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<meta name="keywords" content="C0029464, disease or syndrome, increased bone density, increased bone mineral density, osteoscleroses, osteosclerosis, osteosclerosis of bones, 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="An abnormal increase of bone mineral density, that is, of the amount of matter per cubic centimeter of bones which is often referred to as osteosclerosis. Osteosclerosis can be detected on radiological examination as an increased whiteness (density) of affected bones." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
UID=10502
ConceptID=C0029464
-->
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Increased bone mineral density</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>10502</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.">C0029464</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
<td>Osteosclerosis</td></tr>
<tr><td><span class="bold">SNOMED CT: </span></td>
<td>Osteosclerosis (49347007)</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:0011001">HP:0011001</a></td></tr>
<tr><td>Monarch Initiative:</td>
<td><a href="https://monarchinitiative.org/disease/MONDO:0002933" target="_blank">MONDO:0002933</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">An abnormal increase of bone mineral density, that is, of the amount of matter per cubic centimeter of bones which is often referred to as osteosclerosis. Osteosclerosis can be detected on radiological examination as an increased whiteness (density) of affected bones. [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 Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0029464[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=10502">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&amp;from_uid=10502" ref="ncbi_uid=10502">V</a></span></span><span class="TLline">Increased bone mineral density</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/1763488" ref="tree=MeSH" title="MedGen record for Abnormality of the musculoskeletal system">Abnormality of the musculoskeletal system</a></span><ul><li><span class="TLline"><a href="/medgen/867418" ref="tree=MeSH" title="MedGen record for Abnormality of the skeletal system">Abnormality of the skeletal system</a></span><ul><li><span class="TLline"><a href="/medgen/868760" ref="tree=MeSH" title="MedGen record for Abnormal skeletal morphology">Abnormal skeletal morphology</a></span><ul><li><span class="TLline"><a href="/medgen/871157" ref="tree=MeSH" title="MedGen record for Abnormal bone structure">Abnormal bone structure</a></span><ul><li><span class="TLline"><a href="/medgen/868756" ref="tree=MeSH" title="MedGen record for Abnormal bone ossification">Abnormal bone ossification</a></span><ul><li><span class="TLline"><a href="/medgen/867294" ref="tree=MeSH" title="MedGen record for Abnormality of bone mineral density">Abnormality of bone mineral density</a></span><ul><li><span class="matched_ds">Increased bone mineral density</span><ul><li><span class="TLline"><a href="/medgen/870941" ref="tree=MeSH" title="MedGen record for Bone-in-a-bone appearance of carpal bones">Bone-in-a-bone appearance of carpal bones</a></span></li><li><span class="TLline"><a href="/medgen/767583" ref="tree=MeSH" title="MedGen record for Clavicular sclerosis">Clavicular sclerosis</a></span></li><li><span class="TLline"><a href="/medgen/870710" ref="tree=MeSH" title="MedGen record for Cortical sclerosis">Cortical sclerosis</a></span></li><li><span class="TLline"><a href="/medgen/1864368" ref="tree=MeSH" title="MedGen record for Femoral osteosclerosis">Femoral osteosclerosis</a></span></li><li><span class="TLline"><a href="/medgen/375162" ref="tree=MeSH" title="MedGen record for Generalized osteosclerosis">Generalized osteosclerosis</a></span></li><li><span class="TLline"><a href="/medgen/870697" ref="tree=MeSH" title="MedGen record for Increased bone density with cystic changes">Increased bone density with cystic changes</a></span></li><li><span class="TLline"><a href="/medgen/5694" ref="tree=MeSH" title="MedGen record for Increased skull ossification">Increased skull ossification</a></span><ul><li><span class="TLline"><a href="/medgen/343213" ref="tree=MeSH" title="MedGen record for Dense calvaria">Dense calvaria</a></span></li><li><span class="TLline"><a href="/medgen/9367" ref="tree=MeSH" title="MedGen record for Hyperostosis interna frontalis">Hyperostosis interna frontalis</a></span></li><li><span class="TLline"><a href="/medgen/866532" ref="tree=MeSH" title="MedGen record for Increased spinal bone density">Increased spinal bone density</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/870114" ref="tree=MeSH" title="MedGen record for Ivory epiphyses of the metacarpals">Ivory epiphyses of the metacarpals</a></span></li><li><span class="TLline"><a href="/medgen/326730" ref="tree=MeSH" title="MedGen record for Metacarpal diaphyseal endosteal sclerosis">Metacarpal diaphyseal endosteal sclerosis</a></span></li><li><span class="TLline"><a href="/medgen/18223" ref="tree=MeSH" title="MedGen record for Osteopetrosis">Osteopetrosis</a></span><ul><li><span class="TLline"><a href="/medgen/930809" ref="tree=MeSH" title="MedGen record for 12q14 microdeletion syndrome">12q14 microdeletion syndrome</a></span></li><li><span class="TLline"><a href="/medgen/929406" ref="tree=MeSH" title="MedGen record for Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome">Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1378401" ref="tree=MeSH" title="MedGen record for Autosomal dominant osteopetrosis">Autosomal dominant osteopetrosis</a></span><ul><li><span class="TLline"><a href="/medgen/335932" ref="tree=MeSH" title="MedGen record for Autosomal dominant osteopetrosis 1">Autosomal dominant osteopetrosis 1</a></span></li><li><span class="TLline"><a href="/medgen/465707" ref="tree=MeSH" title="MedGen record for Autosomal dominant osteopetrosis 2">Autosomal dominant osteopetrosis 2</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1385510" ref="tree=MeSH" title="MedGen record for Autosomal recessive osteopetrosis">Autosomal recessive osteopetrosis</a></span><ul><li><span class="TLline"><a href="/medgen/376708" ref="tree=MeSH" title="MedGen record for Autosomal recessive osteopetrosis 1">Autosomal recessive osteopetrosis 1</a></span></li><li><span class="TLline"><a href="/medgen/767392" ref="tree=MeSH" title="MedGen record for Autosomal recessive osteopetrosis 8">Autosomal recessive osteopetrosis 8</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/409754" ref="tree=MeSH" title="MedGen record for Autosomal recessive osteopetrosis 6">Autosomal recessive osteopetrosis 6</a></span></li><li><span class="TLline"><a href="/medgen/436770" ref="tree=MeSH" title="MedGen record for Autosomal recessive osteopetrosis 7">Autosomal recessive osteopetrosis 7</a></span></li><li><span class="TLline"><a href="/medgen/98482" ref="tree=MeSH" title="MedGen record for Axial osteosclerosis">Axial osteosclerosis</a></span></li><li><span class="TLline"><a href="/medgen/934592" ref="tree=MeSH" title="MedGen record for Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness">Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness</a></span></li><li><span class="TLline"><a href="/medgen/120545" ref="tree=MeSH" title="MedGen