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<meta name="keywords" content="C1839783, finding, hyperplasia of forehead, hypertrophy of forehead, increased size of forehead, increased size of frontal region of face, large forehead, 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="" /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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||
UID=326962
|
||
ConceptID=C1839783
|
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-->
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||
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Large forehead</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>326962</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information."><span class="highlight" style="background-color:">C1839783</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>Hyperplasia of forehead; Hypertrophy of forehead; Increased size of forehead; Increased size of frontal region of face</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:0002003">HP:0002003</a></td></tr>
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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=C1839783[DISCUI]&test_type=Clinical&redirect=true" ref="ncbi_uid=326962">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=326962" ref="ncbi_uid=326962">V</a></span></span><span class="TLline">Large forehead</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/867443" ref="tree=MeSH" title="MedGen record for Phenotypic abnormality">Phenotypic abnormality</a></span><ul><li><span class="TLline"><a href="/medgen/867442" ref="tree=MeSH" title="MedGen record for Abnormality of head or neck">Abnormality of head or neck</a></span><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/871371" ref="tree=MeSH" title="MedGen record for Abnormal forehead morphology">Abnormal forehead morphology</a></span><ul><li><span class="matched_ds">Large forehead</span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
|
||
</div>
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||
|
||
<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_8912"><div><strong>Fragile X syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>8912</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.">C0016667</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">FMR1 disorders include fragile X syndrome (FXS), fragile X-associated tremor/ataxia syndrome (FXTAS), and fragile X-associated primary ovarian insufficiency (FXPOI). Fragile X syndrome occurs in individuals with an FMR1 full mutation or other loss-of-function variant and is nearly always characterized in affected males by developmental delay and intellectual disability along with a variety of behavioral issues. Autism spectrum disorder is present in 50%-70% of individuals with FXS. Affected males may have characteristic craniofacial features (which become more obvious with age) and medical problems including hypotonia, gastroesophageal reflux, strabismus, seizures, sleep disorders, joint laxity, pes planus, scoliosis, and recurrent otitis media. Adults may have mitral valve prolapse or aortic root dilatation. The physical and behavioral features seen in males with FXS have been reported in females heterozygous for the FMR1 full mutation, but with lower frequency and milder involvement. FXTAS occurs in individuals who have an FMR1 premutation and is characterized by late-onset, progressive cerebellar ataxia and intention tremor followed by cognitive impairment. Psychiatric disorders are common. Age of onset is typically between 60 and 65 years and is more common among males who are hemizygous for the premutation (40%) than among females who are heterozygous for the premutation (16%-20%). FXPOI, defined as hypergonadotropic hypogonadism before age 40 years, has been observed in 20% of women who carry a premutation allele compared to 1% in the general population.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/8912">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_75664"><div><strong>Multiple sulfatase deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>75664</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.">C0268263</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Initial symptoms of multiple sulfatase deficiency (MSD) can develop from infancy through early childhood, and presentation is widely variable. Some individuals display the multisystemic features characteristic of mucopolysaccharidosis disorders (e.g., developmental regression, organomegaly, skeletal deformities) while other individuals present primarily with neurologic regression (associated with leukodystrophy). Based on age of onset, rate of progression, and disease severity, several different clinical subtypes of MSD have been described: Neonatal MSD is the most severe with presentation in the prenatal period or at birth with rapid progression and death occurring within the first two years of life. Infantile MSD is the most common variant and may be characterized as attenuated (slower clinical course with cognitive disability and neurodegeneration identified in the 2nd year of life) or severe (loss of the majority of developmental milestones by age 5 years). Juvenile MSD is the rarest subtype with later onset of symptoms and subacute clinical presentation. Many of the features found in MSD are progressive, including neurologic deterioration, heart disease, hearing loss, and airway compromise.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/75664">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_318752"><div><strong>Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>318752</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.">C1832950</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/318752">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_337461"><div><strong>FG syndrome 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>337461</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.">C1845902</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Although the phenotypic spectrum and severity of FG syndrome is wide, the cardinal features include congenital hypotonia, delayed speech development, relative macrocephaly, dysmorphic facies, and anal anomalies or severe constipation (Unger et al., 2007). For a general phenotypic description and a discussion of genetic heterogeneity of FG syndrome, see FGS1 (305450).