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<meta name="keywords" content="C0242292, albright syndrome, albright's disease, albright's disease of bone, albright's syndrome, albright's syndrome with precocious puberty, albright-mccune-sternberg syndrome, albright-sternberg syndrome, disease or syndrome, fibrous dysplasia with pigmentary skin changes and precocious puberty, gnas, gonadotropin-independent female-limited sexual precocity, mas, mccune albright syndrome, mccune-albright syndrome, mccune-albright syndrome, somatic, mosaic, pfd, pofd, polyostotic fibrous dysplasia, syndrome, albright, syndrome, albright's, syndrome, mccune-albright, 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="Fibrous dysplasia / McCune-Albright syndrome (FD/MAS), the result of an early embryonic postzygotic somatic activating pathogenic variant in GNAS (encoding the cAMP pathway-associated G protein Gas [Gs alpha subunit]), is characterized by involvement of the skin, skeleton, and certain endocrine organs. However, because Gas signaling is ubiquitous, additional tissues may be affected. Hyperpigmented skin macules are common and are usually the first manifestation of the disease, apparent at or shortly after birth. Fibrous dysplasia (FD), which can involve any part and combination of the craniofacial, axial, and/or appendicular skeleton, can range from an isolated, asymptomatic monostotic lesion discovered incidentally to severe, disabling polyostotic disease involving practically the entire skeleton and leading to progressive scoliosis, facial deformity, and loss of mobility, vision, and/or hearing. Endocrinopathies include gonadotropin-independent precocious puberty resulting from recurrent ovarian cysts in girls and autonomous testosterone production in boys; testicular lesions with or without associated gonadotropin-independent precocious puberty; thyroid lesions with or without non-autoimmune hyperthyroidism; growth hormone excess; FGF23-mediated phosphate wasting with or without hypophosphatemia in association with fibrous dysplasia; and neonatal hypercortisolism." /><meta name="robots" content="index,nofollow,noarchive" />
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<title>McCune-Albright syndrome (Concept Id: C0242292)
- MedGen - NCBI</title>
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<!--imgCountBooks = 17--><div class="ncbi_carousel" data-ncbicarousel-config="imageWidth:'100px',numItemsVisible:2,toggler:false"><div class="nc_header"><span class="img_strip_title">Images (17)</span></div><div class="nc_content"><div class="nc_item"><a class="figpopup"><img alt="Image from GeneReviews" src="/books/NBK274564/bin/mccune-albright-Image017.gif" src-large="/books/NBK274564/bin/mccune-albright-Image017.jpg" /></a><br /><a href="/books/NBK274564/figure/mccune-albright.F4/" title="GeneReviews" target="_blank">details</a></div><div class="nc_item"><a class="figpopup"><img alt="Image from GeneReviews" src="/books/NBK274564/bin/mccune-albright-Image014.gif" src-large="/books/NBK274564/bin/mccune-albright-Image014.jpg" /></a><br /><a href="/books/NBK274564/figure/mccune-albright.F1/" title="GeneReviews" target="_blank">details</a></div><div class="nc_item"><a class="figpopup"><img alt="Image from GeneReviews" src="/books/NBK274564/bin/mccune-albright-Image012.gif" 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href="/books/NBK274564/figure/mccune-albright.F9/" title="GeneReviews" target="_blank">details</a></div><div class="nc_item"><a class="figpopup"><img alt="Image from GeneReviews" src="/books/NBK274564/bin/mccune-albright-Image004.gif" src-large="/books/NBK274564/bin/mccune-albright-Image004.jpg" /></a><br /><a href="/books/NBK274564/figure/mccune-albright.F8/" title="GeneReviews" target="_blank">details</a></div><div class="nc_item"><a class="figpopup"><img alt="Image from GeneReviews" src="/books/NBK274564/bin/mccune-albright-Image015.gif" src-large="/books/NBK274564/bin/mccune-albright-Image015.jpg" /></a><br /><a href="/books/NBK274564/figure/mccune-albright.F2/" title="GeneReviews" target="_blank">details</a></div><div class="nc_item"><a class="figpopup"><img alt="Image from GeneReviews" src="/books/NBK274564/bin/mccune-albright-Image003.gif" src-large="/books/NBK274564/bin/mccune-albright-Image003.jpg" /></a><br /><a href="/books/NBK274564/figure/mccune-albright.F7/" title="GeneReviews" target="_blank">details</a></div><div class="nc_item"><a class="figpopup"><img alt="Image from GeneReviews" src="/books/NBK274564/bin/mccune-albright-Image013.gif" src-large="/books/NBK274564/bin/mccune-albright-Image013.jpg" /></a><br /><a href="/books/NBK274564/figure/mccune-albright.F17/" title="GeneReviews" target="_blank">details</a></div><div class="nc_item"><a class="figpopup"><img alt="Image from GeneReviews" src="/books/NBK274564/bin/mccune-albright-Image001.gif" src-large="/books/NBK274564/bin/mccune-albright-Image001.jpg" /></a><br /><a href="/books/NBK274564/figure/mccune-albright.F5/" title="GeneReviews" target="_blank">details</a></div><div class="nc_item"><a class="figpopup"><img alt="Image from GeneReviews" src="/books/NBK274564/bin/mccune-albright-Image007.gif" src-large="/books/NBK274564/bin/mccune-albright-Image007.jpg" /></a><br /><a href="/books/NBK274564/figure/mccune-albright.F11/" title="GeneReviews" target="_blank">details</a></div><div class="nc_item"><a class="figpopup"><img alt="Image from GeneReviews" src="/books/NBK274564/bin/mccune-albright-Image002.gif" src-large="/books/NBK274564/bin/mccune-albright-Image002.jpg" /></a><br /><a href="/books/NBK274564/figure/mccune-albright.F6/" title="GeneReviews" target="_blank">details</a></div><div class="nc_item"><a class="figpopup"><img alt="Image from GeneReviews" src="/books/NBK274564/bin/mccune-albright-Image016.gif" src-large="/books/NBK274564/bin/mccune-albright-Image016.jpg" /></a><br /><a href="/books/NBK274564/figure/mccune-albright.F3/" title="GeneReviews" target="_blank">details</a></div></div></div><h1 class="medgenTitle"><div class="MedGenTitleText">McCune-Albright syndrome<span class="h1sub">(MAS)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>69164</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information."><span class="highlight" style="background-color:">C0242292</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
<td>ALBRIGHT SYNDROME; Albright's disease; Albright's Syndrome; MAS; McCune-Albright syndrome, somatic, mosaic</td></tr>
<tr><td><span class="bold">SNOMED CT: </span></td>
<td>McCune Albright syndrome (726029005); Albright's disease of bone (36517007); Albright syndrome (36517007)</td></tr>
<tr><td>Modes of inheritance:</td>
<td>
<div class="divPopper rprt" id="moi_988794"><div><strong>Not genetically inherited</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>988794</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier assigned by MedGen (starting with CN) for terms&#10;that cannot be identified in NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">CN307044</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Source: Orphanet</div>
<div class="spaceAbove">clinical entity without genetic inheritance.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/988794">This record</a></div></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_988794" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Not genetically inherited</a><span> (Orphanet)</span></div></td></tr>
<tr><td colspan="2" class="small"> </td></tr><tr><td><a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#target-gene-loc">Gene (location):<img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div class="display-none" id="target-gene-loc">
Gene(s) directly associated with<br />
this condition or phenotype.</div></td>
