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<!--
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UID=376558
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ConceptID=C1849295
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Hypoplastic labia minora</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>376558</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.">C1849295</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
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<td>Underdeveloped inner lips</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>HPO:</td>
|
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<td><a target="_blank" title="Human Phenotype Ontology" href="https://hpo.jax.org/app/browse/term/HP:0000064">HP:0000064</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 unavailable round" title="Clinical test">C</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 unavailable" title="ClinVar">V</span></span><span class="TLline">Hypoplastic labia minora</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/155422" ref="tree=MeSH" title="MedGen record for Abnormality of the genital system">Abnormality of the genital system</a></span><ul><li><span class="TLline"><a href="/medgen/866746" ref="tree=MeSH" title="MedGen record for Abnormal reproductive system morphology">Abnormal reproductive system morphology</a></span><ul><li><span class="TLline"><a href="/medgen/869393" ref="tree=MeSH" title="MedGen record for Abnormality of the female genitalia">Abnormality of the female genitalia</a></span><ul><li><span class="TLline"><a href="/medgen/867445" ref="tree=MeSH" title="MedGen record for Abnormal female external genitalia morphology">Abnormal female external genitalia morphology</a></span><ul><li><span class="TLline"><a href="/medgen/871394" ref="tree=MeSH" title="MedGen record for Abnormal labia morphology">Abnormal labia morphology</a></span><ul><li><span class="TLline"><a href="/medgen/868302" ref="tree=MeSH" title="MedGen record for Abnormal labia minora morphology">Abnormal labia minora morphology</a></span><ul><li><span class="matched_ds">Hypoplastic labia minora</span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></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_46057"><div><strong>Prader-Willi syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>46057</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.">C0032897</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Prader-Willi syndrome (PWS) is characterized by severe hypotonia, poor appetite, and feeding difficulties in early infancy, followed in early childhood by excessive eating and gradual development of morbid obesity (unless food intake is strictly controlled). Motor milestones and language development are delayed. All individuals have some degree of cognitive impairment. Hypogonadism is present in both males and females and manifests as genital hypoplasia, incomplete pubertal development, and, in most, infertility. Short stature is common (if not treated with growth hormone). A distinctive behavioral phenotype (temper tantrums, stubbornness, manipulative behavior, and obsessive-compulsive characteristics) is common. Characteristic facial features, strabismus, and scoliosis are often present.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/46057">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_120517"><div><strong>Schinzel-Giedion syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>120517</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.">C0265227</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Classic Schinzel-Giedion syndrome (SGS), an ultra-rare multisystem disorder caused by gain-of-function pathogenic variants in a SETBP1 mutational hot spot, is characterized by global neurodevelopmental impairment leading to moderate-to-profound intellectual disability, epilepsy (often refractory to treatment), hypotonia, spasticity, dysautonomia, hearing loss, and cerebral visual impairment. Other findings can include poor weight gain often associated with gastroesophageal reflux disease, chronic vomiting, constipation, gastroparesis, and/or feeding intolerance. Structural malformations can involve the heart, skeleton, kidney and urinary tract, genitalia, and brain. Anomalies of the liver, spleen, and/or pancreas are less common. Other features may include neuroepithelial neoplasia, severely disrupted sleep, choanal stenosis, inguinal hernia, sensitive skin, and increased risk of infection. To date, more than 50 individuals have been reported with molecularly confirmed classic SGS. Atypical SGS, reported in five individuals to date, is caused by pathogenic SETBP1 variants in proximity to – but not within – the mutational hot spot. The broad spectrum of clinical features of variable severity partially overlaps with classic SGS; however, this spectrum does not include risk for neuroepithelial neoplasia to date.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/120517">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_230818"><div><strong>Barber-Say syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>230818</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.">C1319466</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Barber-Say syndrome (BBRSAY) is a rare congenital condition characterized by severe hypertrichosis, especially of the back, skin abnormalities such as hyperlaxity and redundancy, and facial dysmorphism, including macrostomia, eyelid deformities, ocular telecanthus, abnormal and low-set ears, bulbous nasal tip with hypoplastic alae nasi, and low frontal hairline (summary by Roche et al., 2010).