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<meta name="keywords" content="C0040412, anatomical abnormality, cracked tongue, fissured tongue, fissured tongues, furrowed tongue, furrowed tongues, grooved tongue, lingua plicata, lingua plicatas, lingual furrow, plicata, lingua, plicatas, lingua, plicated tongue, prominent tongue grooves, scrotal tongue, scrotal tongues, tongue, fissured, tongue, furrowed, tongue, scrotal, tongues, fissured, tongues, furrowed, tongues, scrotal, 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="Accentuation of the grooves on the dorsal surface of the tongue." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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UID=21583
|
||
ConceptID=C0040412
|
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-->
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<!--imgCountBooks = 0--><div class="ncbi_carousel" data-ncbicarousel-config="imageWidth:'100px',numItemsVisible:2,toggler:false"><div class="nc_header"><span class="img_strip_title">Image</span></div><div class="nc_content"><div class="nc_item"><a class="figpopup"><img alt="Figure 1" src="/projects/medgen/images/thumb/97b601adeb79955a.1.thumb.jpg" src-large="/projects/medgen/images/97b601adeb79955a.1.jpg" /></a><br /><a href="http://elementsofmorphology.nih.gov/index.cgi?tid=97b601adeb79955a" target="_blank" title="Elements of Morphology: Human Malformation Terminology - NHGRI">details</a></div></div></div><h1 class="medgenTitle"><div class="MedGenTitleText">Furrowed tongue</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>21583</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:">C0040412</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>LINGUA PLICATA; Plicated tongue; SCROTAL TONGUE</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Cracked tongue (52368004); Plicated tongue (52368004); Fissured tongue (52368004); Furrowed tongue (52368004); Scrotal tongue (52368004); Lingua plicata (52368004)</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:0000221">HP:0000221</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/137400" target="_blank">137400</a></td></tr>
|
||
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<div class="portlet mgSection" id="ID_100">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">Accentuation of the grooves on the dorsal surface of the tongue. [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_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=C0040412[DISCUI]&test_type=Clinical" ref="ncbi_uid=21583">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=21583" target="_blank" href="/omim/137400">O</a></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=21583" ref="ncbi_uid=21583">V</a></span></span><span class="TLline">Furrowed tongue</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/6447" ref="tree=MeSH" title="MedGen record for Abnormality of the mouth">Abnormality of the mouth</a></span><ul><li><span class="TLline"><a href="/medgen/1645271" ref="tree=MeSH" title="MedGen record for Abnormal oral morphology">Abnormal oral morphology</a></span><ul><li><span class="TLline"><a href="/medgen/871391" ref="tree=MeSH" title="MedGen record for Abnormal oral cavity morphology">Abnormal oral cavity morphology</a></span><ul><li><span class="TLline"><a href="/medgen/895701" ref="tree=MeSH" title="MedGen record for Abnormal tongue morphology">Abnormal tongue morphology</a></span><ul><li><span class="matched_ds">Furrowed tongue</span><ul><li><span class="TLline"><a href="/medgen/335102" ref="tree=MeSH" title="MedGen record for Exaggerated median tongue furrow">Exaggerated median tongue furrow</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_6291"><div><strong>Melkersson-Rosenthal syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>6291</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.">C0025235</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Melkersson-Rosenthal syndrome is characterized by chronic swelling of the face, peripheral facial palsy, which may be bilateral and may tend to relapse, and in some cases ligua plicata (fissured tongue). The swelling is localized especially to the lips. Onset is usually in childhood or adolescence (summary by Kunstadter, 1965).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/6291">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_120536"><div><strong>Autosomal dominant keratitis-ichthyosis-hearing loss syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>120536</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.">C0265336</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Keratitis-ichthyosis-deafness (KID) syndrome is a rare ectodermal dysplasia characterized by sensorineural hearing loss, photophobia and corneal vascularization, hyperkeratosis of the palms and soles, erythrokeratoderma, follicular hyperkeratosis, and recurrent bacterial and fungal infections. A subset of patients with KID may develop multiple cystic pilar tumors, which are prone to malignant transformation and metastasis (Nyquist et al., 2007). Vohwinkel syndrome (124500) is an allelic disorder involving congenital deafness with keratopachydermia and constrictions of fingers and toes. Another similar disorder caused by mutation in GJB2 is palmoplantar keratoderma with deafness (148350). Genetic Heterogeneity of Keratitis-Ichthyosis-Deafness Syndrome An autosomal recessive form of KID syndrome (KIDAR; 242150) is caused by mutation in the AP1B1 gene (600157) on chromosome 22q12.