<td><a target="_blank" title="GNAS - ID: 2778 - NCBI Gene" href="/gene/2778" class="medgenPMinfo">GNAS</a> (20q13.32)</td></tr>
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
<td><a href="https://monarchinitiative.org/disease/MONDO:0018919" target="_blank">MONDO:0018919</a></td></tr>
<tr><td>OMIM<span class="superscript">®</span>:</td>
<td><a href="https://omim.org/entry/174800" target="_blank">174800</a></td></tr>
<tr><td>Orphanet:</td>
<td><a target="_blank" title="Orphanet: The portal for rare diseases and orphan drugs" href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&amp;Expert=562">ORPHA562</a></td></tr></tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
<div class="portlet mgSection" id="ID_101">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Disease_characteristics">Disease characteristics</h1><a sid="101" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln"><div class="excerpt">Excerpted from the <i>GeneReview: </i><a href="/books/NBK274564" target="_blank">Fibrous Dysplasia / McCune-Albright Syndrome</a></div><div>Fibrous dysplasia / McCune-Albright syndrome (FD/MAS), the result of an early embryonic postzygotic somatic activating pathogenic variant in GNAS (encoding the cAMP pathway-associated G protein Gαs [Gs alpha subunit]), is characterized by involvement of the skin, skeleton, and certain endocrine organs. However, because Gαs signaling is ubiquitous, additional tissues may be affected. Hyperpigmented skin macules are common and are usually the first manifestation of the disease, apparent at or shortly after birth. Fibrous dysplasia (FD), which can involve any part and combination of the craniofacial, axial, and/or appendicular skeleton, can range from an isolated, asymptomatic monostotic lesion discovered incidentally to severe, disabling polyostotic disease involving practically the entire skeleton and leading to progressive scoliosis, facial deformity, and loss of mobility, vision, and/or hearing. Endocrinopathies include gonadotropin-independent precocious puberty resulting from recurrent ovarian cysts in girls and autonomous testosterone production in boys; testicular lesions with or without associated gonadotropin-independent precocious puberty; thyroid lesions with or without non-autoimmune hyperthyroidism; growth hormone excess; FGF23-mediated phosphate wasting with or without hypophosphatemia in association with fibrous dysplasia; and neonatal hypercortisolism. [from <a title="GeneReviews" href="https://www.ncbi.nlm.nih.gov/books/NBK1116" class="defSource" target="_blank">GeneReviews</a>]</div><div class="spaceAbove"><strong>Full text of <i>GeneReview</i> (by section):</strong><br /><a class="medgenPMinfo" href="/books/NBK274564#mccune-albright.Summary" target="NBK274564">Summary</a>  |  <a class="medgenPMinfo" href="/books/NBK274564#mccune-albright.Diagnosis" target="NBK274564">Diagnosis</a>  |  <a class="medgenPMinfo" href="/books/NBK274564#mccune-albright.Clinical_Characteristics" target="NBK274564">Clinical Characteristics</a>  |  <a class="medgenPMinfo" href="/books/NBK274564#mccune-albright.Genetically_Related_Alle" target="NBK274564">Genetically Related (Allelic) Disorders</a>  |  <a class="medgenPMinfo" href="/books/NBK274564#mccune-albright.Differential_Diagnosis" target="NBK274564">Differential Diagnosis</a>  |  <a class="medgenPMinfo" href="/books/NBK274564#mccune-albright.Management" target="NBK274564">Management</a>  |  <a class="medgenPMinfo" href="/books/NBK274564#mccune-albright.Genetic_Counseling" target="NBK274564">Genetic Counseling</a>  |  <a class="medgenPMinfo" href="/books/NBK274564#mccune-albright.Resources" target="NBK274564">Resources</a>  |  <a class="medgenPMinfo" href="/books/NBK274564#mccune-albright.Molecular_Genetics" target="NBK274564">Molecular Genetics</a>  |  <a class="medgenPMinfo" href="/books/NBK274564#mccune-albright.Chapter_Notes" target="NBK274564">Chapter Notes</a>  |  <a class="medgenPMinfo" href="/books/NBK274564#mccune-albright.References" target="NBK274564">References</a></div><div class="spaceAbove"><strong>Authors:</strong><br />
Vivian Szymczuk  |  Pablo Florenzano  |  Luis F de Castro<i>, et. al.</i>   <a href="/books/NBK274564" target="NBK274564" title="NCBI Bookshelf: Fibrous Dysplasia / McCune-Albright Syndrome">view full author information</a></div></div>
</div>
<div class="portlet mgSection" id="ID_117">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Additional_descriptions">Additional descriptions</h1><a sid="117" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln"><div class="mgSection"><strong>From Medical Genetics Summaries</strong><br />McCune-Albright Syndrome (MAS) is a rare genetic disorder originally characterized as the triad of polyostotic fibrous dysplasia of bone, precocious puberty, and café-au-lait skin pigmentation. With time other associated endocrinopathies have been recognized, including hyperthyroidism, growth hormone excess, FGF23-mediated phosphate wasting, and hypercortisolism. MAS is caused by an activating mutation in the GNAS gene, which encodes the alpha subunit of the stimulatory G protein involved in G-protein signaling. A missense mutation, typically Arg201Cys or Arg201His (NM_001077488.3:c.604C&gt;T, rs11554273), impairs the intrinsic GTPase activity of the Gsα protein, resulting in the constitutive activation of the Gsα-cAMP signaling pathway in the cells that contain the mutation. The mutation arises early in embryogenesis and is distributed in a mosaic pattern. The clinical phenotype is therefore highly variable, depending upon the location and timing of the mutation during embryologic development. Skin manifestations are common and are usually present at or shortly after birth. The café-au-lait spots typically have irregular margins giving them a “coast of Maine” appearance, and usually show an association with the midline of the body. In MAS, fibrous dysplasia of bone typically occurs at several sites (polyostotic), and commonly presents with fracture, deformity and/or bone pain. Radiographs show characteristic expansile lesions with a “ground glass” appearance. Craniofacial fibrous dysplasia can be severe in individuals who have pituitary disorders leading to hypersecretion of growth hormone. Treatment can be challenging and should begin as soon as possible. In girls, precocious puberty is a common initial manifestation, with recurrent ovarian cysts leading to episodes of vaginal bleeding and breast development. Precocious puberty is less common in boys, presenting with penile enlargement, pubic and axillary hair, acne, body odor, and sexual behavior. However, in both girls and boys, there is a high frequency of gonadal pathology (ovarian abnormalities in girls, and testicular abnormalities in boys).  <a target="_blank" href="https://www.ncbi.nlm.nih.gov/books/NBK66130">https://www.ncbi.nlm.nih.gov/books/NBK66130</a></div><div class="mgSection"><strong>From OMIM</strong><br />Activating or gain-of-function GNAS1 mutations in patients with the McCune-Albright syndrome (MAS) are present in the mosaic state, resulting from a postzygotic somatic mutation appearing early in the course of development which yields a monoclonal population of mutated cells within variously affected tissues. The nonmosaic state for most activating mutations is presumably lethal to the embryo. The disorder is characterized clinically by the classic triad of polyostotic fibrous dysplasia (POFD), cafe-au-lait skin pigmentation, and peripheral precocious puberty. However, the disorder is clinically heterogeneous and can include various other endocrinologic anomalies such as thyrotoxicosis, pituitary gigantism, and Cushing syndrome (219080) (Lumbroso et al., 2004).  <a target="_blank" href="http://www.omim.org/entry/174800">http://www.omim.org/entry/174800</a></div><div class="mgSection"><strong>From MedlinePlus Genetics</strong><br />McCune-Albright syndrome is a disorder that affects the bones, skin, and several hormone-producing (endocrine) tissues.<br /><br />People with McCune-Albright syndrome develop areas of abnormal scar-like (fibrous) tissue in their bones, a condition called polyostotic fibrous dysplasia. Polyostotic means the abnormal areas (lesions) may occur in many bones; often they are confined to one side of the body. Replacement of bone with fibrous tissue may lead to fractures, uneven growth, and deformity. When lesions occur in the bones of the skull and jaw it can result in uneven (asymmetric) growth of the face. Asymmetry may also occur in the long bones; uneven growth of leg bones may cause limping. Abnormal curvature of the spine (scoliosis) may also occur. Bone lesions may become cancerous, but this happens in fewer than 1 percent of people with McCune-Albright syndrome.<br /><br />In addition to bone abnormalities, affected individuals usually have light brown patches of skin called café-au-lait spots, which may be present from birth. The irregular borders of the café-au-lait spots in McCune-Albright syndrome are often compared to a map of the coast of Maine. By contrast, café-au-lait spots in other disorders have smooth borders, which are compared to the coast of California. Like the bone lesions, the café-au-lait spots in McCune-Albright syndrome may appear on only one side of the body.<br /><br />Girls with McCune-Albright syndrome may reach puberty early. These girls often have menstrual bleeding by age 2. This early onset of menstruation is believed to be caused by excess estrogen, a female sex hormone, produced by cysts that develop in one of the ovaries. Less commonly, boys with McCune-Albright syndrome may also experience early puberty.<br /><br />Other endocrine problems may also occur in people with McCune-Albright syndrome. The thyroid gland, a butterfly-shaped organ at the base of the neck, may become enlarged (a condition called a goiter) or develop masses called nodules. About 50 percent of affected individuals produce excessive amounts of thyroid hormone (hyperthyroidism), resulting in a fast heart rate, high blood pressure, weight loss, tremors, sweating, and other symptoms. The pituitary gland (a structure at the base of the brain that makes several hormones) may produce too much growth hormone. Excess growth hormone can result in acromegaly, a condition characterized by large hands and feet, arthritis, and distinctive facial features that are often described as "coarse." Excess growth hormone secretion may also lead to increased expansion of the fibrous dysplasia in the bones, most visibly in the skull. Rarely, affected individuals develop Cushing syndrome, an excess of the hormone cortisol produced by the adrenal glands, which are small glands located on top of each kidney. Cushing syndrome causes weight gain in the face and upper body, slowed growth in children, fragile skin, fatigue, and other health problems. In people with McCune-Albright syndrome, Cushing syndrome occurs only before age 2.<br /><br />Problems in other organs and systems, such as noncancerous (benign) gastrointestinal growths called polyps and other abnormalities, can also occur in McCune-Albright syndrome.  <a target="_blank" href="https://medlineplus.gov/genetics/condition/mccune-albright-syndrome">https://medlineplus.gov/genetics/condition/mccune-albright-syndrome</a></div></div>
</div>
<div class="portlet mgSection" id="ID_102">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_features">Clinical features</h1><a sid="102" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
<div class="divPopper rprt" id="clin_57489"><div><strong>Bone pain</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>57489</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.">C0151825</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
<div class="spaceAbove">An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to bone.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/57489">Feature record</a> | <a href="/medgen?term=%22Bone%20pain%22%5BClinical%20Features%5D%20OR%2057489%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_45933"><div><strong>Pituitary adenoma</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>45933</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.">C0032000</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div></div>
<div class="spaceAbove">A benign epithelial tumor derived from intrinsic cells of the adenohypophysis (anterior pituitary).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/45933">Feature record</a> | <a href="/medgen?term=%22Pituitary%20adenoma%22%5BClinical%20Features%5D%20OR%2045933%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_1789172"><div><strong>Acral overgrowth</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1789172</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.">C1735881</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Excessive growth of hands and feet (predominantly due to soft tissue swelling). Typical manifestations include shoe size increase, foot enlargement, glove tightness, and hand enlargement.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1789172">Feature record</a> | <a href="/medgen?term=%22Acral%20overgrowth%22%5BClinical%20Features%5D%20OR%201789172%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_219797"><div><strong>Intestinal polyposis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>219797</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.">C1257915</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">The presence of multiple polyps in the intestine.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/219797">Feature record</a> | <a href="/medgen?term=%22Intestinal%20polyposis%22%5BClinical%20Features%5D%20OR%20219797%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_1373306"><div><strong>Pancreatic intraductal papillary-mucinous neoplasm</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1373306</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.">C4511687</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div></div>
<div class="spaceAbove">Intraductal papillary mucinous neoplasm (IPMN) is an exocrine neoplasm of the pancreas consisting of epithelial cells growing within the pancreatic ducts (main pancreatic duct or its major branches) and producing mucin. IPMN is a mucin-producing pancreatic cystic tumor. IPMN contains epithelial cells that can create papillary projections.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1373306">Feature record</a> | <a href="/medgen?term=%22Pancreatic%20intraductal%20papillary-mucinous%20neoplasm%22%5BClinical%20Features%5D%20OR%201373306%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_235586"><div><strong>Hearing impairment</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>235586</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.">C1384666</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">A decreased magnitude of the sensory perception of sound.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/235586">Feature record</a> | <a href="/medgen?term=%22Hearing%20impairment%22%5BClinical%20Features%5D%20OR%20235586%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_1702649"><div><strong>Increased circulating prolactin concentration</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1702649</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.">C5200994</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">The presence of abnormally increased levels of prolactin in the blood. Prolactin is a peptide hormone produced by the anterior pituitary gland that plays a role in breast development and lactation during pregnancy.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1702649">Feature record</a> | <a href="/medgen?term=%22Increased%20circulating%20prolactin%20concentration%22%5BClinical%20Features%5D%20OR%201702649%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_5180"><div><strong>Polyostotic fibrous dysplasia of bone</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>5180</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.">C0016065</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div></div>