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/337461">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_370203"><div><strong>Polyhydramnios, megalencephaly, and symptomatic epilepsy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>370203</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.">C1970203</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A rare genetic neurological disorder with characteristics of pregnancy complicated by polyhydramnios, severe intractable epilepsy presenting in infancy, severe hypotonia, decreased muscle mass, global developmental delay, craniofacial dysmorphism (long face, large forehead, peaked eyebrows, broad nasal bridge, hypertelorism, large mouth with thick lips), and macrocephaly due to megalencephaly and hydrocephalus in most patients. Additional features that have been reported include cardiac anomalies like atrial septal defects, diabetes insipidus and nephrocalcinosis among others.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/370203">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_763789"><div><strong>Epsilon-trimethyllysine hydroxylase deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>763789</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.">C3550875</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">X-linked autism-6 is a neurodevelopmental disorder that affects only males. Some patients may respond favorably to carnitine supplementation (summary by Ziats et al., 2015). Autism, the prototypic pervasive developmental disorder (PDD), is usually apparent by 3 years of age. It is characterized by a triad of limited or absent verbal communication, a lack of reciprocal social interaction or responsiveness, and restricted, stereotypic, and ritualized patterns of interests and behavior (Bailey et al., 1996; Risch et al., 1999). 'Autism spectrum disorder,' sometimes referred to as ASD, is a broader phenotype encompassing the less severe disorders Asperger syndrome (see ASPG1; 608638) and pervasive developmental disorder, not otherwise specified (PDD-NOS). 'Broad autism phenotype' includes individuals with some symptoms of autism, but who do not meet the full criteria for autism or other disorders. Mental retardation coexists in approximately two-thirds of individuals with ASD, except for Asperger syndrome, in which mental retardation is conspicuously absent (Jones et al., 2008). Genetic studies in autism often include family members with these less stringent diagnoses (Schellenberg et al., 2006). For a discussion of heterogeneity of autism, see 209850.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/763789">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_766575"><div><strong>Cerebellar dysfunction with variable cognitive and behavioral abnormalities</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>766575</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.">C3553661</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Cerebellar dysfunction with variable cognitive and behavioral abnormalities (CECBA) is an autosomal dominant neurologic disorder with significant phenotypic heterogeneity, even within families. The disorder is most often diagnosed through genetic analysis with retrospective clinical phenotyping. Symptom onset is usually in early childhood, although later onset, even in adulthood, has been reported. Most affected individuals show global developmental delay from early childhood, particularly of motor and language skills. Many have mild intellectual disability; behavioral and psychiatric abnormalities such as autism and obsessive-compulsive disorder are also often observed. The movement disorder is prominent and may include cerebellar signs such as ataxia, tremor, dysmetria, poor coordination, and dysarthria. Other abnormal movements including spasticity, myoclonus, and dystonia have been reported, thus widening the phenotypic spectrum. Brain imaging is usually normal, but may show cerebellar atrophy or nonspecific white matter lesions. Variable dysmorphic facial features may also be present (summary by Thevenon et al., 2012; Jacobs et al., 2021; Wijnen et al., 2020).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/766575">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_767140"><div><strong>Pontocerebellar hypoplasia type 7</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>767140</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.">C3554226</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Pontocerebellar hypoplasia type 7 (PCH7) is a severe neurologic condition characterized by delayed psychomotor development, hypotonia, breathing abnormalities, and gonadal abnormalities (summary by Anderson et al., 2011). For a general phenotypic description and a discussion of genetic heterogeneity of PCH, see PCH1 (607596).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/767140">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_816612"><div><strong>Chromosome 5q12 deletion syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>816612</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.">C3810282</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">PDE4D haploinsufficiency syndrome is a rare syndromic intellectual disability characterized by developmental delay, intellectual disability, low body mass index, long arms, fingers and toes, prominent nose and small chin.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/816612">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_864147"><div><strong>Tenorio syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>864147</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.">C4015710</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Tenorio syndrome (TNORS) is characterized by overgrowth, macrocephaly, and impaired intellectual development. Some patients may have mild hydrocephaly, hypoglycemia, and inflammatory diseases resembling Sjogren syndrome (270150) (summary by Tenorio et al., 2014).