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<meta name="keywords" content="C1856121, broad eyebrow, broad eyebrows, finding, flared eyebrow, flared eyebrows, increased vertical height of eyebrow, increased vertical thickness of eyebrow, increased vertical width of eyebrow, autosomal dominant, autosomal recessive, birth defects, chromosomal disease, chromosome, clinical features, clinical findings, clinical genetics, clinical recommendations, clinvar, congenital chromosomal disease, consumer genetic resources, cytogenetic location, disease characteristics, disease definitions, disease descriptions, disease ontology, disease synonyms, disease vocabulary, dysmorphology, entrez, familial disease, gene, gene-disease relationship, genereviews, genetic disease, genetic disorder, genetic terminology, genetic testing registry, genetics home reference, genomic disease, gtr, hereditary disease, heritable disease, hpo, human phenotype ontology, inherited disease, management guidelines, maternal inheritance, medgen, medical genetics, medical subject headings, mesh, mitochondrial inheritance, mode of inheritance, national center for biotechnology information, national institutes of health, national library of medicine, ncbi, nih, nlm, omim, ordo, orphanet, paternal inheritance, phenome, position statements, professional practice guidelines, rare disease, reference sequence, refseq, snomed ct, syndrome, undiagnosed diseases, x-linked recessive" /><meta name="description" content="Regional increase in the width (height) of the eyebrow." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
UID=344657
ConceptID=C1856121
-->
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Broad eyebrow</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>344657</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)&#10;Click for more information.">C1856121</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
<td>Broad eyebrows; Flared eyebrows</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:0011229">HP:0011229</a></td></tr>
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<div class="portlet mgSection" id="ID_100">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln">Regional increase in the width (height) of the eyebrow. [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>
<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="TLline">Broad eyebrow</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/871367" ref="tree=MeSH" title="MedGen record for Abnormality of the orbital region">Abnormality of the orbital region</a></span><ul><li><span class="TLline"><a href="/medgen/1670962" ref="tree=MeSH" title="MedGen record for Abnormality of the ocular adnexa">Abnormality of the ocular adnexa</a></span><ul><li><span class="TLline"><a href="/medgen/893067" ref="tree=MeSH" title="MedGen record for Abnormal ocular adnexa morphology">Abnormal ocular adnexa morphology</a></span><ul><li><span class="TLline"><a href="/medgen/859993" ref="tree=MeSH" title="MedGen record for Abnormal eyebrow morphology">Abnormal eyebrow morphology</a></span><ul><li><span class="matched_ds">Broad eyebrow</span><ul><li><span class="TLline"><a href="/medgen/332934" ref="tree=MeSH" title="MedGen record for Broad lateral eyebrow">Broad lateral eyebrow</a></span></li><li><span class="TLline"><a href="/medgen/1814112" ref="tree=MeSH" title="MedGen record for Broad medial eyebrow">Broad medial eyebrow</a></span></li><li><span class="TLline"><a href="/medgen/869291" ref="tree=MeSH" title="MedGen record for Extension of eyebrows towards upper eyelid">Extension of eyebrows towards upper eyelid</a></span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
</div>
<div class="portlet mgSection" id="ID_112">
<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_140806"><div><strong>Neonatal pseudo-hydrocephalic progeroid syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>140806</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)&#10;Click for more information.">C0406586</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Wiedemann-Rautenstrauch syndrome (WDRTS) is a rare autosomal recessive neonatal progeroid disorder characterized by intrauterine growth retardation, failure to thrive, short stature, a progeroid appearance, hypotonia, and variable mental impairment (summary by Toriello, 1990). Average survival in WDRTS is 7 months, although survival into the third decade of life has been reported (Akawi et al., 2013).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/140806">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_371416"><div><strong>Ayme-Gripp syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>371416</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)&#10;Click for more information.">C1832812</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Aymé-Gripp syndrome is classically defined as the triad of bilateral early cataracts, sensorineural hearing loss, and characteristic facial features in combination with neurodevelopmental abnormalities. The facial features are often described as "Down syndrome-like" and include brachycephaly, flat facial appearance, short nose, long philtrum, narrow mouth, and low-set and posteriorly rotated ears. Hearing loss is often congenital. Other features may include postnatal short stature, seizure disorder, nonspecific brain abnormalities on head imaging, skeletal abnormalities, and joint limitations. A subset of individuals have been found to have pericarditis or pericardial effusion during the neonatal or infantile period. All affected individuals have had developmental delay, but the degree of cognitive impairment is extremely variable. Other features including gastrointestinal and endocrine abnormalities, ectodermal dysplasia (i.e., nail dystrophy and mammary gland hypoplasia), dental anomalies, and chronic glomerulopathy with proteinuria have been reported in rare affected individuals.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/371416">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_336844"><div><strong>X-linked reticulate pigmentary disorder</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>336844</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)&#10;Click for more information.">C1845050</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">X-linked reticulate pigmentary disorder shows more severe manifestations in hemizygous males compared to heterozygous females. Affected males have early onset of recurrent respiratory infections and failure to thrive resulting from inflammatory gastroenteritis or colitis. Patients also show reticular pigmentation abnormalities of the skin and may develop corneal scarring. Carrier females may be unaffected or have only pigmentary abnormalities along the lines of Blaschko (summary by Starokadomskyy et al., 2016).