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<meta name="keywords" content="C0581342, loose redundant skin, loose, redundant skin, pathologic function, redundant skin, redundant skin folds, sagging, redundant skin, 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="Loose and sagging skin often associated with loss of skin elasticity." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
UID=154379
ConceptID=C0581342
-->
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Redundant skin</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>154379</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0581342</a></dd><dt><span class="dotprefix"></span></dt><dd>Pathologic Function</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
<td>Loose redundant skin; Loose, redundant skin; Redundant skin folds; Sagging, redundant skin</td></tr>
<tr><td><span class="bold">SNOMED CT: </span></td>
<td>Redundant skin (201093004)</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:0001582">HP:0001582</a></td></tr>
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<div class="portlet mgSection" id="ID_100">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln">Loose and sagging skin often associated with loss of skin elasticity. [from <a title="Human Phenotype Ontology" href="http://www.human-phenotype-ontology.org" class="defSource" target="_blank">HPO</a>]</div>
</div>
<div class="portlet mgSection" id="ID_118">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test,  </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test,  </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM,  </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>,  </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar  </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="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">Redundant skin</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/871273" ref="tree=MeSH" title="MedGen record for Abnormality of the integument">Abnormality of the integument</a></span><ul><li><span class="TLline"><a href="/medgen/1845238" ref="tree=MeSH" title="MedGen record for Abnormality of the skin">Abnormality of the skin</a></span><ul><li><span class="TLline"><a href="/medgen/869110" ref="tree=MeSH" title="MedGen record for Abnormal skin morphology">Abnormal skin morphology</a></span><ul><li><span class="TLline"><a href="/medgen/869334" ref="tree=MeSH" title="MedGen record for Abnormal elasticity of skin">Abnormal elasticity of skin</a></span><ul><li><span class="TLline"><a href="/medgen/870294" ref="tree=MeSH" title="MedGen record for Abnormally lax or hyperextensible skin">Abnormally lax or hyperextensible skin</a></span><ul><li><span class="TLline"><a href="/medgen/8206" ref="tree=MeSH" title="MedGen record for Cutis laxa">Cutis laxa</a></span><ul><li><span class="matched_ds">Redundant skin</span><ul><li><span class="TLline"><a href="/medgen/322692" ref="tree=MeSH" title="MedGen record for Redundant skin in infancy">Redundant skin in infancy</a></span></li><li><span class="TLline"><a href="/medgen/870411" ref="tree=MeSH" title="MedGen record for Redundant skin on fingers">Redundant skin on fingers</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_82793"><div><strong>Cutis laxa, X-linked</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>82793</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0268353</a></dd><dt><span class="dotprefix"></span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
<div class="spaceAbove">Occipital horn syndrome (OHS) is a rare connective tissue disorder characterized by hyperelastic and bruisable skin, hernias, bladder diverticula, hyperextensible joints, varicosities, and multiple skeletal abnormalities. The disorder is sometimes accompanied by mild neurologic impairment, and bony abnormalities of the occiput are a common feature, giving rise to the name (summary by Das et al., 1995).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/82793">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_82795"><div><strong>Cutis laxa with osteodystrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>82795</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0268355</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">ATP6V0A2-related cutis laxa is characterized by generalized cutis laxa, findings associated with generalized connective tissue disorder, developmental delays, and a variety of neurologic findings including abnormality on brain MRI. At birth, hypotonia, overfolded skin, and distinctive facial features are present and enlarged fontanelles are often observed. During childhood, the characteristic facial features and thick or coarse hair may become quite pronounced. The skin findings decrease with age, although easy bruising and Ehlers-Danlos-like scars have been described in some. In most (not all) affected individuals, cortical and cerebellar malformations are observed on brain MRI. Nearly all affected individuals have developmental delays, seizures, and neurologic regression.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/82795">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_98030"><div><strong>Wrinkly skin syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>98030</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0406587</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">ATP6V0A2-related cutis laxa is characterized by generalized cutis laxa, findings associated with generalized connective tissue disorder, developmental delays, and a variety of neurologic findings including abnormality on brain MRI. At birth, hypotonia, overfolded skin, and distinctive facial features are present and enlarged fontanelles are often observed. During childhood, the characteristic facial features and thick or coarse hair may become quite pronounced. The skin findings decrease with age, although easy bruising and Ehlers-Danlos-like scars have been described in some. In most (not all) affected individuals, cortical and cerebellar malformations are observed on brain MRI. Nearly all affected individuals have developmental delays, seizures, and neurologic regression.