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/230818">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_462463"><div><strong>Meier-Gorlin syndrome 3</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>462463</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.">C3151113</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Additional features of Meier-Gorlin syndrome can include difficulty feeding and a lung condition known as pulmonary emphysema or other breathing problems.\n\nAbnormalities in sexual development may also occur in Meier-Gorlin syndrome. In some males with this condition, the testes are small or undescended (cryptorchidism). Affected females may have unusually small external genital folds (hypoplasia of the labia majora) and small breasts. Both males and females with this condition can have sparse or absent underarm (axillary) hair.\n\nSome people with Meier-Gorlin syndrome have other skeletal abnormalities, such as unusually narrow long bones in the arms and legs, a deformity of the knee joint that allows the knee to bend backwards (genu recurvatum), and slowed mineralization of bones (delayed bone age).\n\nMost people with Meier-Gorlin syndrome have distinctive facial features. In addition to being abnormally small, the ears may be low-set or rotated backward. Additional features can include a small mouth (microstomia), an underdeveloped lower jaw (micrognathia), full lips, and a narrow nose with a high nasal bridge.\n\nMeier-Gorlin syndrome is a condition primarily characterized by short stature. It is considered a form of primordial dwarfism because the growth problems begin before birth (intrauterine growth retardation). After birth, affected individuals continue to grow at a slow rate. Other characteristic features of this condition are underdeveloped or missing kneecaps (patellae), small ears, and, often, an abnormally small head (microcephaly). Despite a small head size, most people with Meier-Gorlin syndrome have normal intellect.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/462463">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_481833"><div><strong>Warburg micro syndrome 3</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>481833</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.">C3280203</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">RAB18 deficiency is the molecular deficit underlying both Warburg micro syndrome (characterized by eye, nervous system, and endocrine abnormalities) and Martsolf syndrome (characterized by similar – but milder – findings). To date Warburg micro syndrome comprises >96% of reported individuals with genetically defined RAB18 deficiency. The hallmark ophthalmologic findings are bilateral congenital cataracts, usually accompanied by microphthalmia, microcornea (diameter <10), and small atonic pupils. Poor vision despite early cataract surgery likely results from progressive optic atrophy and cortical visual impairment. Individuals with Warburg micro syndrome have severe to profound intellectual disability (ID); those with Martsolf syndrome have mild to moderate ID. Some individuals with RAB18 deficiency also have epilepsy. In Warburg micro syndrome, a progressive ascending spastic paraplegia typically begins with spastic diplegia and contractures during the first year, followed by upper-limb involvement leading to spastic quadriplegia after about age five years, often eventually causing breathing difficulties. In Martsolf syndrome infantile hypotonia is followed primarily by slowly progressive lower-limb spasticity. Hypogonadism – when present – manifests in both syndromes, in males as micropenis and/or cryptorchidism and in females as hypoplastic labia minora, clitoral hypoplasia, and small introitus.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/481833">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1641240"><div><strong>Meier-Gorlin syndrome 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1641240</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.">C4552001</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The Meier-Gorlin syndrome is a rare disorder characterized by severe intrauterine and postnatal growth retardation, microcephaly, bilateral microtia, and aplasia or hypoplasia of the patellae (summary by Shalev and Hall, 2003). While almost all cases have primordial dwarfism with substantial prenatal and postnatal growth retardation, not all cases have microcephaly, and microtia and absent/hypoplastic patella are absent in some. Despite the presence of microcephaly, intellect is usually normal (Bicknell et al., 2011). Genetic Heterogeneity of Meier-Gorlin Syndrome Most forms of Meier-Gorlin syndrome are autosomal recessive disorders, including Meier-Gorlin syndrome-1; Meier-Gorlin syndrome-2 (613800), caused by mutation in the ORC4 gene (603056) on chromosome 2q23; Meier-Gorlin syndrome-3 (613803), caused by mutation in the ORC6 gene (607213) on chromosome 16q11; Meier-Gorlin syndrome-4 (613804), caused by mutation in the CDT1 gene (605525) on chromosome 16q24; Meier-Gorlin syndrome-5 (613805), caused by mutation in the CDC6 gene (602627) on chromosome 17q21; Meier-Gorlin syndrome-7 (617063), caused by mutation in the CDC45L gene (603465) on chromosome 22q11; and Meier-Gorlin syndrome-8 (617564), caused by mutation in the MCM5 gene (602696) on chromosome 22q12. An autosomal dominant form of the disorder, Meier-Gorlin syndrome-6 (616835), is caused by mutation in the GMNN gene (602842) on chromosome 6p22.