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/864147">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_934594"><div><strong>Mucopolysaccharidosis-plus syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>934594</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.">C4310627</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">MPSPS is an autosomal recessive inborn error of metabolism resulting in a multisystem disorder with features of the mucopolysaccharidosis lysosomal storage diseases (see, e.g., 607016). Patients present in infancy or early childhood with respiratory difficulties, cardiac problems, anemia, dysostosis multiplex, renal involvement, coarse facies, and delayed psychomotor development. Most patients die of cardiorespiratory failure in the first years of life (summary by Kondo et al., 2017).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/934594">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_934756"><div><strong>Thrombocytopenia 6</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>934756</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.">C4310789</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Thrombocytopenia-6 is an autosomal dominant hematologic disorder characterized by increased bleeding episodes due to reduced platelet count and abnormal platelet morphology resulting from defective megakaryopoiesis. Patients may also have bone abnormalities, including osteoporosis or tooth loss, as well as an increased risk for myelofibrosis (summary by Turro et al., 2016). For a general phenotypic description and a discussion of genetic heterogeneity of thrombocytopenia, see 313900.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/934756">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_934777"><div><strong>Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>934777</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.">C4310810</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis is an X-linked recessive disorder with onset of features in early childhood. Anemia is sometimes present. Some patients may show mild early motor or speech delay, but cognition is normal (summary by Andreoletti et al., 2017).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/934777">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1615540"><div><strong>Coffin-Siris syndrome 6</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1615540</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.">C4540499</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Coffin-Siris syndrome (CSS) is classically characterized by aplasia or hypoplasia of the distal phalanx or nail of the fifth and additional digits, developmental or cognitive delay of varying degree, distinctive facial features, hypotonia, hirsutism/hypertrichosis, and sparse scalp hair. Congenital anomalies can include malformations of the cardiac, gastrointestinal, genitourinary, and/or central nervous systems. Other findings commonly include feeding difficulties, slow growth, ophthalmologic abnormalities, and hearing impairment.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1615540">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1683361"><div><strong>Paganini-Miozzo syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1683361</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.">C5193010</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Paganini-Miozzo syndrome (MRXSPM) is a neurodevelopmental disorder characterized by global developmental delay, impaired intellectual development, high myopia, and mild dysmorphic facial features (summary by Paganini et al., 2019)</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1683361">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1714169"><div><strong>Neurodevelopmental disorder with relative macrocephaly and with or without cardiac or endocrine anomalies</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1714169</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.">C5394221</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Nabais Sa-de Vries syndrome type 2 (NSDVS2) is characterized by global developmental delay apparent from birth and distinctive dysmorphic facial features. Most patients have additional anomalies, including congenital heart defects, sleep disturbances, hypotonia, and variable endocrine abnormalities, such as hypothyroidism (summary by Nabais Sa et al., 2020).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1714169">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1784907"><div><strong>Marbach-Rustad progeroid syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1784907</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.">C5543388</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Marbach-Rustad progeroid syndrome (MARUPS) is characterized by progeroid appearance with little subcutaneous fat and triangular facies, growth retardation with short stature, hypoplastic mandible crowded with unerupted supernumerary teeth, and cerebellar intention tremor. Psychomotor development is normal. Although features are reminiscent of Hutchinson-Gilford progeria syndrome (HGPS; 176670), MARUPS is less severe, with a relatively good prognosis. Two patients have been reported (Marbach et al., 2019).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1784907">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1785846"><div><strong>Osteootohepatoenteric syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1785846</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.">C5543557</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Osteootohepatoenteric syndrome (OOHE) is characterized by a variable combination of bone fragility, hearing loss, cholestasis, and congenital diarrhea. Some patients also display mild developmental delay and intellectual disability (Esteve et al., 2018).