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/98030">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_98034"><div><strong>GAPO syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>98034</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0406723</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">GAPO syndrome is the acronymic designation for a complex of growth retardation, alopecia, pseudoanodontia (failure of tooth eruption), and progressive optic atrophy (Tipton and Gorlin, 1984). Ilker et al. (1999) and Bayram et al. (2014) noted that optic atrophy is not a consistent feature of the disorder.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/98034">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)&#10;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_340816"><div><strong>Spondylometaphyseal dysplasia, Sedaghatian type</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>340816</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C1855229</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Sedaghatian-type spondylometaphyseal dysplasia (SMDS) is a rare lethal disorder characterized by severe metaphyseal chondrodysplasia with mild limb shortening, platyspondyly, delayed epiphyseal ossification, irregular iliac crests, and pulmonary hemorrhage. Affected infants present with severe hypotonia and cardiorespiratory problems; most die within days of birth due to respiratory failure. Cardiac abnormalities include conduction defects, complete heart block, and structural anomalies. Half of infants with SMDS are reported to have central nervous system malformations consistent with abnormal neuronal migration, including agenesis of the corpus callosum, pronounced frontotemporal pachygyria, simplified gyral pattern, partial lissencephaly, and severe cerebellar hypoplasia (summary by Smith et al., 2014).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/340816">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_395439"><div><strong>Ablepharon macrostomia syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>395439</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C1860224</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Ablepharon-macrostomia syndrome (AMS) is a congenital ectodermal dysplasia characterized by absent eyelids, macrostomia, microtia, redundant skin, sparse hair, dysmorphic nose and ears, variable abnormalities of the nipples, genitalia, fingers, and hands, largely normal intellectual and motor development, and poor growth (summary by Marchegiani et al., 2015).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/395439">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_349931"><div><strong>Noonan syndrome 3</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>349931</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C1860991</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Noonan syndrome (NS) is characterized by characteristic facies, short stature, congenital heart defect, and developmental delay of variable degree. Other findings can include broad or webbed neck, unusual chest shape with superior pectus carinatum and inferior pectus excavatum, cryptorchidism, varied coagulation defects, lymphatic dysplasias, and ocular abnormalities. Although birth length is usually normal, final adult height approaches the lower limit of normal. Congenital heart disease occurs in 50%-80% of individuals. Pulmonary valve stenosis, often with dysplasia, is the most common heart defect and is found in 20%-50% of individuals. Hypertrophic cardiomyopathy, found in 20%-30% of individuals, may be present at birth or develop in infancy or childhood. Other structural defects include atrial and ventricular septal defects, branch pulmonary artery stenosis, and tetralogy of Fallot. Up to one fourth of affected individuals have mild intellectual disability, and language impairments in general are more common in NS than in the general population.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/349931">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_393098"><div><strong>Severe achondroplasia-developmental delay-acanthosis nigricans syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>393098</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C2674173</a></dd><dt><span class="dotprefix"></span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
<div class="spaceAbove">SADDAN dysplasia (severe achondroplasia with developmental delay and acanthosis nigricans) is a very rare skeletal dysplasia characterized by the constellation of these features. Radiology reveals 'ram's horn' shaped clavicles and reverse bowing of lower limbs. Approximately half of patients die before the fourth week of life secondary to respiratory failure (summary by Zankl et al., 2008).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/393098">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_394125"><div><strong>Fontaine progeroid syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>394125</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C2676780</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">SLC25A24 Fontaine progeroid syndrome is a multisystem connective tissue disorder characterized by poor growth, abnormal skeletal features, and distinctive craniofacial features with sagging, thin skin, and decreased subcutaneous fat suggesting an aged appearance that is most pronounced in infancy and improves with time. Characteristic radiographic features include turribrachycephaly with widely open anterior fontanelle, craniosynostosis, and anomalies of the terminal phalanges. Cardiovascular, genitourinary, ocular, and gastrointestinal abnormalities may also occur. To date, 13 individuals with a molecularly confirmed diagnosis of SLC25A24 Fontaine progeroid syndrome have been described.