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/120536">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_87539"><div><strong>Follicular atrophoderma and basal cell epitheliomata</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>87539</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.">C0346104</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Bazex-Dupre-Christol syndrome (BDCS) is an X-linked dominant disorder characterized by a triad of congenital hypotrichosis, follicular atrophoderma affecting the dorsa of the hands and feet, the face, and extensor surfaces of the elbows or knees, and the development of basal cell neoplasms, including basal cell nevi and basal cell carcinomas from the second decade onward (Yung and Newton-Bishop, 2005). Rombo syndrome (180730) has similar features, but shows autosomal dominant inheritance.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/87539">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_581114"><div><strong>Acrodermatitis continua suppurativa of Hallopeau</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>581114</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.">C0392439</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A rare, genetic, chronic, recurrent, slowly progressive, epidermal disease characterized by small, sterile, pustular eruptions, involving the nails and surrounding skin of the fingers and/or toes, which coalesce and burst, leaving erythematous, atrophic skin where new pustules develop. Onychodystrophy is frequently associated and anonychia and osteolysis are reported in severe cases. Local expansion (to involve the hands, forearms and/or feet) and involvement of mucosal surfaces (e.g. conjunctiva, tongue, urethra) may be observed.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/581114">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_220887"><div><strong>Hereditary mucoepithelial dysplasia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>220887</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.">C1274795</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hereditary mucoepithelial dysplasia (HMD) is a rare autosomal dominant genodermatosis characterized by onset in infancy of a panepithelial defect involving the oral, nasal, conjunctival, vaginal, cervical, perineal, urethral, and bladder mucosa. Patients develop cataracts, blindness, nonscarring alopecia, perineal psoriasiform lesions, and follicular keratoses (Witkop et al., 1982). Although 1 family was reported to have progressive severe interstitial lung disease (Witkop et al., 1979), this feature has not been reported in other families and is not considered a criterion for diagnosis. However, the clinical triad of nonscarring alopecia, well-demarcated fiery red mucosa, and psoriasiform perineal involvement has been consistently observed (review by Boralevi et al., 2005).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/220887">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_318972"><div><strong>Ophthalmoplegia-intellectual disability-lingua scrotalis syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>318972</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.">C1833835</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Ophthalmoplegia-intellectual disability-lingua scrotalis syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by congenital, external, nuclear ophthalmoplegia, lingua scrotalis, progressive chorioretinal sclerosis and intellectual disability. Bilateral ptosis, bilateral facial weakness, Parinaud's syndrome, convergence paresis and myopia may be associated. There have been no further descriptions in the literature since 1975.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/318972">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_331813"><div><strong>Cerebelloparenchymal Disorder VI</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>331813</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.">C1834711</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/331813">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_335139"><div><strong>Syndromic X-linked intellectual disability Claes-Jensen type</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>335139</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.">C1845243</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Claes-Jensen type of X-linked syndromic intellectual developmental disorder (MRXSCJ) is characterized by impaired intellectual development with substantial clinical heterogeneity in affected males. However, males are usually reported to have short stature, microcephaly, hyperreflexia, and aggressive behavior. In rare cases, female carriers exhibit mildly impaired intellectual development or learning difficulties (summary by Guerra et al., 2020).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/335139">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_767329"><div><strong>Distal arthrogryposis type 5D</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>767329</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.">C3554415</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">This autosomal recessive form of distal arthrogryposis, designated DA5D by McMillin et al. (2013), is characterized by severe camptodactyly of the hands, including adducted thumbs and wrists; mild camptodactyly of the toes; clubfoot and/or a calcaneovalgus deformity; extension contractures of the knee; unilateral ptosis or ptosis that is more severe on one side; a round-shaped face; arched eyebrows; a bulbous, upturned nose; and micrognathia. Notably, these patients do not have ophthalmoplegia. For a general phenotypic description and discussion of genetic heterogeneity of distal arthrogryposis, see DA1A (108120). For discussion of genetic heterogeneity of distal arthrogryposis type 5, see DA5 (108145).