|
||
Mathijssen IM,
|
||
Wilkie AO</span><br />
|
||
<span class="medgenPMjournal">Am J Hum Genet</span>
|
||
2009 May;84(5):698-705.
|
||
Epub 2009 Apr 30
|
||
doi: 10.1016/j.ajhg.2009.04.009.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19409524" target="_blank">19409524</a><a href="/pmc/articles/PMC2681074" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10450866">Further evidence from two families that craniofrontonasal dysplasia maps to Xp22.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pulleyn LJ,
|
||
Winter RM,
|
||
Reardon W,
|
||
McKeown C,
|
||
Jones B,
|
||
Hayward R,
|
||
Evans R,
|
||
Malcolm S</span><br />
|
||
<span class="medgenPMjournal">Clin Genet</span>
|
||
1999 Jun;55(6):473-7.
|
||
doi: 10.1034/j.1399-0004.1999.550613.x.
|
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<span class="bold">PMID: </span><a href="/pubmed/10450866" target="_blank">10450866</a></div>
|
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