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/336844">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_341067"><div><strong>Mowat-Wilson syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>341067</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)&#10;Click for more information."><span class="highlight" style="background-color:">C1856113</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Mowat-Wilson syndrome (MWS) is characterized by distinctive facial features (widely spaced eyes, broad eyebrows with a medial flare, low-hanging columella, prominent or pointed chin, open-mouth expression, and uplifted earlobes with a central depression), congenital heart defects with predilection for abnormalities of the pulmonary arteries and/or valves, Hirschsprung disease or chronic constipation, genitourinary anomalies (particularly hypospadias in males), and hypogenesis or agenesis of the corpus callosum. Most affected individuals have moderate-to-severe intellectual disability. Speech is typically limited to a few words or is absent, with relative preservation of receptive language skills. Growth restriction with microcephaly and seizure disorder are also common. Most affected people have a happy demeanor and a wide-based gait that can sometimes be confused with Angelman syndrome.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/341067">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_418932"><div><strong>Ramos-Arroyo syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>418932</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)&#10;Click for more information.">C2930866</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">An extremely rare genetic disorder characterized by corneal anesthesia, retinal abnormalities, bilateral hearing loss, distinct facies, patent ductus arteriosus, Hirschsprung disease, short stature and intellectual disability. The phenotype is variable. Some affected individuals have only mild disease manifestations. The etiology of this syndrome is not yet known. Mutations in an as of yet unidentified gene, involved in autonomic nervous system function, are suspected. Follows an autosomal dominant pattern of inheritance, probably with variable expressivity.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/418932">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_481757"><div><strong>Rafiq syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>481757</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)&#10;Click for more information.">C3280127</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Rafiq syndrome (RAFQS) is an autosomal recessive disorder characterized by variably impaired intellectual and motor development, a characteristic facial dysmorphism, truncal obesity, and hypotonia. The facial dysmorphism comprises prominent eyebrows with lateral thinning, downward-slanting palpebral fissures, bulbous tip of the nose, large ears, and a thin upper lip. Behavioral problems, including overeating, verbal and physical aggression, have been reported in some cases. Serum transferrin isoelectric focusing shows a type 2 pattern (summary by Balasubramanian et al., 2019).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/481757">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_934663"><div><strong>ZTTK syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>934663</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)&#10;Click for more information.">C4310696</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">ZTTK syndrome (ZTTKS) is a severe multisystem developmental disorder characterized by delayed psychomotor development and intellectual disability. Affected individuals have characteristic dysmorphic facial features, hypotonia, poor feeding, poor overall growth, and eye or visual abnormalities. Most patients also have musculoskeletal abnormalities, and some have congenital defects of the heart and urogenital system. Brain imaging usually shows developmental abnormalities such as gyral changes, cortical and/or cerebellar atrophy, and thin corpus callosum (summary by Kim et al., 2016).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/934663">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_934739"><div><strong>Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>934739</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)&#10;Click for more information.">C4310772</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">RERE-related disorders are characterized by neurodevelopmental problems with or without structural anomalies of the eyes, heart, kidneys, and genitourinary tract and mild sensorineural hearing loss. Hypotonia and feeding problems are common among affected individuals. Developmental delay and intellectual disability range from mild to profound. Behavior problems may include attention-deficit/hyperactivity disorder, self-injurious behavior, and autism spectrum disorder. A variety of eye anomalies (coloboma, optic nerve anomalies, microphthalmia, and/or Peter's anomaly) and vision issues (myopia, anisometropia, astigmatism, exotropia, esotropia) have been reported. Congenital heart defects, most commonly septal defects, have also been described. Genitourinary abnormalities include vesicoureteral reflux, and cryptorchidism and hypospadias in males. Sensorineural hearing loss can be unilateral or bilateral.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/934739">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1619150"><div><strong>Pilarowski-Bjornsson syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1619150</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C4540131</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Pilarowski-Bjornsson syndrome (PILBOS) is an autosomal dominant neurodevelopmental disorder characterized by delayed development, impaired intellectual development, often with autistic features, speech apraxia, and mild dysmorphic features. Some patients may have seizures. The phenotype is somewhat variable (summary by Pilarowski et al., 2018).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1619150">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1627464"><div><strong>Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1627464</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)&#10;Click for more information.">C4540327</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">NEDDFL is a neurodevelopmental disorder characterized by delayed psychomotor development and impaired intellectual development, poor growth with small head size, dysmorphic facial features, and mild abnormalities of the hands and feet (summary by Stankiewicz et al., 2017).