<div class="spaceAbove">Fibrous dysplasia of the bones were lesions are localized in many bones throughout of the body. Polyostotic fibrous dysplasia is a cardinal feature of McCune-Albright syndrome.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/5180">Feature record</a> | <a href="/medgen?term=%22Polyostotic%20fibrous%20dysplasia%20of%20bone%22%5BClinical%20Features%5D%20OR%205180%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_42095"><div><strong>Pathologic fracture</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>42095</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.">C0016663</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div></div>
<div class="spaceAbove">A pathologic fracture occurs when a bone breaks in an area that is weakened secondarily to another disease process such as tumor, infection, and certain inherited bone disorders. A pathologic fracture can occur without a degree of trauma required to cause fracture in healthy bone.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/42095">Feature record</a> | <a href="/medgen?term=%22Pathologic%20fracture%22%5BClinical%20Features%5D%20OR%2042095%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_358122"><div><strong>Craniofacial hyperostosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>358122</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.">C1868085</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Excessive growth of the craniofacial bones.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/358122">Feature record</a> | <a href="/medgen?term=%22Craniofacial%20hyperostosis%22%5BClinical%20Features%5D%20OR%20358122%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_1863788"><div><strong>Sclerotic ilium</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1863788</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.">C5937582</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">An elevation in bone density in the ilium. Sclerosis is normally detected on a radiograph as an area of increased opacity.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1863788">Feature record</a> | <a href="/medgen?term=%22Sclerotic%20ilium%22%5BClinical%20Features%5D%20OR%201863788%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_266298"><div><strong>Facial asymmetry</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>266298</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.">C1306710</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">An abnormal difference between the left and right sides of the face.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/266298">Feature record</a> | <a href="/medgen?term=%22Facial%20asymmetry%22%5BClinical%20Features%5D%20OR%20266298%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_870720"><div><strong>Large cafe-au-lait macules with irregular margins</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>870720</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.">C4025174</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Large hypermelanotic macules with jagged borders.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/870720">Feature record</a> | <a href="/medgen?term=%22Large%20cafe-au-lait%20macules%20with%20irregular%20margins%22%5BClinical%20Features%5D%20OR%20870720%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_6967"><div><strong>Hyperparathyroidism</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>6967</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.">C0020502</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Excessive production of parathyroid hormone (PTH) by the parathyroid glands.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/6967">Feature record</a> | <a href="/medgen?term=%22Hyperparathyroidism%22%5BClinical%20Features%5D%20OR%206967%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_6972"><div><strong>Hyperthyroidism</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>6972</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.">C0020550</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">An abnormality of thyroid physiology characterized by excessive secretion of the thyroid hormones thyroxine (i.e., T4) and/or 3,3',5-triiodo-L-thyronine zwitterion (i.e., triiodothyronine or T3).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/6972">Feature record</a> | <a href="/medgen?term=%22Hyperthyroidism%22%5BClinical%20Features%5D%20OR%206972%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_18752"><div><strong>Precocious puberty</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>18752</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.">C0034013</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">The onset of secondary sexual characteristics before a normal age. Although it is difficult to define normal age ranges because of the marked variation with which puberty begins in normal children, precocious puberty can be defined as the onset of puberty before the age of 8 years in girls or 9 years in boys.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/18752">Feature record</a> | <a href="/medgen?term=%22Precocious%20puberty%22%5BClinical%20Features%5D%20OR%2018752%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_66732"><div><strong>Elevated circulating growth hormone concentration</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>66732</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.">C0235986</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Acromegaly is a condition resulting from overproduction of growth hormone by the pituitary gland in persons with closed epiphyses, and consists chiefly in the enlargement of the distal parts of the body. The circumference of the skull increases, the nose becomes broad, the tongue becomes enlarged, the facial features become coarsened, the mandible grows excessively, and the teeth become separated. The fingers and toes grow chiefly in thickness.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/66732">Feature record</a> | <a href="/medgen?term=%22Elevated%20circulating%20growth%20hormone%20concentration%22%5BClinical%20Features%5D%20OR%2066732%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_808216"><div><strong>Abnormal circulating aldosterone concentration</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>808216</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.">C0857898</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove nowrap">See: <a href="/medgen/808216">Feature record</a> | <a href="/medgen?term=%22Abnormal%20circulating%20aldosterone%20concentration%22%5BClinical%20Features%5D%20OR%20808216%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_866691"><div><strong>Abnormal circulating renin concentration</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>866691</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.">C4021038</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">A deviation from the normal concentration of renin in the blood, a central hormone in the control of blood pressure and various other physiological functions.