record for Dermatofibrosis lenticularis disseminata">Dermatofibrosis lenticularis disseminata</a></span></li><li><span class="TLline"><a href="/medgen/98150" ref="tree=MeSH" title="MedGen record for Dysosteosclerosis">Dysosteosclerosis</a></span></li><li><span class="TLline"><a href="/medgen/1805057" ref="tree=MeSH" title="MedGen record for Early-onset calcifying leukoencephalopathy-skeletal dysplasia">Early-onset calcifying leukoencephalopathy-skeletal dysplasia</a></span></li><li><span class="TLline"><a href="/medgen/373924" ref="tree=MeSH" title="MedGen record for Infantile osteopetrosis with neuroaxonal dysplasia">Infantile osteopetrosis with neuroaxonal dysplasia</a></span></li><li><span class="TLline"><a href="/medgen/318940" ref="tree=MeSH" title="MedGen record for Isolated osteopoikilosis">Isolated osteopoikilosis</a></span></li><li><span class="TLline"><a href="/medgen/411605" ref="tree=MeSH" title="MedGen record for Leukocyte adhesion deficiency 3">Leukocyte adhesion deficiency 3</a></span></li><li><span class="TLline"><a href="/medgen/460981" ref="tree=MeSH" title="MedGen record for Melorheostosis">Melorheostosis</a></span></li><li><span class="TLline"><a href="/medgen/461045" ref="tree=MeSH" title="MedGen record for Melorheostosis with osteopoikilosis">Melorheostosis with osteopoikilosis</a></span></li><li><span class="TLline"><a href="/medgen/1373678" ref="tree=MeSH" title="MedGen record for Osteoclast-Rich Osteopetrosis">Osteoclast-Rich Osteopetrosis</a></span></li><li><span class="TLline"><a href="/medgen/96590" ref="tree=MeSH" title="MedGen record for Osteopathia striata with cranial sclerosis">Osteopathia striata with cranial sclerosis</a></span></li><li><span class="TLline"><a href="/medgen/91042" ref="tree=MeSH" title="MedGen record for Osteopetrosis with renal tubular acidosis">Osteopetrosis with renal tubular acidosis</a></span></li><li><span class="TLline"><a href="/medgen/767579" ref="tree=MeSH" title="MedGen record for Osteosclerotic metaphyseal dysplasia">Osteosclerotic metaphyseal dysplasia</a></span></li><li><span class="TLline"><a href="/medgen/116061" ref="tree=MeSH" title="MedGen record for Pyknodysostosis">Pyknodysostosis</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/45251" ref="tree=MeSH" title="MedGen record for Osteopoikilosis">Osteopoikilosis</a></span></li><li><span class="TLline"><a href="/medgen/383784" ref="tree=MeSH" title="MedGen record for Patchy osteosclerosis">Patchy osteosclerosis</a></span></li><li><span class="TLline"><a href="/medgen/866585" ref="tree=MeSH" title="MedGen record for Sclerosis of foot bone">Sclerosis of foot bone</a></span><ul><li><span class="TLline"><a href="/medgen/327100" ref="tree=MeSH" title="MedGen record for Metatarsal diaphyseal endosteal sclerosis">Metatarsal diaphyseal endosteal sclerosis</a></span></li><li><span class="TLline"><a href="/medgen/866586" ref="tree=MeSH" title="MedGen record for Sclerosis of toe phalanx">Sclerosis of toe phalanx</a></span><ul><li><span class="TLline"><a href="/medgen/866972" ref="tree=MeSH" title="MedGen record for Patchy sclerosis of toe phalanx">Patchy sclerosis of toe phalanx</a></span></li><li><span class="TLline"><a href="/medgen/866584" ref="tree=MeSH" title="MedGen record for Sclerosis of 2nd toe phalanx">Sclerosis of 2nd toe phalanx</a></span></li><li><span class="TLline"><a href="/medgen/866583" ref="tree=MeSH" title="MedGen record for Sclerosis of 3rd toe phalanx">Sclerosis of 3rd toe phalanx</a></span></li><li><span class="TLline"><a href="/medgen/866582" ref="tree=MeSH" title="MedGen record for Sclerosis of 4th toe phalanx">Sclerosis of 4th toe phalanx</a></span></li><li><span class="TLline"><a href="/medgen/866581" ref="tree=MeSH" title="MedGen record for Sclerosis of 5th toe phalanx">Sclerosis of 5th toe phalanx</a></span></li><li><span class="TLline"><a href="/medgen/866577" ref="tree=MeSH" title="MedGen record for Sclerosis of distal toe phalanx">Sclerosis of distal toe phalanx</a></span></li><li><span class="TLline"><a href="/medgen/866580" ref="tree=MeSH" title="MedGen record for Sclerosis of hallux phalanx">Sclerosis of hallux phalanx</a></span></li><li><span class="TLline"><a href="/medgen/866578" ref="tree=MeSH" title="MedGen record for Sclerosis of middle toe phalanx">Sclerosis of middle toe phalanx</a></span></li><li><span class="TLline"><a href="/medgen/866579" ref="tree=MeSH" title="MedGen record for Sclerosis of proximal toe phalanx">Sclerosis of proximal toe phalanx</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1371353" ref="tree=MeSH" title="MedGen record for Tarsal sclerosis">Tarsal sclerosis</a></span><ul><li><span class="TLline"><a href="/medgen/337101" ref="tree=MeSH" title="MedGen record for Tarsal stippling">Tarsal stippling</a></span></li></ul></li></ul></li><li><span class="TLline"><a href="/medgen/867321" ref="tree=MeSH" title="MedGen record for Sclerosis of hand bone">Sclerosis of hand bone</a></span><ul><li><span class="TLline"><a href="/medgen/870911" ref="tree=MeSH" title="MedGen record for Irregular sclerosis of hand bones">Irregular sclerosis of hand bones</a></span><ul><li><span class="TLline"><a href="/medgen/870908" ref="tree=MeSH" title="MedGen record for Patchy sclerosis of hand bones">Patchy sclerosis of hand bones</a></span></li><li><span class="TLline"><a href="/medgen/870904" ref="tree=MeSH" title="MedGen record for Sclerosis of hand bones with transverse striations">Sclerosis of hand bones with transverse striations</a></span></li><li><span class="TLline"><a href="/medgen/870905" ref="tree=MeSH" title="MedGen record for Sclerotic foci in hand bones">Sclerotic foci in hand bones</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1387787" ref="tree=MeSH" title="MedGen record for Sclerosis of the carpal bones">Sclerosis of the carpal bones</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/377095" ref="tree=MeSH" title="MedGen record for Sclerosis of skull base">Sclerosis of skull base</a></span><ul><li><span class="TLline"><a href="/medgen/331983" ref="tree=MeSH" title="MedGen record for Progressive sclerosis of skull base">Progressive sclerosis of skull base</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/336559" ref="tree=MeSH" title="MedGen record for Sclerotic scapulae">Sclerotic scapulae</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_3486"><div><strong>Cleidocranial dysostosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>3486</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.">C0008928</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Cleidocranial dysplasia (CCD) spectrum disorder is a skeletal dysplasia that represents a clinical continuum ranging from classic CCD (triad of delayed closure of the cranial sutures, hypoplastic or aplastic clavicles, and dental abnormalities), to mild CCD, to isolated dental anomalies without other skeletal features. Individuals with classic CCD spectrum disorder typically have abnormally large, wide-open fontanelles at birth that may remain open throughout life. Clavicular hypoplasia can result in narrow, sloping shoulders that can be opposed at the midline. Moderate short stature may be observed, with most affected individuals being shorter than their unaffected sibs. Dental anomalies may include delayed eruption of secondary dentition, failure to shed the primary teeth, and supernumerary teeth. Individuals with CCD spectrum disorder are at increased risk of developing recurrent sinus infections, recurrent ear infections leading to conductive hearing loss, and upper airway obstruction. Intelligence is typically normal.