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1627464">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1639327"><div><strong>Rubinstein-Taybi syndrome due to CREBBP mutations</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1639327</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)&#10;Click for more information.">C4551859</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Rubinstein-Taybi syndrome (RSTS) is characterized by distinctive facial features, broad and often angulated thumbs and halluces, short stature, and moderate-to-severe intellectual disability. Characteristic craniofacial features include downslanted palpebral fissures, low-hanging columella, high palate, grimacing smile, and talon cusps. Prenatal growth is often normal, then height, weight, and head circumference percentiles rapidly drop in the first few months of life. Short stature is typical in adulthood. Obesity may develop in childhood or adolescence. Average IQ ranges between 35 and 50; however, developmental outcome varies considerably. Some individuals with EP300-related RSTS have normal intellect. Additional features include ocular abnormalities, hearing loss, respiratory difficulties, congenital heart defects, renal abnormalities, cryptorchidism, feeding problems, recurrent infections, and severe constipation.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1639327">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1648498"><div><strong>Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1648498</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C4748135</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1648498">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1648490"><div><strong>Intellectual developmental disorder, autosomal recessive 68</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1648490</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)&#10;Click for more information.">C4749033</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1648490">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1718444"><div><strong>Anauxetic dysplasia 3</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1718444</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)&#10;Click for more information.">C5394289</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Anauxetic dysplasia-3 (ANXD3) is characterized by severe short stature, brachydactyly, skin laxity, joint hypermobility, and joint dislocations. Radiographs show short metacarpals, broad middle phalanges, and metaphyseal irregularities. Most patients also exhibit motor and cognitive delays (Narayanan et al., 2019).&#13; For a discussion of genetic heterogeneity of anauxetic dysplasia, see ANXD1 (607095).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1718444">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1761918"><div><strong>Noonan syndrome 13</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1761918</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)&#10;Click for more information.">C5436773</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Noonan syndrome (NS) is characterized by characteristic facies, short stature, congenital heart defect, and developmental delay of variable degree. Other findings can include broad or webbed neck, unusual chest shape with superior pectus carinatum and inferior pectus excavatum, cryptorchidism, varied coagulation defects, lymphatic dysplasias, and ocular abnormalities. Although birth length is usually normal, final adult height approaches the lower limit of normal. Congenital heart disease occurs in 50%-80% of individuals. Pulmonary valve stenosis, often with dysplasia, is the most common heart defect and is found in 20%-50% of individuals. Hypertrophic cardiomyopathy, found in 20%-30% of individuals, may be present at birth or develop in infancy or childhood. Other structural defects include atrial and ventricular septal defects, branch pulmonary artery stenosis, and tetralogy of Fallot. Up to one fourth of affected individuals have mild intellectual disability, and language impairments in general are more common in NS than in the general population.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1761918">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1786662"><div><strong>Neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1786662</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)&#10;Click for more information.">C5543228</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Neurodevelopmental disorder with cerebral atrophy and facial dysmorphism (NEDCAFD) is an autosomal recessive disorder characterized by global developmental delay apparent from birth. Affected individuals have hypotonia with inability to walk and severely impaired intellectual development with absent language. Most patients have variable dysmorphic facial features including prominent eyes, protruding and low-set ears, and thin upper lip. Brain imaging shows cerebral atrophy, corpus callosum hypoplasia, and a simplified gyral pattern (summary by Rasheed et al., 2021).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1786662">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1782083"><div><strong>Faundes-Banka syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1782083</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)&#10;Click for more information.">C5543554</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Faundes-Banka syndrome (FABAS) is an autosomal dominant disorder characterized by variable combinations of developmental delay and microcephaly, as well as micrognathia and other dysmorphic features (Faundes et al., 2021).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1782083">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1794167"><div><strong>Developmental delay, impaired speech, and behavioral abnormalities</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1794167</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)&#10;Click for more information.">C5561957</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Developmental delay, impaired speech, and behavioral abnormalities (DDISBA) is characterized by global developmental delay apparent from early childhood. Intellectual disability can range from mild to severe. Additional variable features may include dysmorphic facial features, seizures, hypotonia, motor abnormalities such as Tourette syndrome or dystonia, and hearing loss (summary by Cousin et al., 2021).