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1785846">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1794184"><div><strong>Neurodevelopmental disorder with hypotonia and dysmorphic facies</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1794184</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.">C5561974</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Neurodevelopmental disorder with hypotonia and dysmorphic facies (NEDHYDF) is characterized by global developmental delay and hypotonia apparent from birth. Affected individuals have variably impaired intellectual development, often with speech delay and delayed walking. Seizures are generally not observed, although some patients may have single seizures or late-onset epilepsy. Most patients have prominent dysmorphic facial features. Additional features may include congenital cardiac defects (without arrhythmia), nonspecific renal anomalies, joint contractures or joint hyperextensibility, dry skin, and cryptorchidism. There is significant phenotypic variability in both the neurologic and extraneurologic manifestations (summary by Tan et al., 2022).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1794184">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1794214"><div><strong>Developmental delay with or without intellectual impairment or behavioral abnormalities</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1794214</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.">C5562004</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Developmental delay with or without intellectual impairment or behavioral abnormalities (DDIB) is an autosomal dominant disorder with a nonspecific phenotype of developmental delay. Additional features may include neonatal feeding problems, hypotonia, and dysmorphic facial features (Dulovic-Mahlow et al., 2019; van Woerden et al., 2021).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1794214">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_318752" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_766575" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cerebellar dysfunction with variable cognitive and behavioral abnormalities</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_816612" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Chromosome 5q12 deletion syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1615540" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Coffin-Siris syndrome 6</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1794214" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Developmental delay with or without intellectual impairment or behavioral abnormalities</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (20)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_763789" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Epsilon-trimethyllysine hydroxylase deficiency</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_337461" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">FG syndrome 2</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_8912" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Fragile X syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1784907" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Marbach-Rustad progeroid syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_934777" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_934594" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mucopolysaccharidosis-plus syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_75664" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Multiple sulfatase deficiency</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1794184" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neurodevelopmental disorder with hypotonia and dysmorphic facies</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1714169" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neurodevelopmental disorder with relative macrocephaly and with or without cardiac or endocrine anomalies</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1785846" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Osteootohepatoenteric syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1683361" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Paganini-Miozzo syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_370203" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Polyhydramnios, megalencephaly, and symptomatic epilepsy</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_767140" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pontocerebellar hypoplasia type 7</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_864147" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Tenorio syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_934756" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Thrombocytopenia 6</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/35393718">Clinical utility of botulinum toxin type A local injection therapy for head and forehead hyperhidrosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ando Y,
|
||
Ohshima Y,
|
||
Yanagishita T,
|
||
Watanabe H,
|
||
Tamada Y,
|
||
Akiyama M,
|
||
Watanabe D</span><br />
|
||
<span class="medgenPMjournal">J Dermatol</span>
|
||
2022 Jul;49(7):719-723.
|
||
Epub 2022 Apr 7
|
||
doi: 10.1111/1346-8138.16368.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35393718" target="_blank">35393718</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24658020">Medical and dental management of Alagille syndrome: a review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Berniczei-Royko A,
|
||
Chałas R,
|
||
Mitura I,
|
||
Nagy K,
|
||
Prussak E</span><br />
|
||
<span class="medgenPMjournal">Med Sci Monit</span>
|
||
2014 Mar 24;20:476-80.
|
||
doi: 10.12659/MSM.890577.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24658020" target="_blank">24658020</a><a href="/pmc/articles/PMC3972053" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22610175">Parameters for pyrethroid insecticide QSAR and PBPK/PD models for human risk assessment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Knaak JB,
|
||
Dary CC,
|
||
Zhang X,
|
||
Gerlach RW,
|
||
Tornero-Velez R,
|
||
Chang DT,
|
||
Goldsmith R,
|
||
Blancato JN</span><br />
|
||
<span class="medgenPMjournal">Rev Environ Contam Toxicol</span>
|
||
2012;219:1-114.