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/767329">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_767432"><div><strong>Cowden syndrome 5</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>767432</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.">C3554518</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">PIK3CA-related overgrowth spectrum (PROS) encompasses a range of clinical findings in which the core features are congenital or early-childhood onset of segmental/focal overgrowth with or without cellular dysplasia. Prior to the identification of PIK3CA as the causative gene, PROS was separated into distinct clinical syndromes based on the tissues and/or organs involved (e.g., MCAP [megalencephaly-capillary malformation] syndrome and CLOVES [congenital lipomatous asymmetric overgrowth of the trunk, lymphatic, capillary, venous, and combined-type vascular malformations, epidermal nevi, skeletal and spinal anomalies] syndrome). The predominant areas of overgrowth include the brain, limbs (including fingers and toes), trunk (including abdomen and chest), and face, all usually in an asymmetric distribution. Generalized brain overgrowth may be accompanied by secondary overgrowth of specific brain structures resulting in ventriculomegaly, a markedly thick corpus callosum, and cerebellar tonsillar ectopia with crowding of the posterior fossa. Vascular malformations may include capillary, venous, and less frequently, arterial or mixed (capillary-lymphatic-venous or arteriovenous) malformations. Lymphatic malformations may be in various locations (internal and/or external) and can cause various clinical issues, including swelling, pain, and occasionally localized bleeding secondary to trauma. Lipomatous overgrowth may occur ipsilateral or contralateral to a vascular malformation, if present. The degree of intellectual disability appears to be mostly related to the presence and severity of seizures, cortical dysplasia (e.g., polymicrogyria), and hydrocephalus. Many children have feeding difficulties that are often multifactorial in nature. Endocrine issues affect a small number of individuals and most commonly include hypoglycemia (largely hypoinsulinemic hypoketotic hypoglycemia), hypothyroidism, and growth hormone deficiency.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/767432">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_767433"><div><strong>Cowden syndrome 6</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>767433</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.">C3554519</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The features of Cowden syndrome overlap with those of another disorder called Bannayan-Riley-Ruvalcaba syndrome. People with Bannayan-Riley-Ruvalcaba syndrome also develop hamartomas and other noncancerous tumors. Some people with Cowden syndrome have relatives diagnosed with Bannayan-Riley-Ruvalcaba syndrome, and other affected individuals have the characteristic features of both conditions. Based on these similarities, researchers have proposed that Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome represent a spectrum of overlapping features known as PTEN hamartoma tumor syndrome (named for the genetic cause of the conditions) instead of two distinct conditions.\n\n\n\nSome people do not meet the strict criteria for a clinical diagnosis of Cowden syndrome, but they have some of the characteristic features of the condition, particularly the cancers. These individuals are often described as having Cowden-like syndrome. Both Cowden syndrome and Cowden-like syndrome are caused by mutations in the same genes.\n\nCowden syndrome is associated with an increased risk of developing several types of cancer, particularly cancers of the breast, a gland in the lower neck called the thyroid, and the lining of the uterus (the endometrium). Other cancers that have been identified in people with Cowden syndrome include kidney cancer, colorectal cancer, and an agressive form of skin cancer called melanoma. Compared with the general population, people with Cowden syndrome develop these cancers at younger ages, often beginning in their thirties or forties. People with Cowden syndrome are also more likely to develop more than one cancer during their lifetimes compared to the general population. Other diseases of the breast, thyroid, and endometrium are also common in Cowden syndrome. Additional signs and symptoms can include an enlarged head (macrocephaly) and a rare, noncancerous brain tumor called Lhermitte-Duclos disease. A small percentage of affected individuals have delayed development, intellectual disability, or autism spectrum disorder, which can affect communication and social interaction.\n\nAlmost everyone with Cowden syndrome develops hamartomas. These growths are most commonly found on the skin and mucous membranes (such as the lining of the mouth and nose), but they can also occur in the intestine and other parts of the body. The growth of hamartomas on the skin and mucous membranes typically becomes apparent by a person's late twenties.\n\nCowden syndrome is a genetic disorder characterized by multiple noncancerous, tumor-like growths called hamartomas and an increased risk of developing certain cancers.