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1794167">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)&#10;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_1824024"><div><strong>Neurodevelopmental disorder with growth retardation, dysmorphic facies, and corpus callosum abnormalities</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1824024</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)&#10;Click for more information.">C5774251</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Neurodevelopmental disorder with growth retardation, dysmorphic facies, and corpus callosum abnormalities (NEDGFC) is an autosomal recessive disorder characterized by these cardinal features apparent from infancy. There is phenotypic variability both in disease manifestations and severity. More severely affected individuals are unable to walk independently, are nonverbal, and may have other anomalies, including congenital heart defects, feeding difficulties, or skeletal defects, whereas others show mildly delayed motor and speech acquisition with mild or borderline intellectual disability (summary by von Elsner et al., 2022).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1824024">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1851006"><div><strong>ACTB-associated syndromic thrombocytopenia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1851006</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)&#10;Click for more information.">C5882677</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Thrombocytopenia-8 with dysmorphic features and developmental delay (THC8) is an autosomal dominant syndromic disorder characterized by early-childhood onset of chronic thrombocytopenia with anisotropy and immature enlarged platelets, usually without spontaneous bleeding episodes. Affected individuals have dysmorphic facial features and variable developmental delay with speech delay and mildly impaired intellectual development (Latham et al., 2018).&#13; For a discussion of genetic heterogeneity of thrombocytopenia, see 313900.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1851006">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1854940"><div><strong>Intellectual developmental disorder, x-linked, syndromic 37</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1854940</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C5935567</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">X-linked syndromic intellectual developmental disorder-37 (MRXS37) is a developmental disorder showing phenotypic variability and variable severity. Male mutation carriers tend to be more severely affected than female mutation carriers, some of whom may even be asymptomatic. In general, the disorder is characterized by global developmental delay with delayed walking, speech delay, impaired intellectual development that ranges from borderline low to moderate, and behavioral abnormalities, such as autism and sleeping difficulties. Many patients are able to attend mainstream schools with assistance and work under supervision. Additional more variable features include sensorineural hearing loss, ocular anomalies, feeding difficulties, dysmorphic facial features, inguinal and umbilical hernia, genitourinary defects, congenital heart defects, musculoskeletal anomalies, and endocrine dysfunction, such as hypogonadism or hyperparathyroidism (Shepherdson et al., 2024).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1854940">Condition Record</a></div></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1851006" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">ACTB-associated syndromic thrombocytopenia</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1718444" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Anauxetic dysplasia 3</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_371416" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ayme-Gripp syndrome</a></div>
<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_1794167" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Developmental delay, impaired speech, and behavioral abnormalities</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (22)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1782083" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Faundes-Banka syndrome</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1648498" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1648490" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Intellectual developmental disorder, autosomal recessive 68</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1854940" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Intellectual developmental disorder, x-linked, syndromic 37</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_341067" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mowat-Wilson syndrome</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_140806" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neonatal pseudo-hydrocephalic progeroid syndrome</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1786662" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1627464" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1824024" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neurodevelopmental disorder with growth retardation, dysmorphic facies, and corpus callosum abnormalities</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_934739" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1761918" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Noonan syndrome 13</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1619150" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pilarowski-Bjornsson syndrome</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_481757" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Rafiq syndrome</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_418932" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ramos-Arroyo syndrome</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1639327" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Rubinstein-Taybi syndrome due to CREBBP mutations</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_336844" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">X-linked reticulate pigmentary disorder</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_934663" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">ZTTK syndrome</a></div></span></div></div>
</div>
<div class="portlet mgSection" id="ID_105">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
<div class="nl"><a target="_blank" href="/pubmed/30514738">Kabuki syndrome: international consensus diagnostic criteria.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Adam MP,
Banka S,
Bjornsson HT,
Bodamer O,
Chudley AE,
Harris J,
Kawame H,
Lanpher BC,
Lindsley AW,
Merla G,
Miyake N,
Okamoto N,
Stumpel CT,
Niikawa N;
Kabuki Syndrome Medical Advisory Board</span><br />
<span class="medgenPMjournal">J Med Genet</span>
2019 Feb;56(2):89-95.
Epub 2018 Dec 4
doi: 10.1136/jmedgenet-2018-105625.