|
||
doi: 10.1007/978-1-4614-3281-4_1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22610175" target="_blank">22610175</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(large%20forehead)%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 (8)</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/37010383">Temporoparietal Fasciocutaneous Island Flap for Forehead and Anterior Scalp Reconstruction.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Madorsky S,
|
||
Rauchut E</span><br />
|
||
<span class="medgenPMjournal">Facial Plast Surg Aesthet Med</span>
|
||
2024 Jan-Feb;26(1):23-27.
|
||
Epub 2023 Apr 3
|
||
doi: 10.1089/fpsam.2022.0386.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37010383" target="_blank">37010383</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33601981">Forehead Reduction: A Systematic Review and Meta-Analysis of Outcomes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Vila PM,
|
||
Somani SN,
|
||
Wafford QE,
|
||
Sidle DM</span><br />
|
||
<span class="medgenPMjournal">Facial Plast Surg Aesthet Med</span>
|
||
2022 Jan-Feb;24(1):34-40.
|
||
Epub 2021 Feb 18
|
||
doi: 10.1089/fpsam.2020.0474.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33601981" target="_blank">33601981</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22753102">A novel advancement flap for reconstruction of massive forehead and temple soft-tissue defects.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Huang AT,
|
||
Tarasidis G,
|
||
Yelverton JC,
|
||
Burke A</span><br />
|
||
<span class="medgenPMjournal">Laryngoscope</span>
|
||
2012 Aug;122(8):1679-84.
|
||
Epub 2012 Jul 2
|
||
doi: 10.1002/lary.23355.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22753102" target="_blank">22753102</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19123721">Soft-tissue facial characteristics of attractive Italian women as compared to normal women.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sforza C,
|
||
Laino A,
|
||
D'Alessio R,
|
||
Grandi G,
|
||
Binelli M,
|
||
Ferrario VF</span><br />
|
||
<span class="medgenPMjournal">Angle Orthod</span>
|
||
2009 Jan;79(1):17-23.
|
||
doi: 10.2319/122707-605.1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19123721" target="_blank">19123721</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10513935">Vertical preperiosteal rejuvenation of the frame of the eyelids and midface.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hinderer UT</span><br />
|
||
<span class="medgenPMjournal">Plast Reconstr Surg</span>
|
||
1999 Oct;104(5):1482-99; discussion 1500-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10513935" target="_blank">10513935</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Large%20forehead%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 (10)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/34196401">Tenorio syndrome: Description of 14 novel cases and review of the clinical and molecular features.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tenorio-Castaño JA,
|
||
Arias P,
|
||
Fernández-Jaén A,
|
||
Lay-Son G,
|
||
Bueno-Lozano G,
|
||
Bayat A,
|
||
Faivre L,
|
||
Gallego N,
|
||
Ramos S,
|
||
Butler KM,
|
||
Morel C,
|
||
Hadjiyannakis S,
|
||
Lespinasse J,
|
||
Tran-Mau-Them F,
|
||
Santos-Simarro F,
|
||
Pinson L,
|
||
Martínez-Monseny AF,
|
||
O'Callaghan Cord MDM,
|
||
Álvarez S,
|
||
Stolerman ES,
|
||
Washington C,
|
||
Ramos FJ,
|
||
The S O G R I Consortium,
|
||
Lapunzina P</span><br />
|
||
<span class="medgenPMjournal">Clin Genet</span>
|
||
2021 Oct;100(4):405-411.
|
||
Epub 2021 Jul 16
|
||
doi: 10.1111/cge.14020.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34196401" target="_blank">34196401</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30157140">Large Forehead Mass Resulting From Chronic Head Banging.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ovadia SA,
|
||
Gonzalez D,
|
||
Thaller SR</span><br />
|
||
<span class="medgenPMjournal">J Craniofac Surg</span>
|
||
2018 Oct;29(7):e682-e684.
|
||
doi: 10.1097/SCS.0000000000004894.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30157140" target="_blank">30157140</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27832226">Large Forehead Nodule with Multiple Facial and Oral Papules.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Liau MM,
|
||
Tan KB,
|
||
Lee VK,
|
||
Ho SA</span><br />
|
||
<span class="medgenPMjournal">Ann Acad Med Singap</span>
|
||
2016 Oct;45(10):481-483.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27832226" target="_blank">27832226</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26713651">Misdiagnosed microcystic adnexal carcinoma on the lateral forehead and challenges in reconstruction of a large and bone-deep defect.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fallaha A,