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/767433">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_811523"><div><strong>Pachyonychia congenita 3</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>811523</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.">C3714948</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Pachyonychia congenita (PC) is characterized by hypertrophic nail dystrophy, painful palmoplantar keratoderma and blistering, oral leukokeratosis, pilosebaceous cysts (including steatocystoma and vellus hair cysts), palmoplantar hyperhydrosis, and follicular keratoses on the trunk and extremities.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/811523">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_897292"><div><strong>Congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>897292</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.">C4225323</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Basel-Vanagaite-Smirin-Yosef syndrome is an autosomal recessive multiple congenital anomaly disorder characterized by severely delayed psychomotor development resulting in mental retardation, as well as variable eye, brain, cardiac, and palatal abnormalities (summary by Basel-Vanagaite et al., 2015).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/897292">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) 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="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_581114" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Acrodermatitis continua suppurativa of Hallopeau</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_120536" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal dominant keratitis-ichthyosis-hearing loss syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_331813" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cerebelloparenchymal Disorder VI</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_897292" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_767432" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cowden syndrome 5</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (14)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_767433" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cowden syndrome 6</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_767329" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Distal arthrogryposis type 5D</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_87539" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Follicular atrophoderma and basal cell epitheliomata</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_220887" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hereditary mucoepithelial dysplasia</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_6291" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Melkersson-Rosenthal syndrome</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_318972" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ophthalmoplegia-intellectual disability-lingua scrotalis syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_811523" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pachyonychia congenita 3</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_335139" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Syndromic X-linked intellectual disability Claes-Jensen type</a></div></span></div></div>
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</div>
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<div class="portlet mgSection" id="ID_105">
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<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/32843252">Rabson-Mendenhall Syndrome in a brother-sister pair in Kuwait: Diagnosis and 5 year follow up.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Al-Kandari H,
|
||
Al-Abdulrazzaq D,
|
||
Al-Jaser F,
|
||
Al-Mulla F,
|
||
Davidsson L</span><br />
|
||
<span class="medgenPMjournal">Prim Care Diabetes</span>
|
||
2021 Feb;15(1):175-177.
|
||
Epub 2020 Aug 23
|
||
doi: 10.1016/j.pcd.2020.07.012.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32843252" target="_blank">32843252</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22furrowed%20tongue%22%5Btiab%3A~0%5D)%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 (1)</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
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||
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/38373372">Machine learning for prediction of schizophrenia based on identifying the primary and interaction effects of minor physical anomalies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jeng SL,
|
||
Tu MJ,
|
||
Lin CW,
|
||
Lin JJ,
|
||
Tseng HH,
|
||
Jang FL,
|
||
Lu MK,
|
||
Chen PS,
|
||
Huang CC,
|
||
Chang WH,
|
||
Tan HP,
|
||
Lin SH</span><br />
|
||
<span class="medgenPMjournal">J Psychiatr Res</span>
|
||
2024 Apr;172:108-118.
|
||
Epub 2024 Feb 14
|
||
doi: 10.1016/j.jpsychires.2024.02.032.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38373372" target="_blank">38373372</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35962048">Increased prevalence of minor physical anomalies in patients with epilepsy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tényi D,
|
||
Tényi T,
|
||
Csábi G,
|
||
Jeges S,
|
||
Bóné B,
|
||
Lőrincz K,
|
||
Kovács N,
|
||
Janszky J</span><br />
|
||
<span class="medgenPMjournal">Sci Rep</span>
|
||
2022 Aug 12;12(1):13707.
|
||
doi: 10.1038/s41598-022-17853-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35962048" target="_blank">35962048</a><a href="/pmc/articles/PMC9374691" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32843252">Rabson-Mendenhall Syndrome in a brother-sister pair in Kuwait: Diagnosis and 5 year follow up.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Al-Kandari H,