<span class="bold">PMID: </span><a href="/pubmed/30514738" target="_blank">30514738</a></div>
<div class="nl"><a target="_blank" href="/pubmed/25792522">Phenotype and genotype in 103 patients with tricho-rhino-phalangeal syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Maas SM,
Shaw AC,
Bikker H,
Lüdecke HJ,
van der Tuin K,
Badura-Stronka M,
Belligni E,
Biamino E,
Bonati MT,
Carvalho DR,
Cobben J,
de Man SA,
Den Hollander NS,
Di Donato N,
Garavelli L,
Grønborg S,
Herkert JC,
Hoogeboom AJ,
Jamsheer A,
Latos-Bielenska A,
Maat-Kievit A,
Magnani C,
Marcelis C,
Mathijssen IB,
Nielsen M,
Otten E,
Ousager LB,
Pilch J,
Plomp A,
Poke G,
Poluha A,
Posmyk R,
Rieubland C,
Silengo M,
Simon M,
Steichen E,
Stumpel C,
Szakszon K,
Polonkai E,
van den Ende J,
van der Steen A,
van Essen T,
van Haeringen A,
van Hagen JM,
Verheij JB,
Mannens MM,
Hennekam RC</span><br />
<span class="medgenPMjournal">Eur J Med Genet</span>
2015 May;58(5):279-92.
Epub 2015 Mar 16
doi: 10.1016/j.ejmg.2015.03.002.
<span class="bold">PMID: </span><a href="/pubmed/25792522" target="_blank">25792522</a></div>
<div class="nl"><a target="_blank" href="/pubmed/17103451">Clinical features and management issues in Mowat-Wilson syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Adam MP,
Schelley S,
Gallagher R,
Brady AN,
Barr K,
Blumberg B,
Shieh JT,
Graham J,
Slavotinek A,
Martin M,
Keppler-Noreuil K,
Storm AL,
Hudgins L</span><br />
<span class="medgenPMjournal">Am J Med Genet A</span>
2006 Dec 15;140(24):2730-41.
doi: 10.1002/ajmg.a.31530.
<span class="bold">PMID: </span><a href="/pubmed/17103451" target="_blank">17103451</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(broad%20eyebrow)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (6)</a></div></div>
</div>
<div class="display-none help-popup" id="guidelinesHelpPM">These guidelines are articles in PubMed that match specific search criteria developed by MedGen to capture the most relevant practice guidelines. This list may not be comprehensive and may include broader topics as well. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div><div class="display-none help-popup" id="guidelinesHelpCurated">These guidelines are manually curated by the MedGen team
to supplement articles available in PubMed. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div>
<div class="portlet mgSection" id="ID_103">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_clinical_studies">Recent clinical studies</h1><a sid="103" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln"><h3 class="subhead">Etiology</h3>
<div class="nl"><a target="_blank" href="/pubmed/37761804">Snijders Blok-Campeau Syndrome: Description of 20 Additional Individuals with Variants in CHD3 and Literature Review.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Pascual P,
Tenorio-Castano J,
Mignot C,
Afenjar A,
Arias P,
Gallego-Zazo N,
Parra A,
Miranda L,
Cazalla M,
Silván C,
Heron D,
Keren B,
Popa I,
Palomares M,
Rikeros E,
Ramos FJ,
Almoguera B,
Ayuso C,
Swafiri ST,
Barbero AIS,
Srinivasan VM,
Gowda VK,
Morleo M,
Nigro V,
D'Arrigo S,
Ciaccio C,
Martin Mesa C,
Paumard B,
Guillen G,
Anton ATS,
Jimenez MD,
Seidel V,
Suárez J,
Cormier-Daire V,
Consortium TS,
Nevado J,
Lapunzina P</span><br />
<span class="medgenPMjournal">Genes (Basel)</span>
2023 Aug 23;14(9)
doi: 10.3390/genes14091664.
<span class="bold">PMID: </span><a href="/pubmed/37761804" target="_blank">37761804</a><a href="/pmc/articles/PMC10530855" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/30514738">Kabuki syndrome: international consensus diagnostic criteria.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Adam MP,
Banka S,
Bjornsson HT,
Bodamer O,
Chudley AE,
Harris J,
Kawame H,
Lanpher BC,
Lindsley AW,
Merla G,
Miyake N,
Okamoto N,
Stumpel CT,
Niikawa N;
Kabuki Syndrome Medical Advisory Board</span><br />
<span class="medgenPMjournal">J Med Genet</span>
2019 Feb;56(2):89-95.
Epub 2018 Dec 4
doi: 10.1136/jmedgenet-2018-105625.
<span class="bold">PMID: </span><a href="/pubmed/30514738" target="_blank">30514738</a></div>
<div class="nl"><a target="_blank" href="/pubmed/26114849">Multimodal Ultrawide-Field Imaging Features in Waardenburg Syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Choudhry N,
Rao RC</span><br />
<span class="medgenPMjournal">Ophthalmic Surg Lasers Imaging Retina</span>
2015 Jun;46(6):670-3.
doi: 10.3928/23258160-20150610-12.