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/394125">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_397792"><div><strong>Ehlers-Danlos syndrome, dermatosparaxis type</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>397792</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C2700425</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Dermatosparaxis (meaning 'tearing of skin') is an autosomal recessive disorder of connective tissue resulting from deficiency of procollagen peptidase, an enzyme that aids in the processing of type I procollagen. The disorder and the responsible biochemical defect was first observed in cattle (Lapiere et al., 1971). Lapiere and Nusgens (1993) reviewed the discovery of dermatosparaxis in cattle, the elucidation of the disorder, its occurrence in other animals, and the delayed recognition of the disorder in the human.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/397792">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_442566"><div><strong>Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>442566</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C2750804</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">LTBP4-related cutis laxa is characterized by cutis laxa, early childhood-onset pulmonary emphysema, peripheral pulmonary artery stenosis, and other evidence of a generalized connective tissue disorder such as inguinal hernias and hollow visceral diverticula (e.g., intestine, bladder). Other manifestations can include pyloric stenosis, diaphragmatic hernia, rectal prolapse, gastrointestinal elongation/tortuosity, cardiovascular abnormality, pulmonary hypertension, hypotonia and frequent pulmonary infections. Bladder diverticula and hydronephrosis are common. Early demise has been associated with pulmonary emphysema.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/442566">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_416526"><div><strong>RIN2 syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>416526</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C2751321</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">MACS syndrome is an autosomal recessive connective tissue disorder named for the variable features of macrocephaly, alopecia, cutis laxa, and scoliosis (summary by Kameli et al., 2020).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/416526">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_414526"><div><strong>Autosomal recessive cutis laxa type 2B</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>414526</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C2751987</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">The phenotype of autosomal recessive cutis laxa type II (ARCL2) includes cutis laxa of variable severity, abnormal growth, developmental delay, and associated skeletal abnormalities (summary by Morava et al., 2009). No specific clinical features distinguish ARCL2A (219200), which includes a glycosylation defect, and ARCL2B, in which abnormal glycosylation has not been reported (Morava et al., 2009; Guernsey et al., 2009).&#13; For a phenotypic description and discussion of genetic heterogeneity of autosomal recessive cutis laxa, see ARCL1A (219100).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/414526">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_477078"><div><strong>Ogden syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>477078</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C3275447</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Ogden syndrome (OGDNS) is an X-linked neurodevelopmental disorder characterized by postnatal growth failure, severely delayed psychomotor development, variable dysmorphic features, and hypotonia. Many patients also have cardiac malformations or arrhythmias (summary by Popp et al., 2015).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/477078">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_478169"><div><strong>Cutis laxa, autosomal dominant 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>478169</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C3276539</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">FBLN5-related cutis laxa is characterized by cutis laxa, early childhood-onset pulmonary emphysema, peripheral pulmonary artery stenosis, and other evidence of a generalized connective disorder such as inguinal hernias and hollow viscus diverticula (e.g., intestine, bladder). Occasionally, supravalvar aortic stenosis is observed. Intrafamilial variability in age of onset is observed. Cardiorespiratory failure from complications of pulmonary emphysema (respiratory or cardiac insufficiency) is the most common cause of death.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/478169">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_816689"><div><strong>Renal hypodysplasia/aplasia 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>816689</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C3810359</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Renal hypodysplasia/aplasia belongs to a group of perinatally lethal renal diseases, including bilateral renal aplasia, unilateral renal agenesis with contralateral dysplasia (URA/RD), and severe obstructive uropathy. Renal aplasia falls at the most severe end of the spectrum of congenital anomalies of the kidney and urinary tract (CAKUT; 610805), and usually results in death in utero or in the perinatal period. Families have been documented in which bilateral renal agenesis or aplasia coexists with unilateral renal aplasia, renal dysplasia, or renal aplasia with renal dysplasia, suggesting that these conditions may belong to a pathogenic continuum or phenotypic spectrum (summary by Joss et al., 2003; Humbert et al., 2014).