|
||
Al-Abdulrazzaq D,
|
||
Al-Jaser F,
|
||
Al-Mulla F,
|
||
Davidsson L</span><br />
|
||
<span class="medgenPMjournal">Prim Care Diabetes</span>
|
||
2021 Feb;15(1):175-177.
|
||
Epub 2020 Aug 23
|
||
doi: 10.1016/j.pcd.2020.07.012.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32843252" target="_blank">32843252</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24798215">Minor physical anomalies in schizophrenia and bipolar I disorder and the neurodevelopmental continuum of psychosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Akabaliev VH,
|
||
Sivkov ST,
|
||
Mantarkov MY</span><br />
|
||
<span class="medgenPMjournal">Bipolar Disord</span>
|
||
2014 Sep;16(6):633-41.
|
||
Epub 2014 May 3
|
||
doi: 10.1111/bdi.12211.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24798215" target="_blank">24798215</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/12783021">Melkersson-Rosenthal syndrome in the periocular area: a review of the literature and case report.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Shapiro M,
|
||
Peters S,
|
||
Spinelli HM</span><br />
|
||
<span class="medgenPMjournal">Ann Plast Surg</span>
|
||
2003 Jun;50(6):644-8.
|
||
doi: 10.1097/01.SAP.0000069068.03742.48.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12783021" target="_blank">12783021</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Furrowed%20tongue%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 (8)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36919764">Triple-furrowed tongue in myasthenia gravis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Shiba H,
|
||
Furukawa K,
|
||
Tamaki S,
|
||
Takahashi M</span><br />
|
||
<span class="medgenPMjournal">QJM</span>
|
||
2023 Jul 28;116(7):534-535.
|
||
doi: 10.1093/qjmed/hcad035.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36919764" target="_blank">36919764</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32843252">Rabson-Mendenhall Syndrome in a brother-sister pair in Kuwait: Diagnosis and 5 year follow up.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Al-Kandari H,
|
||
Al-Abdulrazzaq D,
|
||
Al-Jaser F,
|
||
Al-Mulla F,
|
||
Davidsson L</span><br />
|
||
<span class="medgenPMjournal">Prim Care Diabetes</span>
|
||
2021 Feb;15(1):175-177.
|
||
Epub 2020 Aug 23
|
||
doi: 10.1016/j.pcd.2020.07.012.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32843252" target="_blank">32843252</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25099528">Distal arthrogryposis type 5D with a novel ECEL1 gene mutation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Patil SJ,
|
||
Rai GK,
|
||
Bhat V,
|
||
Ramesh VA,
|
||
Nagarajaram HA,
|
||
Matalia J,
|
||
Phadke SR</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2014 Nov;164A(11):2857-62.
|
||
Epub 2014 Aug 5
|
||
doi: 10.1002/ajmg.a.36702.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25099528" target="_blank">25099528</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9934409">Melkersson-Rosenthal syndrome in a diabetic boy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ruza Paz-Curbera E,
|
||
Fernández Benítez M</span><br />
|
||
<span class="medgenPMjournal">Allergol Immunopathol (Madr)</span>
|
||
1998 Nov-Dec;26(6):291-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9934409" target="_blank">9934409</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/7160950">Acquired hypertrichosis lanuginosa.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sindhuphak W,
|
||
Vibhagool A</span><br />
|
||
<span class="medgenPMjournal">Int J Dermatol</span>
|
||
1982 Dec;21(10):599-601.
|
||
doi: 10.1111/j.1365-4362.1982.tb02043.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/7160950" target="_blank">7160950</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Furrowed%20tongue%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 (15)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38373372">Machine learning for prediction of schizophrenia based on identifying the primary and interaction effects of minor physical anomalies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jeng SL,