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1641240">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1770070"><div><strong>Autosomal recessive Robinow syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1770070</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.">C5399974</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">ROR2-related Robinow syndrome is characterized by distinctive craniofacial features, skeletal abnormalities, and other anomalies. Craniofacial features include macrocephaly, broad prominent forehead, low-set ears, ocular hypertelorism, prominent eyes, midface hypoplasia, short upturned nose with depressed nasal bridge and flared nostrils, large and triangular mouth with exposed incisors and upper gums, gum hypertrophy, misaligned teeth, ankyloglossia, and micrognathia. Skeletal abnormalities include short stature, mesomelic or acromesomelic limb shortening, hemivertebrae with fusion of thoracic vertebrae, and brachydactyly. Other common features include micropenis with or without cryptorchidism in males and reduced clitoral size and hypoplasia of the labia majora in females, renal tract abnormalities, and nail hypoplasia or dystrophy. The disorder is recognizable at birth or in early childhood.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1770070">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1761611"><div><strong>Developmental and epileptic encephalopathy 89</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1761611</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.">C5436853</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Developmental and epileptic encephalopathy-89 (DEE89) is a severe autosomal recessive disorder characterized by profound global developmental delay with impaired intellectual development, absent speech, inability to sit or walk due to axial hypotonia and spastic quadriparesis, and onset of seizures in the first days or months of life. EEG shows suppression-burst pattern or hypsarrhythmia, consistent with DEE or a clinical diagnosis of West syndrome. More variable features include joint contractures with foot deformities, dysmorphic facial features with cleft palate, and omphalocele. Affected individuals have poor motor skills, poor eye contact, and lack of language development; some die in infancy or early childhood. Brain imaging may be normal or show nonspecific abnormalities (summary by Chatron et al., 2020).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1761611">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1770070" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal recessive Robinow syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_230818" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Barber-Say syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1761611" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Developmental and epileptic encephalopathy 89</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1641240" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Meier-Gorlin syndrome 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_462463" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Meier-Gorlin syndrome 3</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_46057" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Prader-Willi syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_120517" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Schinzel-Giedion syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_481833" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Warburg micro syndrome 3</a></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/22333897">Meier-Gorlin syndrome genotype-phenotype studies: 35 individuals with pre-replication complex gene mutations and 10 without molecular diagnosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">de Munnik SA,
|
||
Bicknell LS,
|
||
Aftimos S,
|
||
Al-Aama JY,
|
||
van Bever Y,
|
||
Bober MB,
|
||
Clayton-Smith J,
|
||
Edrees AY,
|
||
Feingold M,
|
||
Fryer A,
|
||
van Hagen JM,
|
||
Hennekam RC,
|
||
Jansweijer MC,
|
||
Johnson D,
|
||
Kant SG,
|
||
Opitz JM,
|
||
Ramadevi AR,
|
||
Reardon W,
|
||
Ross A,
|
||
Sarda P,
|
||
Schrander-Stumpel CT,
|
||
Schoots J,
|
||
Temple IK,
|
||
Terhal PA,
|
||
Toutain A,
|
||
Wise CA,
|
||
Wright M,
|
||
Skidmore DL,
|
||
Samuels ME,
|
||
Hoefsloot LH,
|
||
Knoers NV,
|
||
Brunner HG,
|
||
Jackson AP,
|
||
Bongers EM</span><br />
|
||
<span class="medgenPMjournal">Eur J Hum Genet</span>
|
||
2012 Jun;20(6):598-606.
|
||
Epub 2012 Feb 15
|
||
doi: 10.1038/ejhg.2011.269.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22333897" target="_blank">22333897</a><a href="/pmc/articles/PMC3355263" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22hypoplastic%20labia%20minora%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
|
||
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/31782896">Molecular subtype and growth hormone effects on dysmorphology in Prader-Willi syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Oldzej J,
|
||
Manazir J,
|
||
Gold JA,
|
||
Mahmoud R,
|
||
Osann K,
|
||
Flodman P,
|
||
Cassidy SB,
|
||
Kimonis VE</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2020 Jan;182(1):169-175.
|
||
Epub 2019 Nov 29
|
||
doi: 10.1002/ajmg.a.61408.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31782896" target="_blank">31782896</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26381604">Meier-Gorlin syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">de Munnik SA,
|
||
Hoefsloot EH,
|
||
Roukema J,
|
||
Schoots J,
|
||
Knoers NV,
|
||
Brunner HG,
|
||
Jackson AP,
|
||
Bongers EM</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2015 Sep 17;10:114.