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/3486">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_4268"><div><strong>Diaphyseal dysplasia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>4268</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.">C0011989</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Camurati-Engelmann disease (CED) is characterized by hyperostosis of the long bones and the skull, proximal muscle weakness, limb pain, a wide-based, waddling gait, and joint contractures. Facial features such as macrocephaly, frontal bossing, enlargement of the mandible, proptosis, and cranial nerve impingement resulting in facial palsy are seen in severely affected individuals later in life.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/4268">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_116061"><div><strong>Pyknodysostosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>116061</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.">C0238402</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Pycnodysostosis is characterized by short-limbed short stature, typical facial appearance (convex nasal ridge and small jaw with obtuse mandibular angle), osteosclerosis with increased bone fragility, acroosteolysis of the distal phalanges, delayed closure of the cranial sutures, and dysplasia of the clavicle. In affected individuals, the facial features become more prominent with age, likely due to progressive acroosteolysis of the facial bones, but can usually be appreciated from early childhood, particularly the small jaw and convex nasal ridge. Additional features include dental and nail anomalies. Intelligence is typically normal with mild psychomotor difficulties reported in some individuals.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/116061">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_78555"><div><strong>Tricho-dento-osseous syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>78555</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.">C0265333</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Trichodentoosseous syndrome (TDO) is an autosomal dominant disorder with complete penetrance characterized by abnormalities involving hair, teeth, and bone (summary by Nguyen et al., 2013).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/78555">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_75658"><div><strong>Primary hyperoxaluria, type I</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>75658</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.">C0268164</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Primary hyperoxaluria type 1 (PH1) is caused by deficiency of the liver peroxisomal enzyme alanine-glyoxylate aminotransferase (AGT), which catalyzes the conversion of glyoxylate to glycine. When AGT activity is reduced or absent, glyoxylate is converted to oxalate, which cannot be metabolized and must be excreted by the kidneys. Insoluble calcium oxalate crystals form due to high urinary oxalate concentration. Urinary crystals aggregate, leading to nephrolithiasis (i.e., calcium oxalate kidney stones) in the renal pelvis / urinary tract; often the crystals deposit in kidney parenchyma (nephrocalcinosis). The age at presentation of PH1 ranges from infancy (age &lt;12 months) in 10% of individuals, childhood/adolescence (age 1-17 years) in 70%, and adulthood (age =18 years) in 20%. The natural history of untreated PH1 is (1) progressive decline in kidney function due to complications of nephrolithiasis (e.g., urinary obstruction, infection) and nephrocalcinosis, and (2) in persons with advanced chronic kidney disease (CKD), high plasma oxalate concentrations result in other organ and tissue damage from calcium oxalate deposition (i.e., "oxalosis"), most commonly in the bones, heart, and retina. In the absence of treatment, progression of oxalosis results in death from kidney failure and/or other organ involvement.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/75658">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_75678"><div><strong>Hyperphosphatasemia with bone disease</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>75678</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.">C0268414</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Paget disease of bone-5 is an autosomal recessive, juvenile-onset form of Paget disease, a disorder of the skeleton resulting from abnormal bone resorption and formation. Clinical manifestations include short stature, progressive long bone deformities, fractures, vertebral collapse, skull enlargement, and hyperostosis with progressive deafness. There is phenotypic variability, with some patients presenting in infancy, while others present later in childhood (summary by Naot et al., 2014).&#13; For discussion of genetic heterogeneity of Paget disease of bone, see 167250.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/75678">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_91009"><div><strong>Flynn-Aird syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>91009</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.">C0343108</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">A rare genetic disease characterized by childhood onset of bilateral progressive sensorineural hearing loss, ocular anomalies (myopia, cataract, retinitis pigmentosa), central and peripheral nervous system features (dementia, epilepsy, ataxia, peripheral neuropathy), ectodermal features (skin atrophy, alopecia, dental caries), and skeletal anomalies (bone cysts, joint stiffness, scoliosis, kyphosis). Laboratory examination may reveal elevated cerebrospinal fluid protein.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/91009">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_98482"><div><strong>Axial osteosclerosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>98482</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.">C0432264</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Osteomesopyknosis is a nonmalignant sclerosing bone dysplasia of the axial skeleton. Osteosclerosis is limited to the axial skeleton, pelvis, and proximal long bones. The condition is often an incidental radiologic finding in a young adult complaining of back pain. Patients have normal height and laboratory examinations are within normal limits (summary by Yao and Camacho, 2014).