|
||
Tu MJ,
|
||
Lin CW,
|
||
Lin JJ,
|
||
Tseng HH,
|
||
Jang FL,
|
||
Lu MK,
|
||
Chen PS,
|
||
Huang CC,
|
||
Chang WH,
|
||
Tan HP,
|
||
Lin SH</span><br />
|
||
<span class="medgenPMjournal">J Psychiatr Res</span>
|
||
2024 Apr;172:108-118.
|
||
Epub 2024 Feb 14
|
||
doi: 10.1016/j.jpsychires.2024.02.032.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38373372" target="_blank">38373372</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29065902">Treatment of orofacial granulomatosis: a case report.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Badshah MB,
|
||
Walayat S,
|
||
Ahmed U,
|
||
Dhillon S,
|
||
Yong S,
|
||
Kane S,
|
||
Thievanayagam S</span><br />
|
||
<span class="medgenPMjournal">J Med Case Rep</span>
|
||
2017 Oct 25;11(1):300.
|
||
doi: 10.1186/s13256-017-1455-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29065902" target="_blank">29065902</a><a href="/pmc/articles/PMC5655806" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24225172">Melkerrson-Rosenthal Syndrome, a rare case report of chronic eyelid swelling.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kajal B,
|
||
Harvey J,
|
||
Alowami S</span><br />
|
||
<span class="medgenPMjournal">Diagn Pathol</span>
|
||
2013 Nov 13;8:188.
|
||
doi: 10.1186/1746-1596-8-188.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24225172" target="_blank">24225172</a><a href="/pmc/articles/PMC4225747" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15898297">Clofazimine as elective treatment for granulomatous cheilitis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fdez-Freire LR,
|
||
Serrano Gotarredona A,
|
||
Bernabeu Wittel J,
|
||
Pulpillo Ruiz A,
|
||
Cabrera R,
|
||
Navarrete Ortega M,
|
||
Conejo-Mir J</span><br />
|
||
<span class="medgenPMjournal">J Drugs Dermatol</span>
|
||
2005 May-Jun;4(3):374-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15898297" target="_blank">15898297</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/12783021">Melkersson-Rosenthal syndrome in the periocular area: a review of the literature and case report.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Shapiro M,
|
||
Peters S,
|
||
Spinelli HM</span><br />
|
||
<span class="medgenPMjournal">Ann Plast Surg</span>
|
||
2003 Jun;50(6):644-8.
|
||
doi: 10.1097/01.SAP.0000069068.03742.48.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12783021" target="_blank">12783021</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Furrowed%20tongue%22%20AND%20Therapy%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (7)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38373372">Machine learning for prediction of schizophrenia based on identifying the primary and interaction effects of minor physical anomalies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jeng SL,
|
||
Tu MJ,
|
||
Lin CW,
|
||
Lin JJ,
|
||
Tseng HH,
|
||
Jang FL,
|
||
Lu MK,
|
||
Chen PS,
|
||
Huang CC,
|
||
Chang WH,
|
||
Tan HP,
|
||
Lin SH</span><br />
|
||
<span class="medgenPMjournal">J Psychiatr Res</span>
|
||
2024 Apr;172:108-118.
|
||
Epub 2024 Feb 14
|
||
doi: 10.1016/j.jpsychires.2024.02.032.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38373372" target="_blank">38373372</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32843252">Rabson-Mendenhall Syndrome in a brother-sister pair in Kuwait: Diagnosis and 5 year follow up.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Al-Kandari H,
|
||
Al-Abdulrazzaq D,
|
||
Al-Jaser F,
|
||
Al-Mulla F,
|
||
Davidsson L</span><br />
|
||
<span class="medgenPMjournal">Prim Care Diabetes</span>
|
||
2021 Feb;15(1):175-177.
|
||
Epub 2020 Aug 23
|
||
doi: 10.1016/j.pcd.2020.07.012.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32843252" target="_blank">32843252</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24798215">Minor physical anomalies in schizophrenia and bipolar I disorder and the neurodevelopmental continuum of psychosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Akabaliev VH,
|
||
Sivkov ST,
|
||
Mantarkov MY</span><br />
|
||
<span class="medgenPMjournal">Bipolar Disord</span>
|
||
2014 Sep;16(6):633-41.
|
||
Epub 2014 May 3
|
||
doi: 10.1111/bdi.12211.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24798215" target="_blank">24798215</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21846578">Minor physical anomalies in patients with bipolar I disorder and normal controls.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Akabaliev V,