&#13; For a discussion of genetic heterogeneity of renal hypodysplasia/aplasia, see RHDA1 (191830).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/816689">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1376619"><div><strong>Autosomal recessive cutis laxa type 2D</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1376619</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C4479409</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Autosomal recessive cutis laxa type IID (ARCL2D) is characterized by generalized skin wrinkling with sparse subcutaneous fat and dysmorphic progeroid facial features. Most patients also exhibit severe hypotonia as well as cardiovascular and neurologic involvement (summary by Van Damme et al., 2017).&#13; For a general phenotypic description and a discussion of genetic heterogeneity of autosomal recessive cutis laxa, see ARCL1A (219100).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1376619">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1388282"><div><strong>Rahman syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1388282</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C4479637</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">The name HIST1H1E syndrome has been proposed as a mnemonic for the characteristic features of this emerging, recognizable phenotype: hypotonia; intellectual disability with behavioral issues; skeletal; testes (undescended) and thyroid; heart anomalies (most commonly atrial septal defect); and ectodermal issues (including sparse hair, thin nails, and abnormal dentition). In the 47 affected individuals reported to date, predominant findings were intellectual disability (ranging from mild to profound) and behavioral issues (combinations of anxiety/phobias, obsessive behaviors, attention-deficit/hyperactivity disorder, and autistic spectrum disorder/traits among others). Skeletal involvement can include scoliosis and decreased bone mineral density. Other findings in some include seizures, craniosynostosis, and hearing loss. Life expectancy does not appear to be reduced in HIST1H1E syndrome.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1388282">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1641972"><div><strong>Hypertrophic osteoarthropathy, primary, autosomal recessive, 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1641972</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C4551679</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Autosomal recessive primary hypertrophic osteoarthropathy-1 (PHOAR1) is a rare familial disorder characterized by digital clubbing, osteoarthropathy, and acroosteolysis, with variable features of pachydermia, delayed closure of the fontanels, and congenital heart disease (summary by Uppal et al., 2008; Radhakrishnan et al., 2020).&#13; Secondary hypertrophic osteoarthropathy, or pulmonary hypertrophic osteoarthropathy, is a different disorder characterized by digital clubbing secondary to acquired diseases, most commonly intrathoracic neoplasm (Uppal et al., 2008).&#13; Touraine et al. (1935) recognized pachydermoperiostosis as a familial disorder with 3 clinical presentations or forms: a complete form characterized by periostosis and pachydermia; an incomplete form with bone changes but without pachydermia; and a 'forme fruste' with pachydermia and minimal skeletal changes.&#13; Genetic Heterogeneity&#13; Autosomal recessive primary hypertrophic osteoarthropathy-2-enteropathy syndrome (PHOAR2E; 614441) is caused by mutation in the SLCO2A1 gene (601460) on chromosome 3q22.&#13; Families with an autosomal dominant form of primary hypertrophic osteoarthropathy, in which patients may also experience gastrointestinal symptoms, have been reported (PHOAD; 167100).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1641972">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1632001"><div><strong>Ehlers-Danlos syndrome, classic-like, 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1632001</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C4693870</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Ehlers-Danlos syndrome classic-like-2 (EDSCLL2) is characterized by severe joint and skin laxity, osteoporosis involving the hips and spine, osteoarthritis, soft redundant skin that can be acrogeria-like, delayed wound healing with abnormal atrophic scarring, and shoulder, hip, knee, and ankle dislocations. Variable features include gastrointestinal and genitourinary manifestations, such as bowel rupture, gut dysmotility, cryptorchidism, and hernias; vascular complications, such as mitral valve prolapse and aortic root dilation; and skeletal anomalies (Blackburn et al., 2018).&#13; For a discussion of genetic heterogeneity of classic-like Ehlers-Danlos syndrome, see 606408.&#13; For a discussion of the classification of EDS, see 130000.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1632001">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1648313"><div><strong>Mitochondrial complex 1 deficiency, nuclear type 30</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1648313</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C4746985</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/1648313">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1846304"><div><strong>Cutis laxa, autosomal recessive, type 1A</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1846304</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C5848058</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">FBLN5-related cutis laxa is characterized by cutis laxa, early childhood-onset pulmonary emphysema, peripheral pulmonary artery stenosis, and other evidence of a generalized connective disorder such as inguinal hernias and hollow viscus diverticula (e.g., intestine, bladder). Occasionally, supravalvar aortic stenosis is observed. Intrafamilial variability in age of onset is observed. Cardiorespiratory failure from complications of pulmonary emphysema (respiratory or cardiac insufficiency) is the most common cause of death.