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/866691">Feature record</a> | <a href="/medgen?term=%22Abnormal%20circulating%20renin%20concentration%22%5BClinical%20Features%5D%20OR%20866691%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_871175"><div><strong>Increased circulating cortisol level</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>871175</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.">C4025651</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Overproduction of the hormone of cortisol by the adrenal cortex, resulting in a characteristic combination of clinical symptoms termed Cushing syndrome, with truncal obesity, a round, full face, striae atrophicae and acne, muscle weakness, and other features.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/871175">Feature record</a> | <a href="/medgen?term=%22Increased%20circulating%20cortisol%20level%22%5BClinical%20Features%5D%20OR%20871175%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_99138"><div><strong>Blindness</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>99138</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.">C0456909</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Blindness is the condition of lacking visual perception defined as a profound reduction in visual perception. On the 6m visual acuity scale, blindness is defined as less than 3/60. On the 20ft visual acuity scale, blindness is defined as less than 20/400. On the decimal visual acuity scale, blindness is defined as less than 0.05. Blindness is typically characterized by a visual field of no greater than 10 degrees in radius around central fixation.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/99138">Feature record</a> | <a href="/medgen?term=%22Blindness%22%5BClinical%20Features%5D%20OR%2099138%5Buid%5D">Search on this feature</a></div></div><div class="TreeLite" data-jigconfig="closed: 1"><div class="concept-def"><a class="small" href="#" onclick="jQuery(&quot;.TreeLite&quot;,&quot;#ID_102&quot;).TreeLite().openAll(); return false;">Show all</a><a class="small" href="#" onclick="jQuery(&quot;.TreeLite&quot;,&quot;#ID_102&quot;).TreeLite().closeAll(); return false;">Hide all</a></div><ul><li><span class="TLline">Abnormality of head or neck</span><ul><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_266298" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Facial asymmetry</a></span></li></ul></li><li><span class="TLline">Abnormality of the digestive system</span><ul><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_219797" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Intestinal polyposis</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1373306" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pancreatic intraductal papillary-mucinous neoplasm</a></span></li></ul></li><li><span class="TLline">Abnormality of the endocrine system</span><ul><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_808216" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Abnormal circulating aldosterone concentration</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_866691" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Abnormal circulating renin concentration</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_66732" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Elevated circulating growth hormone concentration</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_6967" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hyperparathyroidism</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_6972" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hyperthyroidism</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_871175" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Increased circulating cortisol level</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_18752" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Precocious puberty</a></span></li></ul></li><li><span class="TLline">Abnormality of the eye</span><ul><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_99138" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Blindness</a></span></li></ul></li><li><span class="TLline">Abnormality of the integument</span><ul><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_870720" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Large cafe-au-lait macules with irregular margins</a></span></li></ul></li><li><span class="TLline">Abnormality of the musculoskeletal system</span><ul><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_358122" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Craniofacial hyperostosis</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_42095" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pathologic fracture</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_5180" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Polyostotic fibrous dysplasia of bone</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1863788" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Sclerotic ilium</a></span></li></ul></li><li><span class="TLline">Abnormality of the nervous system</span><ul><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1702649" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Increased circulating prolactin concentration</a></span></li></ul></li><li><span class="TLline">Constitutional symptom</span><ul><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_57489" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Bone pain</a></span></li></ul></li><li><span class="TLline">Ear malformation</span><ul><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_235586" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hearing impairment</a></span></li></ul></li><li><span class="TLline">Growth abnormality</span><ul><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1789172" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Acral overgrowth</a></span></li></ul></li><li><span class="TLline">Neoplasm</span><ul><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_45933" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pituitary adenoma</a></span></li></ul></li></ul></div></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><li><a href="#tabORDO">Orphanet</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test,  </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test,  </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM,  </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>,  </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar  </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0242292[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=69164">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=69164" target="_blank" href="/omim/174800">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK274564/" ref="ncbi_uid=69164">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&amp;from_uid=69164" ref="ncbi_uid=69164">V</a></span></span><span class="TLline">McCune-Albright syndrome</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/1842530" ref="tree=MeSH" title="MedGen record for Disease with Cushing syndrome as a major feature">Disease with Cushing syndrome as a major feature</a></span><ul><li><span class="matched_ds">McCune-Albright syndrome</span></li></ul></li></ul></div></div><div id="tabORDO">Follow <a target="_blank" href="http://www.orpha.net/consor/cgi-bin/Disease_Classif.php?lng=EN&amp;data_id=156&amp;PatId=279&amp;search=Disease_Classif_Simple&amp;new=1" class="ital bold">this link</a> to review classifications for <span class="ital">McCune-Albright syndrome</span> in Orphanet.</div></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/31865341">The Clinical Spectrum of McCune-Albright Syndrome and Its Management.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Spencer T,
Pan KS,
Collins MT,
Boyce AM</span><br />
<span class="medgenPMjournal">Horm Res Paediatr</span>
2019;92(6):347-356.