|
||
Thuile T,
|
||
Tappeiner L,
|
||
Pichler M,
|
||
Deluca J,
|
||
Perino F,
|
||
Eisendle K</span><br />
|
||
<span class="medgenPMjournal">J Dtsch Dermatol Ges</span>
|
||
2016 Jan;14(1):86-90.
|
||
doi: 10.1111/ddg.12867.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26713651" target="_blank">26713651</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19619433">Acrocallosal syndrome: a case report and literature survey.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hodgson BD,
|
||
Davies L,
|
||
Gonzalez CD</span><br />
|
||
<span class="medgenPMjournal">J Dent Child (Chic)</span>
|
||
2009 May-Aug;76(2):170-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19619433" target="_blank">19619433</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Large%20forehead%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 (10)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/33601981">Forehead Reduction: A Systematic Review and Meta-Analysis of Outcomes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Vila PM,
|
||
Somani SN,
|
||
Wafford QE,
|
||
Sidle DM</span><br />
|
||
<span class="medgenPMjournal">Facial Plast Surg Aesthet Med</span>
|
||
2022 Jan-Feb;24(1):34-40.
|
||
Epub 2021 Feb 18
|
||
doi: 10.1089/fpsam.2020.0474.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33601981" target="_blank">33601981</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29799979">Assessment of Frontalis Myocutaneous Transposition Flap for Forehead Reconstruction After Mohs Surgery.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tomás-Velázquez A,
|
||
Redondo P</span><br />
|
||
<span class="medgenPMjournal">JAMA Dermatol</span>
|
||
2018 Jun 1;154(6):708-711.
|
||
doi: 10.1001/jamadermatol.2018.1213.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29799979" target="_blank">29799979</a><a href="/pmc/articles/PMC6145651" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22753102">A novel advancement flap for reconstruction of massive forehead and temple soft-tissue defects.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Huang AT,
|
||
Tarasidis G,
|
||
Yelverton JC,
|
||
Burke A</span><br />
|
||
<span class="medgenPMjournal">Laryngoscope</span>
|
||
2012 Aug;122(8):1679-84.
|
||
Epub 2012 Jul 2
|
||
doi: 10.1002/lary.23355.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22753102" target="_blank">22753102</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21655195">The motivational salience of infant faces is similar for men and women.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Parsons CE,
|
||
Young KS,
|
||
Kumari N,
|
||
Stein A,
|
||
Kringelbach ML</span><br />
|
||
<span class="medgenPMjournal">PLoS One</span>
|
||
2011;6(5):e20632.
|
||
Epub 2011 May 31
|
||
doi: 10.1371/journal.pone.0020632.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21655195" target="_blank">21655195</a><a href="/pmc/articles/PMC3105111" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Large%20forehead%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 (4)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35119402">Attractive Versus Golden Ratios: Formula of Utopian Beauty through Comparison of Facial Proportions among Worldwide Celebrities and Average People.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yalcinkaya E,
|
||
Kocaman SA,
|
||
Yuksekkaya M</span><br />
|
||
<span class="medgenPMjournal">J Craniofac Surg</span>
|
||
2022 Oct 1;33(7):1950-1955.
|
||
Epub 2022 Feb 4
|
||
doi: 10.1097/SCS.0000000000008495.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35119402" target="_blank">35119402</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34580982">A monoallelic SEC23A variant E599K associated with cranio-lenticulo-sutural dysplasia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cisarova K,
|
||
Garavelli L,
|
||
Caraffi SG,
|
||
Peluso F,
|
||
Valeri L,
|
||
Gargano G,
|
||
Gavioli S,
|
||
Trimarchi G,
|
||
Neri A,
|
||
Campos-Xavier B,
|
||
Superti-Furga A</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2022 Jan;188(1):319-325.