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1846304">Condition Record</a></div></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_395439" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ablepharon macrostomia syndrome</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_414526" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal recessive cutis laxa type 2B</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1376619" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal recessive cutis laxa type 2D</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_82795" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cutis laxa with osteodystrophy</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (23)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_442566" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_478169" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cutis laxa, autosomal dominant 1</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1846304" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cutis laxa, autosomal recessive, type 1A</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_82793" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cutis laxa, X-linked</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1632001" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ehlers-Danlos syndrome, classic-like, 2</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_397792" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ehlers-Danlos syndrome, dermatosparaxis type</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_394125" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Fontaine progeroid syndrome</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_98034" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">GAPO syndrome</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1641972" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypertrophic osteoarthropathy, primary, autosomal recessive, 1</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1648313" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mitochondrial complex 1 deficiency, nuclear type 30</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_349931" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Noonan syndrome 3</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_477078" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ogden syndrome</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1388282" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Rahman syndrome</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_816689" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Renal hypodysplasia/aplasia 2</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_416526" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">RIN2 syndrome</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_393098" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Severe achondroplasia-developmental delay-acanthosis nigricans syndrome</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_340816" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spondylometaphyseal dysplasia, Sedaghatian type</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_98030" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Wrinkly skin syndrome</a></div></span></div></div>
</div>
<div class="portlet mgSection" id="ID_105">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
<div class="nl"><a target="_blank" href="/pubmed/31610858">Skin changes and manifestations associated with the treatment of obesity.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Rosen J,
Darwin E,
Tuchayi SM,
Garibyan L,
Yosipovitch G</span><br />
<span class="medgenPMjournal">J Am Acad Dermatol</span>
2019 Nov;81(5):1059-1069.
doi: 10.1016/j.jaad.2018.10.081.
<span class="bold">PMID: </span><a href="/pubmed/31610858" target="_blank">31610858</a></div>
<div class="nl"><a target="_blank" href="/pubmed/25950113">Infantile Hemangioma: Clinical Characteristics and Efficacy of Treatment with the Long-Pulsed 1,064-nm Neodymium-Doped Yttrium Aluminum Garnet Laser in 794 Chinese Patients.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Zhong SX,
Tao YC,
Zhou JF,
Liu YY,
Yao L,
Li SS</span><br />
<span class="medgenPMjournal">Pediatr Dermatol</span>
2015 Jul-Aug;32(4):495-500.
Epub 2015 May 7
doi: 10.1111/pde.12593.
<span class="bold">PMID: </span><a href="/pubmed/25950113" target="_blank">25950113</a></div>
<div class="nl"><a target="_blank" href="/pubmed/19540079">Incidence and treatment of complications, suboptimal outcomes, and functional deficiencies after pollicization.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Goldfarb CA,
Monroe E,
Steffen J,
Manske PR</span><br />
<span class="medgenPMjournal">J Hand Surg Am</span>
2009 Sep;34(7):1291-7.
Epub 2009 Jun 18
doi: 10.1016/j.jhsa.2009.04.001.
<span class="bold">PMID: </span><a href="/pubmed/19540079" target="_blank">19540079</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22redundant%20skin%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 (9)</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/31913894">Reconstruction of Large Ptotic Breasts After Nipple-Sparing Mastectomy: A Modified Buttonhole Technique.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Oven SD,
Scarlett WL</span><br />
<span class="medgenPMjournal">Ann Plast Surg</span>
2020 Sep;85(3):233-236.
doi: 10.1097/SAP.0000000000002161.
<span class="bold">PMID: </span><a href="/pubmed/31913894" target="_blank">31913894</a></div>
<div class="nl"><a target="_blank" href="/pubmed/30447832">Arm Contouring in the Massive-Weight-Loss Patient.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Myers PL,
Bossert RP</span><br />
<span class="medgenPMjournal">Clin Plast Surg</span>
2019 Jan;46(1):85-90.
Epub 2018 Oct 22
doi: 10.1016/j.cps.2018.08.011.