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/98482">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_98484"><div><strong>Hyperphosphatasemia tarda</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>98484</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.">C0432272</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">SOST-related sclerosing bone dysplasias include SOST-related sclerosteosis and SOST-related endosteal hyperostosis, van Buchem type (van Buchem disease), both disorders of progressive bone overgrowth due to increased bone formation. The major clinical features of SOST-related sclerosteosis are progressive skeletal overgrowth, most pronounced in the skull and mandible, and variable syndactyly, usually of the second (index) and third (middle) fingers. Affected individuals appear normal at birth except for syndactyly. Facial distortion due to frontal bossing and mandibular overgrowth is seen in nearly all individuals and becomes apparent in early childhood with progression into adulthood. Hyperostosis of the skull results in narrowing of the foramina, causing entrapment of the seventh cranial nerve (leading to facial palsy) with other, less common nerve entrapment syndromes including visual loss (2nd cranial nerve), neuralgia or anosmia (5th cranial nerve), and sensorineural hearing loss (8th cranial nerve). In SOST-related sclerosteosis, hyperostosis of the calvarium reduces intracranial volume, increasing the risk for potentially lethal elevation of intracranial pressure. Survival of individuals with SOST-related sclerosteosis into old age is unusual but not unprecedented. The manifestations of van Buchem disease are generally milder than SOST-related sclerosteosis. Stature is typically normal, cranial nerve entrapment of the seventh and eighth cranial nerves are common, and increased intracranial pressure is rare, seen only in severely affected individuals. Individuals with van Buchem disease do not have syndactyly or other digit deformities. Life span appears not to be altered.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/98484">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_331568"><div><strong>Osteosclerosis with ichthyosis and fractures</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>331568</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.">C1833697</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/331568">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_337844"><div><strong>Pyknoachondrogenesis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>337844</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.">C1849523</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Pyknoachondrogenesis is a lethal skeletal osteochondrodysplasia characterized by severe generalized osteosclerosis. The disease is very rare and only five cases (four males and one female) have been reported in the literature so far. Pyknoachondrogenesis may be detected prenatally due to the extreme shortening of the limbs and hydrops fetalis, or is recognized at birth. The main clinical manifestations include a large head, palpebral edema, a flat nose, low-set ears, a short neck, a short and wide trunk, a prominent abdomen, and severe micromelic dwarfism. Etiology remains unknown. Pyknoachondrogenesis has a lethal outcome, either prenatally or during the early neonatal period.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/337844">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_342416"><div><strong>Lethal osteosclerotic bone dysplasia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>342416</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.">C1850106</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Raine syndrome (RNS) is a neonatal osteosclerotic bone dysplasia of early and aggressive onset that usually results in death within the first few weeks of life, although there have been some reports of survival into childhood. Radiographic studies show a generalized increase in the density of all bones and a marked increase in the ossification of the skull. The increased ossification of the basal structures of the skull and facial bones underlies the characteristic facial features, which include narrow prominent forehead, proptosis, depressed nasal bridge, and midface hypoplasia. Periosteal bone formation is also characteristic of this disorder and differentiates it from osteopetrosis and other known lethal and nonlethal osteosclerotic bone dysplasias. The periosteal bone formation typically extends along the diaphysis of long bones adjacent to areas of cellular soft tissue (summary by Simpson et al., 2009). Some patients survive infancy (Simpson et al., 2009; Fradin et al., 2011).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/342416">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_376708"><div><strong>Autosomal recessive osteopetrosis 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>376708</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.">C1850127</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Osteopetrosis (OPT) is a life-threatening disease caused by subnormal osteoclast function, with an incidence of 1 in 250,000 births. The disease usually manifests in the first few months of life with macrocephaly and frontal bossing, resulting in a characteristic facial appearance. Defective bone remodeling of the skull results in choanal stenosis with concomitant respiratory problems and feeding difficulties, which are the first clinical manifestation of disease. The expanding bone encroaches on neural foramina, leading to blindness, deafness, and facial palsy. Complete visual loss invariably occurs in all untreated patients, and hearing loss is estimated to affect 78% of patients with OPT. Tooth eruption defects and severe dental caries are common. Calcium feedback hemostasis is impaired, and children with OPT are at risk of developing hypocalcemia with attendant tetanic seizures and secondary hyperparathyroidism. The most severe complication of OPT, limiting survival, is bone marrow insufficiency. The abnormal expansion of cortical and trabecular bone physically limits the availability of medullary space for hematopoietic activity, leading to life-threatening cytopenia and secondary expansion of extramedullary hematopoiesis at sites such as the liver and spleen (summary by Aker et al., 2012).&#13; Genetic Heterogeneity of Autosomal Recessive Osteopetrosis&#13; Other forms of autosomal recessive infantile malignant osteopetrosis include OPTB4 (611490), which is caused by mutation in the CLCN7 gene (602727) on chromosome 16p13, and OPTB5 (259720), which is caused by mutation in the OSTM1 gene (607649) on chromosome 6q21. A milder, osteoclast-poor form of autosomal recessive osteopetrosis (OPTB2; 259710) is caused by mutation in the TNFSF11 gene (602642) on chromosome 13q14, an intermediate form (OPTB6; 611497) is caused by mutation in the PLEKHM1 gene (611466) on chromosome 17q21, and a severe osteoclast-poor form associated with hypogammaglobulinemia (OPTB7; 612301) is caused by mutation in the TNFRSF11A gene (603499) on chromosome 18q21. Another form of autosomal recessive osteopetrosis (OPTB8; 615085) is caused by mutation in the SNX10 gene (614780) on chromosome 7p15. A form of autosomal recessive osteopetrosis associated with renal tubular acidosis (OPTB3; 259730) is caused by mutation in the CA2 gene (611492) on chromosome 8q21. OPTB9 (620366) is caused by mutation in the SLC4A2 gene (109280) on chromosome 7q36.&#13; Autosomal dominant forms of osteopetrosis are more benign (see OPTA1, 607634).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/376708">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_343282"><div><strong>Metaphyseal modeling abnormality, skin lesions, and spastic paraplegia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>343282</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.">C1855164</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/343282">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_344739"><div><strong>Ghosal hematodiaphyseal dysplasia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>344739</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.">C1856465</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