Epub 2019 Dec 19
doi: 10.1159/000504802.
<span class="bold">PMID: </span><a href="/pubmed/31865341" target="_blank">31865341</a><a href="/pmc/articles/PMC7302983" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/31196103">Best practice management guidelines for fibrous dysplasia/McCune-Albright syndrome: a consensus statement from the FD/MAS international consortium.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Javaid MK,
Boyce A,
Appelman-Dijkstra N,
Ong J,
Defabianis P,
Offiah A,
Arundel P,
Shaw N,
Pos VD,
Underhil A,
Portero D,
Heral L,
Heegaard AM,
Masi L,
Monsell F,
Stanton R,
Dijkstra PDS,
Brandi ML,
Chapurlat R,
Hamdy NAT,
Collins MT</span><br />
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
2019 Jun 13;14(1):139.
doi: 10.1186/s13023-019-1102-9.
<span class="bold">PMID: </span><a href="/pubmed/31196103" target="_blank">31196103</a><a href="/pmc/articles/PMC6567644" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/19874777">Ketoconazole treatment for Cushing syndrome in McCune-Albright syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Vong CH,
Forest M,
Nicolino M</span><br />
<span class="medgenPMjournal">J Pediatr</span>
2009 Mar;154(3):467-8; author reply 468-9.
doi: 10.1016/j.jpeds.2008.12.003.
<span class="bold">PMID: </span><a href="/pubmed/19874777" target="_blank">19874777</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22mccune-albright%20syndrome%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 (45)</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/33616817">Denosumab Treatment for Giant Cell Tumors, Aneurysmal Bone Cysts, and Fibrous Dysplasia-Risks and Benefits.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Pan KS,
Boyce AM</span><br />
<span class="medgenPMjournal">Curr Osteoporos Rep</span>
2021 Apr;19(2):141-150.
Epub 2021 Feb 22
doi: 10.1007/s11914-021-00657-z.
<span class="bold">PMID: </span><a href="/pubmed/33616817" target="_blank">33616817</a><a href="/pmc/articles/PMC9533232" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/31196103">Best practice management guidelines for fibrous dysplasia/McCune-Albright syndrome: a consensus statement from the FD/MAS international consortium.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Javaid MK,
Boyce A,
Appelman-Dijkstra N,
Ong J,
Defabianis P,
Offiah A,
Arundel P,
Shaw N,
Pos VD,
Underhil A,
Portero D,
Heral L,
Heegaard AM,
Masi L,
Monsell F,
Stanton R,
Dijkstra PDS,
Brandi ML,
Chapurlat R,
Hamdy NAT,
Collins MT</span><br />
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
2019 Jun 13;14(1):139.
doi: 10.1186/s13023-019-1102-9.
<span class="bold">PMID: </span><a href="/pubmed/31196103" target="_blank">31196103</a><a href="/pmc/articles/PMC6567644" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/26614954">Benign Fibro-Osseous Lesions of the Jaws.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Abramovitch K,
Rice DD</span><br />
<span class="medgenPMjournal">Dent Clin North Am</span>
2016 Jan;60(1):167-93.
Epub 2015 Oct 21
doi: 10.1016/j.cden.2015.08.010.
<span class="bold">PMID: </span><a href="/pubmed/26614954" target="_blank">26614954</a></div>
<div class="nl"><a target="_blank" href="/pubmed/18489744">McCune-Albright syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Dumitrescu CE,
Collins MT</span><br />
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
2008 May 19;3:12.
doi: 10.1186/1750-1172-3-12.
<span class="bold">PMID: </span><a href="/pubmed/18489744" target="_blank">18489744</a><a href="/pmc/articles/PMC2459161" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/3773215">McCune-Albright syndrome. Long-term follow-up.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Lee PA,
Van Dop C,
Migeon CJ</span><br />
<span class="medgenPMjournal">JAMA</span>
1986 Dec 5;256(21):2980-4.
<span class="bold">PMID: </span><a href="/pubmed/3773215" target="_blank">3773215</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22McCune-Albright%20syndrome%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 (180)</a></div><h3 class="subhead">Diagnosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/37074536">Precocious Puberty.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Banerjee S,
Bajpai A</span><br />
<span class="medgenPMjournal">Indian J Pediatr</span>
2023 Jun;90(6):582-589.
Epub 2023 Apr 19
doi: 10.1007/s12098-023-04554-4.
<span class="bold">PMID: </span><a href="/pubmed/37074536" target="_blank">37074536</a></div>
<div class="nl"><a target="_blank" href="/pubmed/36849642">Craniofacial Fibrous Dysplasia: Clinical and Therapeutic Implications.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Szymczuk V,
Taylor J,
Boyce AM</span><br />
<span class="medgenPMjournal">Curr Osteoporos Rep</span>
2023 Apr;21(2):147-153.
Epub 2023 Feb 28
doi: 10.1007/s11914-023-00779-6.
<span class="bold">PMID: </span><a href="/pubmed/36849642" target="_blank">36849642</a><a href="/pmc/articles/PMC11087144" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/31865341">The Clinical Spectrum of McCune-Albright Syndrome and Its Management.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Spencer T,
Pan KS,
Collins MT,
Boyce AM</span><br />
<span class="medgenPMjournal">Horm Res Paediatr</span>
2019;92(6):347-356.
Epub 2019 Dec 19
doi: 10.1159/000504802.