<span class="bold">PMID: </span><a href="/pubmed/30447832" target="_blank">30447832</a></div>
<div class="nl"><a target="_blank" href="/pubmed/18461422">Circumferential abdominoplasty.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Dini M,
Mori A,
Cassi LC,
Lo Russo G,
Lucchese M</span><br />
<span class="medgenPMjournal">Obes Surg</span>
2008 Nov;18(11):1392-9.
Epub 2008 May 7
doi: 10.1007/s11695-008-9498-7.
<span class="bold">PMID: </span><a href="/pubmed/18461422" target="_blank">18461422</a></div>
<div class="nl"><a target="_blank" href="/pubmed/15334280">Face-lifting: an overview.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Moody BR,
Sengelmann R</span><br />
<span class="medgenPMjournal">Skin Therapy Lett</span>
2004 Jun-Jul;9(6):6-9.
<span class="bold">PMID: </span><a href="/pubmed/15334280" target="_blank">15334280</a></div>
<div class="nl"><a target="_blank" href="/pubmed/913905">Ablepheron macrostomia syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">McCarthy GT,
West CM</span><br />
<span class="medgenPMjournal">Dev Med Child Neurol</span>
1977 Oct;19(5):659-63.
doi: 10.1111/j.1469-8749.1977.tb07999.x.
<span class="bold">PMID: </span><a href="/pubmed/913905" target="_blank">913905</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Redundant%20skin%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 (110)</a></div><h3 class="subhead">Diagnosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/36114141">Clinical and genetical diagnosis of a case of Meretoja syndrome and frontotemporal lifting procedure.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Galindo-Bocero J,
García-Martínez I,
Portillo M,
Hernando Acero I,
García-González N</span><br />
<span class="medgenPMjournal">Arch Soc Esp Oftalmol (Engl Ed)</span>
2022 Oct;97(10):583-586.
Epub 2022 Sep 13
doi: 10.1016/j.oftale.2022.08.004.
<span class="bold">PMID: </span><a href="/pubmed/36114141" target="_blank">36114141</a></div>
<div class="nl"><a target="_blank" href="/pubmed/29364450">Rapidly involuting congenital hemangioma.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Brás S,
Mendes-Bastos P,
Amaro C</span><br />
<span class="medgenPMjournal">An Bras Dermatol</span>
2017 Nov-Dec;92(6):861-863.
doi: 10.1590/abd1806-4841.20175608.
<span class="bold">PMID: </span><a href="/pubmed/29364450" target="_blank">29364450</a><a href="/pmc/articles/PMC5786408" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/19281712">Pseudoxanthoma elasticum.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Moreira AP,
Feijó FS,
Pinto JM,
Martinelli IL,
Rochael MC</span><br />
<span class="medgenPMjournal">Dermatol Online J</span>
2009 Jan 15;15(1):7.
<span class="bold">PMID: </span><a href="/pubmed/19281712" target="_blank">19281712</a></div>
<div class="nl"><a target="_blank" href="/pubmed/9541110">Costello syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Philip N,
Sigaudy S</span><br />
<span class="medgenPMjournal">J Med Genet</span>
1998 Mar;35(3):238-40.
doi: 10.1136/jmg.35.3.238.
<span class="bold">PMID: </span><a href="/pubmed/9541110" target="_blank">9541110</a><a href="/pmc/articles/PMC1051249" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/913905">Ablepheron macrostomia syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">McCarthy GT,
West CM</span><br />
<span class="medgenPMjournal">Dev Med Child Neurol</span>
1977 Oct;19(5):659-63.
doi: 10.1111/j.1469-8749.1977.tb07999.x.
<span class="bold">PMID: </span><a href="/pubmed/913905" target="_blank">913905</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Redundant%20skin%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 (66)</a></div><h3 class="subhead">Therapy</h3>
<div class="nl"><a target="_blank" href="/pubmed/37093978">Alternative Abdominal Wall Plication Techniques: A Review of Current Literature.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Gilbert MM,
Anderson SR,
Abtahi AR</span><br />
<span class="medgenPMjournal">Aesthet Surg J</span>
2023 Jul 15;43(8):856-868.
doi: 10.1093/asj/sjad112.