<div class="spaceAbove">Ghosal hematodiaphyseal dysplasia (GHDD) is an autosomal recessive disorder characterized by increased bone density with predominant diaphyseal involvement and aregenerative corticosteroid-sensitive anemia (summary by Genevieve et al., 2008).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/344739">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_354730"><div><strong>Axial osteomalacia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>354730</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.">C1862372</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/354730">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_355447"><div><strong>Ossification of the posterior longitudinal ligament of the spine</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>355447</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.">C1865343</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Ossification of the posterior longitudinal ligament of the spine (OPLL) is a common degenerative spinal disorder that causes severe neurologic dysfunction in middle-aged and elderly populations. This ectopic ossification results in compression of the spinal cord and nerve root by the ossified ligament. Histologic studies of OPLL suggest that OPLL develops through a process of endochondral ossification (summary by Nakajima et al., 2016).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/355447">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_400801"><div><strong>Desmosterolosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>400801</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.">C1865596</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Desmosterolosis is a rare autosomal recessive disorder characterized by multiple congenital anomalies and elevated levels of the cholesterol precursor desmosterol in plasma, tissue, and cultured cells (summary by Waterham et al., 2001).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/400801">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_409627"><div><strong>Autosomal recessive osteopetrosis 5</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>409627</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.">C1968603</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Autosomal recessive osteopetrosis-5 (OPTB5) is a form of infantile malignant osteopetrosis, characterized by defective osteoclast function resulting in decreased bone resorption and generalized osteosclerosis. Defective resorption causes development of densely sclerotic fragile bones and progressive obliteration of the marrow spaces and cranial foramina. Marrow obliteration is associated with extramedullary hematopoiesis and hepatosplenomegaly, and results in anemia and thrombocytopenia, whereas nerve entrapment accounts for progressive blindness and hearing loss. Other major manifestations include failure to thrive, pathologic fractures, and increased infection rate. Most affected children succumb to severe bone marrow failure and overwhelming infection in the first few years of life (summary by Quarello et al., 2004).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/409627">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_370598"><div><strong>Autosomal recessive osteopetrosis 4</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>370598</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.">C1969106</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">The spectrum of CLCN7-related osteopetrosis includes infantile malignant CLCN7-related autosomal recessive osteopetrosis (ARO), intermediate autosomal osteopetrosis (IAO), and autosomal dominant osteopetrosis type II (ADOII; Albers-Schönberg disease). ARO. Onset is at birth. Findings may include: fractures; reduced growth; sclerosis of the skull base (with or without choanal stenosis or hydrocephalus) resulting in optic nerve compression, facial palsy, and hearing loss; absence of the bone marrow cavity resulting in severe anemia and thrombocytopenia; dental abnormalities, odontomas, and risk for mandibular osteomyelitis; and hypocalcemia with tetanic seizures and secondary hyperparathyroidism. Without treatment maximal life span in ARO is ten years. IAO. Onset is in childhood. Findings may include: fractures after minor trauma, characteristic skeletal radiographic changes found incidentally, mild anemia, and occasional visual impairment secondary to optic nerve compression. Life expectancy in IAO is usually normal. ADOII. Onset is usually late childhood or adolescence. Findings may include: fractures (in any long bone and/or the posterior arch of a vertebra), scoliosis, hip osteoarthritis, and osteomyelitis of the mandible or septic osteitis or osteoarthritis elsewhere. Cranial nerve compression is rare.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/370598">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_460981"><div><strong>Melorheostosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>460981</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.">C3149631</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Melorheostosis (MEL) is characterized by 'flowing' hyperostosis of the cortex of tubular bones. The lesions are usually asymmetric and involve only 1 limb or correspond to a particular sclerotome. They may be accompanied by abnormalities of adjacent soft tissue, including joint contractures, sclerodermatous skin lesions, muscle atrophy, or hemangiomas (review by Hellemans et al., 2004). The designation combines root words meaning 'limb,' 'flow,' and 'bone.'&#13; Melorheostosis may sometimes be a feature of Buschke-Ollendorff syndrome (BOS; 166700), a benign disorder which is caused by mutation in the LEMD3 gene (607844). Although germline or somatic LEMD3 mutations had been postulated to cause isolated melorheostosis (Butkus et al., 1997; Debeer et al., 2003; Happle, 2004; Hellemans et al., 2004), several studies have not been able to prove this (Hellemans et al., 2004; Mumm et al., 2007; Zhang et al., 2009).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/460981">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_766801"><div><strong>Osteogenesis imperfecta type 13</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>766801</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.">C3553887</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Osteogenesis imperfecta (OI) is a connective tissue disorder characterized by bone fragility and low bone mass. Due to considerable phenotypic variability, Sillence et al. (1979) developed a classification of OI subtypes based on clinical features and disease severity: OI type I, with blue sclerae (166200); perinatal lethal OI type II, also known as congenital OI (166210); OI type III, a progressively deforming form with normal sclerae (259420); and OI type IV, with normal sclerae (166220). Most cases of OI are autosomal dominant with mutations in 1 of the 2 genes that code for type I collagen alpha chains, COL1A1 (120150) and COL1A2 (120160). Martinez-Glez et al. (2012) described osteogenesis imperfecta type XIII, an autosomal recessive form of the disorder characterized by normal teeth, faint blue sclerae, severe growth deficiency, borderline osteoporosis, and an average of 10 to 15 fractures a year affecting both upper and lower limbs and with severe bone deformity.