|
||
doi: 10.1186/s13023-015-0322-x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26381604" target="_blank">26381604</a><a href="/pmc/articles/PMC4574002" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22333897">Meier-Gorlin syndrome genotype-phenotype studies: 35 individuals with pre-replication complex gene mutations and 10 without molecular diagnosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">de Munnik SA,
|
||
Bicknell LS,
|
||
Aftimos S,
|
||
Al-Aama JY,
|
||
van Bever Y,
|
||
Bober MB,
|
||
Clayton-Smith J,
|
||
Edrees AY,
|
||
Feingold M,
|
||
Fryer A,
|
||
van Hagen JM,
|
||
Hennekam RC,
|
||
Jansweijer MC,
|
||
Johnson D,
|
||
Kant SG,
|
||
Opitz JM,
|
||
Ramadevi AR,
|
||
Reardon W,
|
||
Ross A,
|
||
Sarda P,
|
||
Schrander-Stumpel CT,
|
||
Schoots J,
|
||
Temple IK,
|
||
Terhal PA,
|
||
Toutain A,
|
||
Wise CA,
|
||
Wright M,
|
||
Skidmore DL,
|
||
Samuels ME,
|
||
Hoefsloot LH,
|
||
Knoers NV,
|
||
Brunner HG,
|
||
Jackson AP,
|
||
Bongers EM</span><br />
|
||
<span class="medgenPMjournal">Eur J Hum Genet</span>
|
||
2012 Jun;20(6):598-606.
|
||
Epub 2012 Feb 15
|
||
doi: 10.1038/ejhg.2011.269.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22333897" target="_blank">22333897</a><a href="/pmc/articles/PMC3355263" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hypoplastic%20labia%20minora%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 (3)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/26381604">Meier-Gorlin syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">de Munnik SA,
|
||
Hoefsloot EH,
|
||
Roukema J,
|
||
Schoots J,
|
||
Knoers NV,
|
||
Brunner HG,
|
||
Jackson AP,
|
||
Bongers EM</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2015 Sep 17;10:114.
|
||
doi: 10.1186/s13023-015-0322-x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26381604" target="_blank">26381604</a><a href="/pmc/articles/PMC4574002" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22333897">Meier-Gorlin syndrome genotype-phenotype studies: 35 individuals with pre-replication complex gene mutations and 10 without molecular diagnosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">de Munnik SA,
|
||
Bicknell LS,
|
||
Aftimos S,
|
||
Al-Aama JY,
|
||
van Bever Y,
|
||
Bober MB,
|
||
Clayton-Smith J,
|
||
Edrees AY,
|
||
Feingold M,
|
||
Fryer A,
|
||
van Hagen JM,
|
||
Hennekam RC,
|
||
Jansweijer MC,
|
||
Johnson D,
|
||
Kant SG,
|
||
Opitz JM,
|
||
Ramadevi AR,
|
||
Reardon W,
|
||
Ross A,
|
||
Sarda P,
|
||
Schrander-Stumpel CT,
|
||
Schoots J,
|
||
Temple IK,
|
||
Terhal PA,
|
||
Toutain A,
|
||
Wise CA,
|
||
Wright M,
|
||
Skidmore DL,
|
||
Samuels ME,
|
||
Hoefsloot LH,
|
||
Knoers NV,
|
||
Brunner HG,
|
||
Jackson AP,
|
||
Bongers EM</span><br />
|
||
<span class="medgenPMjournal">Eur J Hum Genet</span>
|
||
2012 Jun;20(6):598-606.
|
||
Epub 2012 Feb 15
|
||
doi: 10.1038/ejhg.2011.269.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22333897" target="_blank">22333897</a><a href="/pmc/articles/PMC3355263" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11152140">Humoral immunodeficiency with facial dysmorphology and limb anomalies: a new syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hoffman HM,
|
||
Bastian JF,
|
||
Bird LM</span><br />
|
||
<span class="medgenPMjournal">Clin Dysmorphol</span>
|
||
2001 Jan;10(1):1-8.
|
||
doi: 10.1097/00019605-200101000-00001.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11152140" target="_blank">11152140</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hypoplastic%20labia%20minora%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 (3)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/31782896">Molecular subtype and growth hormone effects on dysmorphology in Prader-Willi syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Oldzej J,
|
||
Manazir J,
|
||
Gold JA,
|
||
Mahmoud R,
|
||
Osann K,
|
||
Flodman P,
|
||
Cassidy SB,
|
||
Kimonis VE</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2020 Jan;182(1):169-175.