<span class="bold">PMID: </span><a href="/pubmed/37093978" target="_blank">37093978</a></div>
<div class="nl"><a target="_blank" href="/pubmed/34245526">Primary nonessential cutis verticis gyrata with acne keloidalis nuchae.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Nachinolcar SN,
Pai V,
Shukla P,
Muthuprabhakaran K</span><br />
<span class="medgenPMjournal">Indian J Dermatol Venereol Leprol</span>
2021 Sep-Oct;87(5):748.
doi: 10.25259/IJDVL_1050_19.
<span class="bold">PMID: </span><a href="/pubmed/34245526" target="_blank">34245526</a></div>
<div class="nl"><a target="_blank" href="/pubmed/31610858">Skin changes and manifestations associated with the treatment of obesity.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Rosen J,
Darwin E,
Tuchayi SM,
Garibyan L,
Yosipovitch G</span><br />
<span class="medgenPMjournal">J Am Acad Dermatol</span>
2019 Nov;81(5):1059-1069.
doi: 10.1016/j.jaad.2018.10.081.
<span class="bold">PMID: </span><a href="/pubmed/31610858" target="_blank">31610858</a></div>
<div class="nl"><a target="_blank" href="/pubmed/31248653">Vacuum-assisted minimally invasive surgery-An innovative method for the operative treatment of gynecomastia.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Yao Y,
Yang Y,
Liu J,
Wang Y,
Zhao Y</span><br />
<span class="medgenPMjournal">Surgery</span>
2019 Nov;166(5):934-939.
Epub 2019 Jun 24
doi: 10.1016/j.surg.2019.04.032.
<span class="bold">PMID: </span><a href="/pubmed/31248653" target="_blank">31248653</a></div>
<div class="nl"><a target="_blank" href="/pubmed/27917661">A technique for minimising the redundant skin of a mastectomy scar and improving cosmesis for delayed reconstruction.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Tuffaha H,
Hussien M</span><br />
<span class="medgenPMjournal">Ann R Coll Surg Engl</span>
2017 Mar;99(3):252-253.
Epub 2016 Dec 5
doi: 10.1308/rcsann.2016.0360.
<span class="bold">PMID: </span><a href="/pubmed/27917661" target="_blank">27917661</a><a href="/pmc/articles/PMC5450287" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Redundant%20skin%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 (52)</a></div><h3 class="subhead">Prognosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/31248653">Vacuum-assisted minimally invasive surgery-An innovative method for the operative treatment of gynecomastia.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Yao Y,
Yang Y,
Liu J,
Wang Y,
Zhao Y</span><br />
<span class="medgenPMjournal">Surgery</span>
2019 Nov;166(5):934-939.
Epub 2019 Jun 24
doi: 10.1016/j.surg.2019.04.032.
<span class="bold">PMID: </span><a href="/pubmed/31248653" target="_blank">31248653</a></div>
<div class="nl"><a target="_blank" href="/pubmed/30447831">Bra-Line Back Lift.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Hunstad J,
Chen C,
Abbed T</span><br />
<span class="medgenPMjournal">Clin Plast Surg</span>
2019 Jan;46(1):77-84.
Epub 2018 Oct 22
doi: 10.1016/j.cps.2018.08.010.
<span class="bold">PMID: </span><a href="/pubmed/30447831" target="_blank">30447831</a></div>
<div class="nl"><a target="_blank" href="/pubmed/29364450">Rapidly involuting congenital hemangioma.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Brás S,
Mendes-Bastos P,
Amaro C</span><br />
<span class="medgenPMjournal">An Bras Dermatol</span>
2017 Nov-Dec;92(6):861-863.
doi: 10.1590/abd1806-4841.20175608.
<span class="bold">PMID: </span><a href="/pubmed/29364450" target="_blank">29364450</a><a href="/pmc/articles/PMC5786408" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/18461422">Circumferential abdominoplasty.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Dini M,
Mori A,
Cassi LC,
Lo Russo G,
Lucchese M</span><br />
<span class="medgenPMjournal">Obes Surg</span>
2008 Nov;18(11):1392-9.
Epub 2008 May 7
doi: 10.1007/s11695-008-9498-7.
<span class="bold">PMID: </span><a href="/pubmed/18461422" target="_blank">18461422</a></div>
<div class="nl"><a target="_blank" href="/pubmed/913905">Ablepheron macrostomia syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">McCarthy GT,
West CM</span><br />
<span class="medgenPMjournal">Dev Med Child Neurol</span>
1977 Oct;19(5):659-63.
doi: 10.1111/j.1469-8749.1977.tb07999.x.