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/766801">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_767579"><div><strong>Osteosclerotic metaphyseal dysplasia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>767579</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.">C3554665</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Osteosclerotic metaphyseal dysplasia (OSMD) is a rare condition characterized by distinctive radiographic changes, including osteosclerosis localized predominantly to the metaphyses of the long bones. The shafts of the long bones are osteopenic. Laboratory abnormalities include elevated alkaline phosphatase levels in some, but not all, patients. Elevated urinary pyridinoline and deoxypyridinoline levels, markers of osteoclastic activity, have also been reported (Nishimura and Kozlowski, 1993; Kasapkara et al., 2013; Guo et al., 2017).&#13; Patients with OSMD have been described who also show hypotonia, developmental delay, seizures, and later-onset spastic paraplegia; however, OSMD resulting from mutation in the LRRK1 gene does not appear to include these neurologic features (Nishimura and Kozlowski, 1993; Kasapkara et al., 2013; Guo et al., 2017).&#13; Reviews&#13; Howaldt et al. (2020) reviewed published reports of LRRK1-associated OSMD, and noted that patients typically present with recurrent pathologic fractures and osteosclerosis at multiple skeletal sites, predominantly at the metaphyses and vertebral bodies. Variable degrees of osteosclerosis of ribs and skull and of Erlenmeyer flask deformity of the femurs have been observed.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/767579">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_934592"><div><strong>Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>934592</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.">C4310625</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">A rare syndromic optic nerve hypoplasia with characteristics of coloboma, osteopetrosis (particularly of the anterior ribs and femoral heads), severe microphthalmia, macrocephaly, albinism, and profound congenital deafness. Patients may also have additional eye anomalies including microcornea with pannus, dense bilateral cataracts, and translucent irides. Craniofacial dysmorphism (including frontal bossing, shallow orbits, preauricular pits, posteriorly rotated ears, micrognathia and wide palatine ridges) is also reported.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/934592">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_934752"><div><strong>Trichothiodystrophy 6, nonphotosensitive</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>934752</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.">C4310785</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Trichothiodystrophy is also associated with recurrent infections, particularly respiratory infections, which can be life-threatening. People with trichothiodystrophy may have abnormal red blood cells, including red blood cells that are smaller than normal. They may also have elevated levels of a type of hemoglobin called A2, which is a protein found in red blood cells. Other features of trichothiodystrophy can include dry, scaly skin (ichthyosis); abnormalities of the fingernails and toenails; clouding of the lens in both eyes from birth (congenital cataracts); poor coordination; and skeletal abnormalities including degeneration of both hips at an early age.\n\nAbout half of all people with trichothiodystrophy have a photosensitive form of the disorder, which causes them to be extremely sensitive to ultraviolet (UV) rays from sunlight. They develop a severe sunburn after spending just a few minutes in the sun. However, for reasons that are unclear, they do not develop other sun-related problems such as excessive freckling of the skin or an increased risk of skin cancer. Many people with trichothiodystrophy report that they do not sweat.\n\nIntellectual disability and delayed development are common in people with trichothiodystrophy, although most affected individuals are highly social with an outgoing and engaging personality. Some people with trichothiodystrophy have brain abnormalities that can be seen with imaging tests. A common neurological feature of this disorder is impaired myelin production (dysmyelination). Myelin is a fatty substance that insulates nerve cells and promotes the rapid transmission of nerve impulses.\n\nMothers of children with trichothiodystrophy may experience problems during pregnancy including pregnancy-induced high blood pressure (preeclampsia) and a related condition called HELLP syndrome that can damage the liver. Babies with trichothiodystrophy are at increased risk of premature birth, low birth weight, and slow growth. Most children with trichothiodystrophy have short stature compared to others their age. \n\nThe signs and symptoms of trichothiodystrophy vary widely. Mild cases may involve only the hair. More severe cases also cause delayed development, significant intellectual disability, and recurrent infections; severely affected individuals may survive only into infancy or early childhood.\n\nIn people with trichothiodystrophy, tests show that the hair is lacking sulfur-containing proteins that normally gives hair its strength. A cross section of a cut hair shows alternating light and dark banding that has been described as a "tiger tail."\n\nTrichothiodystrophy, commonly called TTD, is a rare inherited condition that affects many parts of the body. The hallmark of this condition is hair that is sparse and easily broken. </div>