<span class="bold">PMID: </span><a href="/pubmed/26114849" target="_blank">26114849</a><a href="/pmc/articles/PMC4532278" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/25376535">The clinical features and histopathologic patterns of folliculotropic mycosis fungoides in a series of 38 cases.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Demirkesen C,
Esirgen G,
Engin B,
Songur A,
Oğuz O</span><br />
<span class="medgenPMjournal">J Cutan Pathol</span>
2015 Jan;42(1):22-31.
Epub 2014 Dec 8
doi: 10.1111/cup.12423.
<span class="bold">PMID: </span><a href="/pubmed/25376535" target="_blank">25376535</a></div>
<div class="nl"><a target="_blank" href="/pubmed/16481892">Quantitative dysmorphology assessment in Fabry disease.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Ries M,
Moore DF,
Robinson CJ,
Tifft CJ,
Rosenbaum KN,
Brady RO,
Schiffmann R,
Krasnewich D</span><br />
<span class="medgenPMjournal">Genet Med</span>
2006 Feb;8(2):96-101.
doi: 10.1097/01.gim.0000200950.25118.dd.
<span class="bold">PMID: </span><a href="/pubmed/16481892" target="_blank">16481892</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Broad%20eyebrow%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 (18)</a></div><h3 class="subhead">Diagnosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/37761804">Snijders Blok-Campeau Syndrome: Description of 20 Additional Individuals with Variants in CHD3 and Literature Review.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Pascual P,
Tenorio-Castano J,
Mignot C,
Afenjar A,
Arias P,
Gallego-Zazo N,
Parra A,
Miranda L,
Cazalla M,
Silván C,
Heron D,
Keren B,
Popa I,
Palomares M,
Rikeros E,
Ramos FJ,
Almoguera B,
Ayuso C,
Swafiri ST,
Barbero AIS,
Srinivasan VM,
Gowda VK,
Morleo M,
Nigro V,
D'Arrigo S,
Ciaccio C,
Martin Mesa C,
Paumard B,
Guillen G,
Anton ATS,
Jimenez MD,
Seidel V,
Suárez J,
Cormier-Daire V,
Consortium TS,
Nevado J,
Lapunzina P</span><br />
<span class="medgenPMjournal">Genes (Basel)</span>
2023 Aug 23;14(9)
doi: 10.3390/genes14091664.
<span class="bold">PMID: </span><a href="/pubmed/37761804" target="_blank">37761804</a><a href="/pmc/articles/PMC10530855" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/30514738">Kabuki syndrome: international consensus diagnostic criteria.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Adam MP,
Banka S,
Bjornsson HT,
Bodamer O,
Chudley AE,
Harris J,
Kawame H,
Lanpher BC,
Lindsley AW,
Merla G,
Miyake N,
Okamoto N,
Stumpel CT,
Niikawa N;
Kabuki Syndrome Medical Advisory Board</span><br />
<span class="medgenPMjournal">J Med Genet</span>
2019 Feb;56(2):89-95.
Epub 2018 Dec 4
doi: 10.1136/jmedgenet-2018-105625.
<span class="bold">PMID: </span><a href="/pubmed/30514738" target="_blank">30514738</a></div>
<div class="nl"><a target="_blank" href="/pubmed/30349098">The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">van der Sluijs PJ,