<span class="bold">PMID: </span><a href="/pubmed/913905" target="_blank">913905</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Redundant%20skin%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 (68)</a></div><h3 class="subhead">Clinical prediction guides</h3>
<div class="nl"><a target="_blank" href="/pubmed/31248653">Vacuum-assisted minimally invasive surgery-An innovative method for the operative treatment of gynecomastia.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Yao Y,
Yang Y,
Liu J,
Wang Y,
Zhao Y</span><br />
<span class="medgenPMjournal">Surgery</span>
2019 Nov;166(5):934-939.
Epub 2019 Jun 24
doi: 10.1016/j.surg.2019.04.032.
<span class="bold">PMID: </span><a href="/pubmed/31248653" target="_blank">31248653</a></div>
<div class="nl"><a target="_blank" href="/pubmed/30447831">Bra-Line Back Lift.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Hunstad J,
Chen C,
Abbed T</span><br />
<span class="medgenPMjournal">Clin Plast Surg</span>
2019 Jan;46(1):77-84.
Epub 2018 Oct 22
doi: 10.1016/j.cps.2018.08.010.
<span class="bold">PMID: </span><a href="/pubmed/30447831" target="_blank">30447831</a></div>
<div class="nl"><a target="_blank" href="/pubmed/29409103">Upper Lid Thick Skin Blepharoplasty.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Pastorek N,
Bradford B</span><br />
<span class="medgenPMjournal">Facial Plast Surg</span>
2018 Feb;34(1):43-49.
Epub 2018 Feb 6
doi: 10.1055/s-0037-1615824.
<span class="bold">PMID: </span><a href="/pubmed/29409103" target="_blank">29409103</a></div>
<div class="nl"><a target="_blank" href="/pubmed/28708441">Safe monsplasty technique.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Patoué A,
De Runz A,
Carloni R,
Aillet S,
Watier E,
Bertheuil N</span><br />
<span class="medgenPMjournal">J Plast Surg Hand Surg</span>
2018 Apr;52(2):74-79.
Epub 2017 Jul 14
doi: 10.1080/2000656X.2017.1335642.
<span class="bold">PMID: </span><a href="/pubmed/28708441" target="_blank">28708441</a></div>
<div class="nl"><a target="_blank" href="/pubmed/25701271">Breast Reshaping Following Bariatric Surgery.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Vindigni V,
Scarpa C,
Tommasini A,
Toffanin MC,
Masetto L,
Pavan C,
Bassetto F</span><br />
<span class="medgenPMjournal">Obes Surg</span>
2015 Sep;25(9):1735-40.
doi: 10.1007/s11695-015-1613-y.
<span class="bold">PMID: </span><a href="/pubmed/25701271" target="_blank">25701271</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Redundant%20skin%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 (57)</a></div></div>
</div>
<div class="portlet mgSection" id="ID_104">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln">
<div class="nl"><a target="_blank" href="/pubmed/38163788">Fish-tail Plasty: A Secure Technique to Enhance Cosmesis at the Lateral End of Mastectomy Scar and Prevent Dog Ear.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Majumder KR,
Shrivastava A,
Maitra D,
Siddique MI,
Rahman MM</span><br />
<span class="medgenPMjournal">Mymensingh Med J</span>
2024 Jan;33(1):160-167.
<span class="bold">PMID: </span><a href="/pubmed/38163788" target="_blank">38163788</a></div>
<div class="nl"><a target="_blank" href="/pubmed/30069862">Does Body Contouring After Bariatric Weight Loss Enhance Quality of Life? A Systematic Review of QOL Studies.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Toma T,
Harling L,
Athanasiou T,
Darzi A,
Ashrafian H</span><br />
<span class="medgenPMjournal">Obes Surg</span>
2018 Oct;28(10):3333-3341.
doi: 10.1007/s11695-018-3323-8.
<span class="bold">PMID: </span><a href="/pubmed/30069862" target="_blank">30069862</a><a href="/pmc/articles/PMC6153583" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Redundant%20skin%22%20AND%20systematic%5Bsb%5D%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (2)</a></div></div>
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<h2 class="offscreen_noflow">Supplemental Content</h2>
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<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>
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