<div class="spaceAbove nowrap">See: <a href="/medgen/934752">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1373312"><div><strong>Autosomal dominant Kenny-Caffey syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1373312</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.">C4316787</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">FAM111A-related skeletal dysplasias include the milder phenotype of Kenny-Caffey syndrome (KCS) and a more severe lethal phenotype, osteocraniostenosis (OCS). KCS is characterized by proportionate short stature (typically postnatal onset), relative macrocephaly, large anterior fontanel with delayed closure, characteristic facial features, cortical thickening of the long bones with stenosis of the medullary cavity, and ophthalmologic and dental manifestations. OCS is characterized by intrauterine growth deficiency, microcephaly, characteristic facial features, decreased skull ossification, slender long bones with cortical thickening, stenosis of the medullary cavity of the long bones, flared metaphyses, and thin ribs with thoracic and pulmonary hypoplasia leading to respiratory insufficiency. Perinatal fractures may occur. Primary hypoparathyroidism with hypocalcemia and hyperphosphatemia can occur in individuals with KCS and OCS.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1373312">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1632314"><div><strong>Hypophosphatemic rickets, autosomal recessive, 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1632314</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.">C4551495</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Hereditary hypophosphatemic rickets is a disorder related to low levels of phosphate in the blood (hypophosphatemia). Phosphate is a mineral that is essential for the normal formation of bones and teeth.\n\nIn most cases, the signs and symptoms of hereditary hypophosphatemic rickets begin in early childhood. The features of the disorder vary widely, even among affected members of the same family. Mildly affected individuals may have hypophosphatemia without other signs and symptoms. More severely affected children experience slow growth and are shorter than their peers. They develop bone abnormalities that can interfere with movement and cause bone pain. The most noticeable of these abnormalities are bowed legs or knock knees. These abnormalities become apparent with weight-bearing activities such as walking. If untreated, they tend to worsen with time.\n\nOther signs and symptoms of hereditary hypophosphatemic rickets can include premature fusion of the skull bones (craniosynostosis) and dental abnormalities. The disorder may also cause abnormal bone growth where ligaments and tendons attach to joints (enthesopathy). In adults, hypophosphatemia is characterized by a softening of the bones known as osteomalacia.\n\nResearchers have described several forms of hereditary hypophosphatemic rickets, which are distinguished by their pattern of inheritance and genetic cause. The most common form of the disorder is known as X-linked hypophosphatemic rickets (XLH). It has an X-linked dominant pattern of inheritance. X-linked recessive, autosomal dominant, and autosomal recessive forms of the disorder are much rarer.\n\nAnother rare type of the disorder is known as hereditary hypophosphatemic rickets with hypercalciuria (HHRH). In addition to hypophosphatemia, this condition is characterized by the excretion of high levels of calcium in the urine (hypercalciuria).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1632314">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1674972"><div><strong>BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1674972</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.">C4759928</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Obesity due to mutation in the MC4R gene is the most common cause of monogenic obesity. Patients have early-onset severe obesity and hyperphagia (Farooqi et al., 2003).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1674972">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1841123"><div><strong>Osteopetrosis, autosomal recessive 9</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1841123</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.">C5830487</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Autosomal recessive osteopetrosis-9 (OPTB9) is characterized by increased bone density and bone fragility, as well as renal failure. Vision may be compromised due to compression of the optic nerve secondary to osteopetrotic stenosis of the optic nerve canal (Xue et al., 2022).&#13; For a general phenotypic description and discussion of genetic heterogeneity of autosomal recessive osteopetrosis, see OPTB1 (259700).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1841123">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1844026"><div><strong>Craniometadiaphyseal osteosclerosis with hip dysplasia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1844026</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.">C5882710</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Craniometadiaphyseal osteosclerosis with hip dysplasia (CMDOH) is characterized by macrocephaly, cranial hyperostosis, and vertebral endplate sclerosis. Other frequent findings include hip dysplasia, heart malformations, variable developmental delay, and hematologic anomalies including anemia and pancytopenia. Bone biopsy shows evidence of increased osteoblast and reduced osteoclast function at the growth plate resorption zone, resulting in coarse trabeculae (Terhal et al., 2023).&#13; For syndromes with overlapping features, see osteopetrosis, autosomal recessive (OPTB1; 259700) and dominant (OPTA1; 607634), and osteopathia with cranial sclerosis (OSCS; 300373).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1844026">Condition Record</a></div></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_3486" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cleidocranial dysostosis</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_460981" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Melorheostosis</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_767579" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Osteosclerotic metaphyseal dysplasia</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_75658" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Primary hyperoxaluria, type I</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_337844" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pyknoachondrogenesis</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_116061" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pyknodysostosis</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_78555" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Tricho-dento-osseous syndrome</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_934752" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Trichothiodystrophy 6, nonphotosensitive</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/35513519">Overview of the clinical efficacy and safety of eldecalcitol for the treatment of osteoporosis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Cui L,
Xia W,
Yu C,
Dong S,
Pei Y</span><br />
<span class="medgenPMjournal">Arch Osteoporos</span>
2022 May 5;17(1):74.
doi: 10.1007/s11657-022-01071-3.
<span class="bold">PMID: </span><a href="/pubmed/35513519" target="_blank">35513519</a><a href="/pmc/articles/PMC9072485" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/30019224">Denosumab in the treatment of glucocorticoid-induced osteoporosis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Coskun Benlidayi I</span><br />
<span class="medgenPMjournal">Rheumatol Int</span>
2018 Nov;38(11):1975-1984.
Epub 2018 Jul 17
doi: 10.1007/s00296-018-4106-1.
<span class="bold">PMID: </span><a href="/pubmed/30019224" target="_blank">30019224</a></div>
<div class="nl"><a target="_blank" href="/pubmed/28651365">Cathepsin K Inhibitors for Osteoporosis: Biology, Potential Clinical Utility, and Lessons Learned.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Drake MT,
Clarke BL,
Oursler MJ,
Khosla S</span><br />
<span class="medgenPMjournal">Endocr Rev</span>
2017 Aug 1;38(4):325-350.
doi: 10.1210/er.2015-1114.