Jansen S,
Vergano SA,
Adachi-Fukuda M,
Alanay Y,
AlKindy A,
Baban A,
Bayat A,
Beck-Wödl S,
Berry K,
Bijlsma EK,
Bok LA,
Brouwer AFJ,
van der Burgt I,
Campeau PM,
Canham N,
Chrzanowska K,
Chu YWY,
Chung BHY,
Dahan K,
De Rademaeker M,
Destree A,
Dudding-Byth T,
Earl R,
Elcioglu N,
Elias ER,
Fagerberg C,
Gardham A,
Gener B,
Gerkes EH,
Grasshoff U,
van Haeringen A,
Heitink KR,
Herkert JC,
den Hollander NS,
Horn D,
Hunt D,
Kant SG,
Kato M,
Kayserili H,
Kersseboom R,
Kilic E,
Krajewska-Walasek M,
Lammers K,
Laulund LW,
Lederer D,
Lees M,
López-González V,
Maas S,
Mancini GMS,
Marcelis C,
Martinez F,
Maystadt I,
McGuire M,
McKee S,
Mehta S,
Metcalfe K,
Milunsky J,
Mizuno S,
Moeschler JB,
Netzer C,
Ockeloen CW,
Oehl-Jaschkowitz B,
Okamoto N,
Olminkhof SNM,
Orellana C,
Pasquier L,
Pottinger C,
Riehmer V,
Robertson SP,
Roifman M,
Rooryck C,
Ropers FG,
Rosello M,
Ruivenkamp CAL,
Sagiroglu MS,
Sallevelt SCEH,
Sanchis Calvo A,
Simsek-Kiper PO,
Soares G,
Solaeche L,
Sonmez FM,
Splitt M,
Steenbeek D,
Stegmann APA,
Stumpel CTRM,
Tanabe S,
Uctepe E,
Utine GE,
Veenstra-Knol HE,
Venkateswaran S,
Vilain C,
Vincent-Delorme C,
Vulto-van Silfhout AT,
Wheeler P,
Wilson GN,
Wilson LC,
Wollnik B,
Kosho T,
Wieczorek D,
Eichler E,
Pfundt R,
de Vries BBA,
Clayton-Smith J,
Santen GWE</span><br />
<span class="medgenPMjournal">Genet Med</span>
2019 Jun;21(6):1295-1307.
Epub 2018 Nov 8
doi: 10.1038/s41436-018-0330-z.
<span class="bold">PMID: </span><a href="/pubmed/30349098" target="_blank">30349098</a><a href="/pmc/articles/PMC6752273" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/27759909">Further delineation of the phenotype of truncating KMT2A mutations: The extended Wiedemann-Steiner syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Sun Y,
Hu G,
Liu H,
Zhang X,
Huang Z,
Yan H,
Wang L,
Fan Y,
Gu X,
Yu Y</span><br />
<span class="medgenPMjournal">Am J Med Genet A</span>
2017 Feb;173(2):510-514.
Epub 2016 Oct 19
doi: 10.1002/ajmg.a.38025.
<span class="bold">PMID: </span><a href="/pubmed/27759909" target="_blank">27759909</a></div>
<div class="nl"><a target="_blank" href="/pubmed/17134645">Madarosis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Khong JJ,
Casson RJ,
Huilgol SC,
Selva D</span><br />
<span class="medgenPMjournal">Surv Ophthalmol</span>
2006 Nov-Dec;51(6):550-60.
doi: 10.1016/j.survophthal.2006.08.004.
<span class="bold">PMID: </span><a href="/pubmed/17134645" target="_blank">17134645</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Broad%20eyebrow%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 (74)</a></div><h3 class="subhead">Therapy</h3>
<div class="nl"><a target="_blank" href="/pubmed/33944913">The Second of Two One-Year, Multicenter, Open-Label, Repeat-Dose, Phase II Safety Studies of PrabotulinumtoxinA for the Treatment of Moderate to Severe Glabellar Lines in Adult Patients.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Lorenc ZP,
Adelglass JM,
Avelar RL,
Baumann L,
Beer KR,
Cohen JL,
Cox SE,
Dayan SH,
Dover JS,
Downie JB,
Draelos ZD,
Goldman MP,
Gross JE,
Joseph JH,
Kaufman-Janette J,
Moy RL,
Nestor M,
Schlessinger J,
Smith SR,
Weiss RA</span><br />
<span class="medgenPMjournal">Aesthet Surg J</span>
2021 Nov 12;41(12):1423-1438.
doi: 10.1093/asj/sjaa382.
<span class="bold">PMID: </span><a href="/pubmed/33944913" target="_blank">33944913</a><a href="/pmc/articles/PMC8598184" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/29742188">Chlorine Dioxide Complex Cleanser: A New Agent With Rapid Efficacy for Keratosis Pilaris.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Zirwas MJ,
Fichtel J</span><br />
<span class="medgenPMjournal">J Drugs Dermatol</span>
2018 May 1;17(5):554-556.
<span class="bold">PMID: </span><a href="/pubmed/29742188" target="_blank">29742188</a></div>
<div class="nl"><a target="_blank" href="/pubmed/25072222">Primary Cutaneous Coccidioidomycosis of the Eyelid: A Case Report.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Dworak DP,
Kapustiak J,
Ehklassi TA,
Patrianakos TD</span><br />
<span class="medgenPMjournal">Ophthalmic Plast Reconstr Surg</span>
2016 Mar-Apr;32(2):e40-1.
doi: 10.1097/IOP.0000000000000224.
<span class="bold">PMID: </span><a href="/pubmed/25072222" target="_blank">25072222</a></div>
<div class="nl"><a target="_blank" href="/pubmed/18093014">Botox in men.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Flynn TC</span><br />
<span class="medgenPMjournal">Dermatol Ther</span>
2007 Nov-Dec;20(6):407-13.
doi: 10.1111/j.1529-8019.2007.00156.x.