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<div class="nl"><a target="_blank" href="/pubmed/31196103">Best practice management guidelines for fibrous dysplasia/McCune-Albright syndrome: a consensus statement from the FD/MAS international consortium.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Javaid MK,
Boyce A,
Appelman-Dijkstra N,
Ong J,
Defabianis P,
Offiah A,
Arundel P,
Shaw N,
Pos VD,
Underhil A,
Portero D,
Heral L,
Heegaard AM,
Masi L,
Monsell F,
Stanton R,
Dijkstra PDS,
Brandi ML,
Chapurlat R,
Hamdy NAT,
Collins MT</span><br />
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
2019 Jun 13;14(1):139.
doi: 10.1186/s13023-019-1102-9.
<span class="bold">PMID: </span><a href="/pubmed/31196103" target="_blank">31196103</a><a href="/pmc/articles/PMC6567644" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/17181499">McCune-Albright syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Hamadani M,
Chaudhary L</span><br />
<span class="medgenPMjournal">Med J Aust</span>
2006 Dec 4-18;185(11-12):597.
doi: 10.5694/j.1326-5377.2006.tb00722.x.
<span class="bold">PMID: </span><a href="/pubmed/17181499" target="_blank">17181499</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22McCune-Albright%20syndrome%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 (351)</a></div><h3 class="subhead">Therapy</h3>
<div class="nl"><a target="_blank" href="/pubmed/37074536">Precocious Puberty.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Banerjee S,
Bajpai A</span><br />
<span class="medgenPMjournal">Indian J Pediatr</span>
2023 Jun;90(6):582-589.
Epub 2023 Apr 19
doi: 10.1007/s12098-023-04554-4.
<span class="bold">PMID: </span><a href="/pubmed/37074536" target="_blank">37074536</a></div>
<div class="nl"><a target="_blank" href="/pubmed/33616817">Denosumab Treatment for Giant Cell Tumors, Aneurysmal Bone Cysts, and Fibrous Dysplasia-Risks and Benefits.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Pan KS,
Boyce AM</span><br />
<span class="medgenPMjournal">Curr Osteoporos Rep</span>
2021 Apr;19(2):141-150.
Epub 2021 Feb 22
doi: 10.1007/s11914-021-00657-z.
<span class="bold">PMID: </span><a href="/pubmed/33616817" target="_blank">33616817</a><a href="/pmc/articles/PMC9533232" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/27765282">Fibrous dysplasia. Clinical review and therapeutic management.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Florez H,
Peris P,
Guañabens N</span><br />
<span class="medgenPMjournal">Med Clin (Barc)</span>
2016 Dec 16;147(12):547-553.
Epub 2016 Oct 17
doi: 10.1016/j.medcli.2016.07.030.
<span class="bold">PMID: </span><a href="/pubmed/27765282" target="_blank">27765282</a></div>
<div class="nl"><a target="_blank" href="/pubmed/9174745">McCune-Albright syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Feuillan PP</span><br />
<span class="medgenPMjournal">Curr Ther Endocrinol Metab</span>
1997;6:235-9.
<span class="bold">PMID: </span><a href="/pubmed/9174745" target="_blank">9174745</a></div>
<div class="nl"><a target="_blank" href="/pubmed/7704715">McCune-Albright syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Feuillan PP</span><br />
<span class="medgenPMjournal">Curr Ther Endocrinol Metab</span>
1994;5:205-9.
<span class="bold">PMID: </span><a href="/pubmed/7704715" target="_blank">7704715</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22McCune-Albright%20syndrome%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 (175)</a></div><h3 class="subhead">Prognosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/31865341">The Clinical Spectrum of McCune-Albright Syndrome and Its Management.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Spencer T,
Pan KS,
Collins MT,
Boyce AM</span><br />
<span class="medgenPMjournal">Horm Res Paediatr</span>
2019;92(6):347-356.
Epub 2019 Dec 19
doi: 10.1159/000504802.
<span class="bold">PMID: </span><a href="/pubmed/31865341" target="_blank">31865341</a><a href="/pmc/articles/PMC7302983" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/28449700">Determinants of impaired quality of life in patients with fibrous dysplasia.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Majoor BCJ,
Andela CD,
Bruggemann J,
van de Sande MAJ,
Kaptein AA,
Hamdy NAT,
Dijkstra PDS,
Appelman-Dijkstra NM</span><br />
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
2017 Apr 27;12(1):80.
doi: 10.1186/s13023-017-0629-x.
<span class="bold">PMID: </span><a href="/pubmed/28449700" target="_blank">28449700</a><a href="/pmc/articles/PMC5408426" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/26209174">McCune-Albright Syndrome: An Overview of Clinical Features.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Brillante B,
Guthrie L,
Van Ryzin C</span><br />
<span class="medgenPMjournal">J Pediatr Nurs</span>
2015 Sep-Oct;30(5):815-7.
Epub 2015 Jul 21
doi: 10.1016/j.pedn.2015.06.009.
<span class="bold">PMID: </span><a href="/pubmed/26209174" target="_blank">26209174</a></div>
<div class="nl"><a target="_blank" href="/pubmed/8734448">Gonadotrophin receptors.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Clayton RN</span><br />
<span class="medgenPMjournal">Baillieres Clin Endocrinol Metab</span>
1996 Jan;10(1):1-8.
doi: 10.1016/s0950-351x(96)80250-3.
<span class="bold">PMID: </span><a href="/pubmed/8734448" target="_blank">8734448</a></div>
<div class="nl"><a target="_blank" href="/pubmed/3773215">McCune-Albright syndrome. Long-term follow-up.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Lee PA,
Van Dop C,
Migeon CJ</span><br />
<span class="medgenPMjournal">JAMA</span>
1986 Dec 5;256(21):2980-4.
<span class="bold">PMID: </span><a href="/pubmed/3773215" target="_blank">3773215</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22McCune-Albright%20syndrome%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 (140)</a></div><h3 class="subhead">Clinical prediction guides</h3>
<div class="nl"><a target="_blank" href="/pubmed/33512531">Genotype-Phenotype Correlation in Fibrous Dysplasia/McCune-Albright Syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Zhadina M,
Roszko KL,
Geels RES,
de Castro LF,
Collins MT,
Boyce AM</span><br />
<span class="medgenPMjournal">J Clin Endocrinol Metab</span>
2021 Apr 23;106(5):1482-1490.
doi: 10.1210/clinem/dgab053.