|
||
Epub 2019 Nov 29
|
||
doi: 10.1002/ajmg.a.61408.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31782896" target="_blank">31782896</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hypoplastic%20labia%20minora%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 (1)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/11152140">Humoral immunodeficiency with facial dysmorphology and limb anomalies: a new syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hoffman HM,
|
||
Bastian JF,
|
||
Bird LM</span><br />
|
||
<span class="medgenPMjournal">Clin Dysmorphol</span>
|
||
2001 Jan;10(1):1-8.
|
||
doi: 10.1097/00019605-200101000-00001.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11152140" target="_blank">11152140</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/7607645">Isodicentric Y chromosome: cytogenetic, molecular and clinical studies and review of the literature.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tuck-Muller CM,
|
||
Chen H,
|
||
Martínez JE,
|
||
Shen CC,
|
||
Li S,
|
||
Kusyk C,
|
||
Batista DA,
|
||
Bhatnagar YM,
|
||
Dowling E,
|
||
Wertelecki W</span><br />
|
||
<span class="medgenPMjournal">Hum Genet</span>
|
||
1995 Jul;96(1):119-29.
|
||
doi: 10.1007/BF00214200.
|
||
<span class="bold">PMID: </span><a href="/pubmed/7607645" target="_blank">7607645</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hypoplastic%20labia%20minora%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 (2)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/22333897">Meier-Gorlin syndrome genotype-phenotype studies: 35 individuals with pre-replication complex gene mutations and 10 without molecular diagnosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">de Munnik SA,
|
||
Bicknell LS,
|
||
Aftimos S,
|
||
Al-Aama JY,
|
||
van Bever Y,
|
||
Bober MB,
|
||
Clayton-Smith J,
|
||
Edrees AY,
|
||
Feingold M,
|
||
Fryer A,
|
||
van Hagen JM,
|
||
Hennekam RC,
|
||
Jansweijer MC,
|
||
Johnson D,
|
||
Kant SG,
|
||
Opitz JM,
|
||
Ramadevi AR,
|
||
Reardon W,
|
||
Ross A,
|
||
Sarda P,
|
||
Schrander-Stumpel CT,
|
||
Schoots J,
|
||
Temple IK,
|
||
Terhal PA,
|
||
Toutain A,
|
||
Wise CA,
|
||
Wright M,
|
||
Skidmore DL,
|
||
Samuels ME,
|
||
Hoefsloot LH,
|
||
Knoers NV,
|
||
Brunner HG,
|
||
Jackson AP,
|
||
Bongers EM</span><br />
|
||
<span class="medgenPMjournal">Eur J Hum Genet</span>
|
||
2012 Jun;20(6):598-606.
|
||
Epub 2012 Feb 15
|
||
doi: 10.1038/ejhg.2011.269.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22333897" target="_blank">22333897</a><a href="/pmc/articles/PMC3355263" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21056704">Interstitial deletion of 7q31.32 → q33 secondary to a paracentric inversion of a maternal chromosome 7.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Paskulin GA,
|
||
Riegel M,
|
||
Machado Rosa RF,
|
||
Graziadio C,
|
||
Gazzola Zen PR</span><br />
|
||
<span class="medgenPMjournal">Eur J Med Genet</span>
|
||
2011 Mar-Apr;54(2):181-5.
|
||
Epub 2010 Nov 5
|
||
doi: 10.1016/j.ejmg.2010.10.012.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21056704" target="_blank">21056704</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/7607645">Isodicentric Y chromosome: cytogenetic, molecular and clinical studies and review of the literature.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tuck-Muller CM,
|
||
Chen H,
|
||
Martínez JE,
|
||
Shen CC,
|
||
Li S,
|
||
Kusyk C,
|
||
Batista DA,
|
||
Bhatnagar YM,
|
||
Dowling E,
|
||
Wertelecki W</span><br />
|
||
<span class="medgenPMjournal">Hum Genet</span>
|
||
1995 Jul;96(1):119-29.
|
||
doi: 10.1007/BF00214200.
|
||
<span class="bold">PMID: </span><a href="/pubmed/7607645" target="_blank">7607645</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hypoplastic%20labia%20minora%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 (3)</a></div></div>
|
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|
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