|
||
Sivkov S,
|
||
Mantarkov M,
|
||
Ahmed-Popova F</span><br />
|
||
<span class="medgenPMjournal">J Affect Disord</span>
|
||
2011 Dec;135(1-3):193-200.
|
||
Epub 2011 Aug 16
|
||
doi: 10.1016/j.jad.2011.07.019.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21846578" target="_blank">21846578</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/12783021">Melkersson-Rosenthal syndrome in the periocular area: a review of the literature and case report.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Shapiro M,
|
||
Peters S,
|
||
Spinelli HM</span><br />
|
||
<span class="medgenPMjournal">Ann Plast Surg</span>
|
||
2003 Jun;50(6):644-8.
|
||
doi: 10.1097/01.SAP.0000069068.03742.48.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12783021" target="_blank">12783021</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Furrowed%20tongue%22%20AND%20Prognosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (7)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38373372">Machine learning for prediction of schizophrenia based on identifying the primary and interaction effects of minor physical anomalies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jeng SL,
|
||
Tu MJ,
|
||
Lin CW,
|
||
Lin JJ,
|
||
Tseng HH,
|
||
Jang FL,
|
||
Lu MK,
|
||
Chen PS,
|
||
Huang CC,
|
||
Chang WH,
|
||
Tan HP,
|
||
Lin SH</span><br />
|
||
<span class="medgenPMjournal">J Psychiatr Res</span>
|
||
2024 Apr;172:108-118.
|
||
Epub 2024 Feb 14
|
||
doi: 10.1016/j.jpsychires.2024.02.032.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38373372" target="_blank">38373372</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24798215">Minor physical anomalies in schizophrenia and bipolar I disorder and the neurodevelopmental continuum of psychosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Akabaliev VH,
|
||
Sivkov ST,
|
||
Mantarkov MY</span><br />
|
||
<span class="medgenPMjournal">Bipolar Disord</span>
|
||
2014 Sep;16(6):633-41.
|
||
Epub 2014 May 3
|
||
doi: 10.1111/bdi.12211.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24798215" target="_blank">24798215</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21846578">Minor physical anomalies in patients with bipolar I disorder and normal controls.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Akabaliev V,
|
||
Sivkov S,
|
||
Mantarkov M,
|
||
Ahmed-Popova F</span><br />
|
||
<span class="medgenPMjournal">J Affect Disord</span>
|
||
2011 Dec;135(1-3):193-200.
|
||
Epub 2011 Aug 16
|
||
doi: 10.1016/j.jad.2011.07.019.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21846578" target="_blank">21846578</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15957522">Hereditary Melkersson-Rosenthal syndrome and multiple sclerosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cabrera-Gómez JA,
|
||
Echazabal-Santana N,
|
||
Real-González Y,
|
||
Romero García K,
|
||
Junior Sobrinho M,
|
||
Gil Ocaña MA,
|
||
González-Valdes N,
|
||
Valdes-Montesde Oca ML,
|
||
Cristofo-Corominas M,
|
||
González de la Nuez J,
|
||
García Lahera J,
|
||
Ugarte Suárez C</span><br />
|
||
<span class="medgenPMjournal">Mult Scler</span>
|
||
2005 Jun;11(3):364-6.
|
||
doi: 10.1191/1352458505ms1164cr.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15957522" target="_blank">15957522</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15898297">Clofazimine as elective treatment for granulomatous cheilitis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fdez-Freire LR,
|
||
Serrano Gotarredona A,
|
||
Bernabeu Wittel J,
|
||
Pulpillo Ruiz A,
|
||
Cabrera R,
|
||
Navarrete Ortega M,
|
||
Conejo-Mir J</span><br />
|
||
<span class="medgenPMjournal">J Drugs Dermatol</span>
|
||
2005 May-Jun;4(3):374-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15898297" target="_blank">15898297</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Furrowed%20tongue%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 (8)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
<div id="messagearea_bottom">
|
||
|
||
</div>
|
||
<div class=" bottom">
|
||
|
||
</div>
|
||
|
||
</div>
|
||
</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
<div>
|
||
|
||
<!-- MedGen supplemental column starts here -->
|
||
<div class="rightCol mgCol">
|
||
<div class="portlet mgSection" id="ID_113">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul id="my-toc"></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_106">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Genetic_Testing_Registry">Genetic Testing Registry</h1><a sid="106" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C0040412%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (7)</a></li>
|
||
<li><a href="/gtr/tests?term=C0040412%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (7)</a></li>
|
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<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C0040412%5bDISCUI%5d" target="_blank">See all (7)</a></total></li>
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