<span class="bold">PMID: </span><a href="/pubmed/33512531" target="_blank">33512531</a><a href="/pmc/articles/PMC8522305" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/24517150">Acromegaly and McCune-Albright syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Salenave S,
Boyce AM,
Collins MT,
Chanson P</span><br />
<span class="medgenPMjournal">J Clin Endocrinol Metab</span>
2014 Jun;99(6):1955-69.
Epub 2014 Feb 11
doi: 10.1210/jc.2013-3826.
<span class="bold">PMID: </span><a href="/pubmed/24517150" target="_blank">24517150</a><a href="/pmc/articles/PMC4037730" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/23858622">Fibrous dysplasia.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Lietman SA,
Levine MA</span><br />
<span class="medgenPMjournal">Pediatr Endocrinol Rev</span>
2013 Jun;10 Suppl 2:389-96.
<span class="bold">PMID: </span><a href="/pubmed/23858622" target="_blank">23858622</a></div>
<div class="nl"><a target="_blank" href="/pubmed/12199345">McCune-Albright syndrome: molecular genetics.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Lumbroso S,
Paris F,
Sultan C</span><br />
<span class="medgenPMjournal">J Pediatr Endocrinol Metab</span>
2002;15 Suppl 3:875-82.
<span class="bold">PMID: </span><a href="/pubmed/12199345" target="_blank">12199345</a></div>
<div class="nl"><a target="_blank" href="/pubmed/8734448">Gonadotrophin receptors.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Clayton RN</span><br />
<span class="medgenPMjournal">Baillieres Clin Endocrinol Metab</span>
1996 Jan;10(1):1-8.
doi: 10.1016/s0950-351x(96)80250-3.
<span class="bold">PMID: </span><a href="/pubmed/8734448" target="_blank">8734448</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22McCune-Albright%20syndrome%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 (150)</a></div></div>
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<div class="nl"><a target="_blank" href="/pubmed/38515135">Recent research advances in pain mechanisms in McCune-Albright syndrome thinking about the pain mechanism of FD/MAS.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Wang Y,
Jiang T</span><br />
<span class="medgenPMjournal">J Orthop Surg Res</span>
2024 Mar 21;19(1):196.
doi: 10.1186/s13018-024-04687-y.
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<div class="nl"><a target="_blank" href="/pubmed/37632645">Efficacy of antiresorptive agents in fibrous dysplasia and McCune Albright syndrome, a systematic review and meta-analysis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Bertin H,
Moussa MS,
Komarova S</span><br />
<span class="medgenPMjournal">Rev Endocr Metab Disord</span>
2023 Dec;24(6):1103-1119.
Epub 2023 Aug 26
doi: 10.1007/s11154-023-09832-2.
<span class="bold">PMID: </span><a href="/pubmed/37632645" target="_blank">37632645</a></div>
<div class="nl"><a target="_blank" href="/pubmed/36877453">Autonomous growth hormone secretion due to McCune Albright syndrome in paediatric age group: an ominous triad.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Jayant SS,
Walia R,
Gupta R,
Pal R,
Chaudhary S,
Agrawal K,
Rastogi A,
Bhattacharya A,
Dutta P,
Bhadada SK,
Bhansali A</span><br />
<span class="medgenPMjournal">Endocrine</span>
2023 Jul;81(1):149-159.
Epub 2023 Mar 6
doi: 10.1007/s12020-023-03333-7.
<span class="bold">PMID: </span><a href="/pubmed/36877453" target="_blank">36877453</a></div>
<div class="nl"><a target="_blank" href="/pubmed/27922965">Prevalence of Different Forms and Involved Bones of Craniofacial Fibrous Dysplasia.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Yang L,
Wu H,
Lu J,
Teng L</span><br />
<span class="medgenPMjournal">J Craniofac Surg</span>
2017 Jan;28(1):21-25.
doi: 10.1097/SCS.0000000000002830.
<span class="bold">PMID: </span><a href="/pubmed/27922965" target="_blank">27922965</a></div>
<div class="nl"><a target="_blank" href="/pubmed/27007613">Testicular microlithiasis and testicular cancer: review of the literature.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Pedersen MR,
Rafaelsen SR,
Møller H,
Vedsted P,
Osther PJ</span><br />
<span class="medgenPMjournal">Int Urol Nephrol</span>
2016 Jul;48(7):1079-86.
Epub 2016 Mar 23
doi: 10.1007/s11255-016-1267-2.
<span class="bold">PMID: </span><a href="/pubmed/27007613" target="_blank">27007613</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22McCune-Albright%20syndrome%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 (8)</a></div></div>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C0242292%5bDISCUI%5d&amp;filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (33)</a></li>
<li><a href="/gtr/tests?term=C0242292%5bDISCUI%5d&amp;filter=method%3A2%5F15" target="_blank">Methylation analysis (1)</a></li>
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<li><a href="/gtr/tests?term=C0242292%5bDISCUI%5d&amp;filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (39)</a></li>
<li><a href="/gtr/tests?term=C0242292%5bDISCUI%5d&amp;filter=method%3A2%5F19" target="_blank">Targeted variant analysis (5)</a></li>
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<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22mccune-albright%20syndrome%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">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li><li><a target="_blank" href="/books/?term=((%22clinical%20guidelines%22%5BResource%20Type%5D)%20OR%20%22practice%20guideline%22%5BPublication%20Type%5D)%20AND%20(%22McCune-Albright%20syndrome%22)">Bookshelf</a><div class="help-popup">See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul></div>
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<div class="portlet_content ln"><ul><li><a href="http://www.omim.org/search?index=entry&amp;start=1&amp;limit=10&amp;sort=score%20desc&amp;field=number&amp;search=139320" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=2778[geneid]" target="_blank">View GNAS variations in ClinVar</a></li><li><a href="/nuccore/281182534" target="_blank">RefSeqGene</a></li><li><a href="https://catalog.coriell.org/Search?q=174800" target="_blank">Coriell Institute for Medical Research</a></li></ul></div>
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