|
||
Epub 2021 Sep 28
|
||
doi: 10.1002/ajmg.a.62506.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34580982" target="_blank">34580982</a><a href="/pmc/articles/PMC9291540" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15919249">Large forehead: a novel sign of undiagnosed coeliac disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Finizio M,
|
||
Quaremba G,
|
||
Mazzacca G,
|
||
Ciacci C</span><br />
|
||
<span class="medgenPMjournal">Dig Liver Dis</span>
|
||
2005 Sep;37(9):659-64.
|
||
doi: 10.1016/j.dld.2005.04.014.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15919249" target="_blank">15919249</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10513935">Vertical preperiosteal rejuvenation of the frame of the eyelids and midface.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hinderer UT</span><br />
|
||
<span class="medgenPMjournal">Plast Reconstr Surg</span>
|
||
1999 Oct;104(5):1482-99; discussion 1500-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10513935" target="_blank">10513935</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/733166">Eyelid reconstruction by the semicircle flap technique.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tenzel RR,
|
||
Stewart WB</span><br />
|
||
<span class="medgenPMjournal">Ophthalmology</span>
|
||
1978 Nov;85(11):1164-9.
|
||
doi: 10.1016/s0161-6420(78)35578-0.
|
||
<span class="bold">PMID: </span><a href="/pubmed/733166" target="_blank">733166</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Large%20forehead%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 (8)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35119402">Attractive Versus Golden Ratios: Formula of Utopian Beauty through Comparison of Facial Proportions among Worldwide Celebrities and Average People.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yalcinkaya E,
|
||
Kocaman SA,
|
||
Yuksekkaya M</span><br />
|
||
<span class="medgenPMjournal">J Craniofac Surg</span>
|
||
2022 Oct 1;33(7):1950-1955.
|
||
Epub 2022 Feb 4
|
||
doi: 10.1097/SCS.0000000000008495.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35119402" target="_blank">35119402</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30157140">Large Forehead Mass Resulting From Chronic Head Banging.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ovadia SA,
|
||
Gonzalez D,
|
||
Thaller SR</span><br />
|
||
<span class="medgenPMjournal">J Craniofac Surg</span>
|
||
2018 Oct;29(7):e682-e684.
|
||
doi: 10.1097/SCS.0000000000004894.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30157140" target="_blank">30157140</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19619433">Acrocallosal syndrome: a case report and literature survey.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hodgson BD,
|
||
Davies L,
|
||
Gonzalez CD</span><br />
|
||
<span class="medgenPMjournal">J Dent Child (Chic)</span>
|
||
2009 May-Aug;76(2):170-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19619433" target="_blank">19619433</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15919249">Large forehead: a novel sign of undiagnosed coeliac disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Finizio M,
|
||
Quaremba G,
|
||
Mazzacca G,
|
||
Ciacci C</span><br />
|
||
<span class="medgenPMjournal">Dig Liver Dis</span>
|
||
2005 Sep;37(9):659-64.
|
||
doi: 10.1016/j.dld.2005.04.014.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15919249" target="_blank">15919249</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8880574">Clinical and genetic heterogeneity of hypochondroplasia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rousseau F,
|
||
Bonaventure J,
|
||
Legeai-Mallet L,
|
||
Schmidt H,
|
||
Weissenbach J,
|
||
Maroteaux P,
|
||
Munnich A,
|
||
Le Merrer M</span><br />
|
||
<span class="medgenPMjournal">J Med Genet</span>
|
||
1996 Sep;33(9):749-52.
|
||
doi: 10.1136/jmg.33.9.749.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8880574" target="_blank">8880574</a><a href="/pmc/articles/PMC1050728" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Large%20forehead%22%20AND%20Clinical%20prediction%20guides%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (7)</a></div></div>
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<div class="nl"><a target="_blank" href="/pubmed/33601981">Forehead Reduction: A Systematic Review and Meta-Analysis of Outcomes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Vila PM,
|
||
Somani SN,
|
||
Wafford QE,
|
||
Sidle DM</span><br />
|
||
<span class="medgenPMjournal">Facial Plast Surg Aesthet Med</span>
|
||
2022 Jan-Feb;24(1):34-40.
|
||
Epub 2021 Feb 18
|
||
doi: 10.1089/fpsam.2020.0474.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33601981" target="_blank">33601981</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Large%20forehead%22%20AND%20systematic%5Bsb%5D%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (1)</a></div></div>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C1839783%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (1)</a></li>
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<li><a href="/gtr/tests?term=C1839783%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (1)</a></li>
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