<span class="bold">PMID: </span><a href="/pubmed/18093014" target="_blank">18093014</a></div>
<div class="nl"><a target="_blank" href="/pubmed/17218082">Methimazole embryopathy: a contribution to defining the phenotype.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Valdez RM,
Barbero PM,
Liascovich RC,
De Rosa LF,
Aguirre MA,
Alba LG</span><br />
<span class="medgenPMjournal">Reprod Toxicol</span>
2007 Feb;23(2):253-5.
Epub 2006 Nov 28
doi: 10.1016/j.reprotox.2006.11.007.
<span class="bold">PMID: </span><a href="/pubmed/17218082" target="_blank">17218082</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Broad%20eyebrow%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 (14)</a></div><h3 class="subhead">Prognosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/37761804">Snijders Blok-Campeau Syndrome: Description of 20 Additional Individuals with Variants in CHD3 and Literature Review.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Pascual P,
Tenorio-Castano J,
Mignot C,
Afenjar A,
Arias P,
Gallego-Zazo N,
Parra A,
Miranda L,
Cazalla M,
Silván C,
Heron D,
Keren B,
Popa I,
Palomares M,
Rikeros E,
Ramos FJ,
Almoguera B,
Ayuso C,
Swafiri ST,
Barbero AIS,
Srinivasan VM,
Gowda VK,
Morleo M,
Nigro V,
D'Arrigo S,
Ciaccio C,
Martin Mesa C,
Paumard B,
Guillen G,
Anton ATS,
Jimenez MD,
Seidel V,
Suárez J,
Cormier-Daire V,
Consortium TS,
Nevado J,
Lapunzina P</span><br />
<span class="medgenPMjournal">Genes (Basel)</span>
2023 Aug 23;14(9)
doi: 10.3390/genes14091664.
<span class="bold">PMID: </span><a href="/pubmed/37761804" target="_blank">37761804</a><a href="/pmc/articles/PMC10530855" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/28944577">De novo mutations in HNRNPU result in a neurodevelopmental syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Yates TM,
Vasudevan PC,
Chandler KE,
Donnelly DE,
Stark Z,
Sadedin S,
Willoughby J;
Broad Center for Mendelian Genomics;
DDD study,
Balasubramanian M</span><br />
<span class="medgenPMjournal">Am J Med Genet A</span>
2017 Nov;173(11):3003-3012.
Epub 2017 Sep 25
doi: 10.1002/ajmg.a.38492.
<span class="bold">PMID: </span><a href="/pubmed/28944577" target="_blank">28944577</a><a href="/pmc/articles/PMC6555908" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/26355663">Predicting facial characteristics from complex polygenic variations.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Fagertun J,
Wolffhechel K,
Pers TH,
Nielsen HB,
Gudbjartsson D,
Stefansson H,
Stefansson K,
Paulsen RR,
Jarmer H</span><br />
<span class="medgenPMjournal">Forensic Sci Int Genet</span>
2015 Nov;19:263-268.
Epub 2015 Aug 17
doi: 10.1016/j.fsigen.2015.08.004.
<span class="bold">PMID: </span><a href="/pubmed/26355663" target="_blank">26355663</a></div>
<div class="nl"><a target="_blank" href="/pubmed/24979523">Wolf-Hirschhorn syndrome (WHS) - literature review on the features of the syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Paradowska-Stolarz AM</span><br />
<span class="medgenPMjournal">Adv Clin Exp Med</span>
2014 May-Jun;23(3):485-9.
doi: 10.17219/acem/24111.
<span class="bold">PMID: </span><a href="/pubmed/24979523" target="_blank">24979523</a></div>
<div class="nl"><a target="_blank" href="/pubmed/22216833">Chromosome 15q24 microdeletion syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Magoulas PL,
El-Hattab AW</span><br />
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
2012 Jan 4;7:2.
doi: 10.1186/1750-1172-7-2.
<span class="bold">PMID: </span><a href="/pubmed/22216833" target="_blank">22216833</a><a href="/pmc/articles/PMC3275445" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Broad%20eyebrow%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 (25)</a></div><h3 class="subhead">Clinical prediction guides</h3>
<div class="nl"><a target="_blank" href="/pubmed/37761804">Snijders Blok-Campeau Syndrome: Description of 20 Additional Individuals with Variants in CHD3 and Literature Review.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Pascual P,
Tenorio-Castano J,
Mignot C,
Afenjar A,
Arias P,
Gallego-Zazo N,
Parra A,
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Cazalla M,
Silván C,
Heron D,
Keren B,
Popa I,
Palomares M,
Rikeros E,
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Almoguera B,
Ayuso C,
Swafiri ST,
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Paumard B,
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Anton ATS,
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2019 Jun;21(6):1295-1307.
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Sadedin S,
Willoughby J;
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2017 Nov;173(11):3003-3012.
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2017 Feb;173(2):510-514.
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2015 Nov;19:263-268.
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