<span class="bold">PMID: </span><a href="/pubmed/28651365" target="_blank">28651365</a><a href="/pmc/articles/PMC5546879" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22increased%20bone%20mineral%20density%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 (39)</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/34432115">A systematic review and meta-analysis of efficacy and safety of Romosozumab in postmenopausal osteoporosis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Singh S,
Dutta S,
Khasbage S,
Kumar T,
Sachin J,
Sharma J,
Varthya SB</span><br />
<span class="medgenPMjournal">Osteoporos Int</span>
2022 Jan;33(1):1-12.
Epub 2021 Aug 25
doi: 10.1007/s00198-021-06095-y.
<span class="bold">PMID: </span><a href="/pubmed/34432115" target="_blank">34432115</a><a href="/pmc/articles/PMC9003152" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/26144908">Denosumab and teriparatide transitions in postmenopausal osteoporosis (the DATA-Switch study): extension of a randomised controlled trial.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Leder BZ,
Tsai JN,
Uihlein AV,
Wallace PM,
Lee H,
Neer RM,
Burnett-Bowie SA</span><br />
<span class="medgenPMjournal">Lancet</span>
2015 Sep 19;386(9999):1147-55.
Epub 2015 Jul 2
doi: 10.1016/S0140-6736(15)61120-5.
<span class="bold">PMID: </span><a href="/pubmed/26144908" target="_blank">26144908</a><a href="/pmc/articles/PMC4620731" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/24382002">Romosozumab in postmenopausal women with low bone mineral density.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">McClung MR,
Grauer A,
Boonen S,
Bolognese MA,
Brown JP,
Diez-Perez A,
Langdahl BL,
Reginster JY,
Zanchetta JR,
Wasserman SM,
Katz L,
Maddox J,
Yang YC,
Libanati C,
Bone HG</span><br />
<span class="medgenPMjournal">N Engl J Med</span>
2014 Jan 30;370(5):412-20.
Epub 2014 Jan 1
doi: 10.1056/NEJMoa1305224.
<span class="bold">PMID: </span><a href="/pubmed/24382002" target="_blank">24382002</a></div>
<div class="nl"><a target="_blank" href="/pubmed/11665913">Musculoskeletal fitness, health outcomes and quality of life.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Kell RT,
Bell G,
Quinney A</span><br />
<span class="medgenPMjournal">Sports Med</span>
2001;31(12):863-73.
doi: 10.2165/00007256-200131120-00003.
<span class="bold">PMID: </span><a href="/pubmed/11665913" target="_blank">11665913</a></div>
<div class="nl"><a target="_blank" href="/pubmed/11346808">Effect of parathyroid hormone (1-34) on fractures and bone mineral density in postmenopausal women with osteoporosis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Neer RM,
Arnaud CD,
Zanchetta JR,
Prince R,
Gaich GA,
Reginster JY,
Hodsman AB,
Eriksen EF,
Ish-Shalom S,
Genant HK,
Wang O,
Mitlak BH</span><br />
<span class="medgenPMjournal">N Engl J Med</span>
2001 May 10;344(19):1434-41.
doi: 10.1056/NEJM200105103441904.
<span class="bold">PMID: </span><a href="/pubmed/11346808" target="_blank">11346808</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Increased%20bone%20mineral%20density%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 (294)</a></div><h3 class="subhead">Diagnosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/39360256">Cardiometabolic index is associated with increased bone mineral density: a population-based cross-sectional study.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Wu X,
Jin X,
Xu W,
She C,
Li L,
Mao Y</span><br />
<span class="medgenPMjournal">Front Public Health</span>
2024;12:1403450.
Epub 2024 Sep 18
doi: 10.3389/fpubh.2024.1403450.
<span class="bold">PMID: </span><a href="/pubmed/39360256" target="_blank">39360256</a><a href="/pmc/articles/PMC11445160" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/36545331">Sclerostin as a biomarker of physical exercise in osteoporosis: A narrative review.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Oniszczuk A,
Kaczmarek A,
Kaczmarek M,
Ciałowicz M,
Arslan E,
Silva AF,
Clemente FM,
Murawska-Ciałowicz E</span><br />
<span class="medgenPMjournal">Front Endocrinol (Lausanne)</span>
2022;13:954895.
Epub 2022 Dec 5
doi: 10.3389/fendo.2022.954895.
<span class="bold">PMID: </span><a href="/pubmed/36545331" target="_blank">36545331</a><a href="/pmc/articles/PMC9760825" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/30019224">Denosumab in the treatment of glucocorticoid-induced osteoporosis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Coskun Benlidayi I</span><br />
<span class="medgenPMjournal">Rheumatol Int</span>
2018 Nov;38(11):1975-1984.
Epub 2018 Jul 17
doi: 10.1007/s00296-018-4106-1.
<span class="bold">PMID: </span><a href="/pubmed/30019224" target="_blank">30019224</a></div>
<div class="nl"><a target="_blank" href="/pubmed/27481443">The diabetic paradox: Bone mineral density and fracture in type 2 diabetes.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Botella Martínez S,
Varo Cenarruzabeitia N,
Escalada San Martin J,
Calleja Canelas A</span><br />
<span class="medgenPMjournal">Endocrinol Nutr</span>
2016 Nov;63(9):495-501.
doi: 10.1016/j.endonu.2016.06.004.
<span class="bold">PMID: </span><a href="/pubmed/27481443" target="_blank">27481443</a></div>
<div class="nl"><a target="_blank" href="/pubmed/15635498">Adrenal androgens and intracrinology.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Labrie F</span><br />
<span class="medgenPMjournal">Semin Reprod Med</span>
2004 Nov;22(4):299-309.
doi: 10.1055/s-2004-861547.
<span class="bold">PMID: </span><a href="/pubmed/15635498" target="_blank">15635498</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Increased%20bone%20mineral%20density%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 (59)</a></div><h3 class="subhead">Therapy</h3>
<div class="nl"><a target="_blank" href="/pubmed/36190391">The Efficacy and Safety of Abaloparatide-SC in Men With Osteoporosis: A Randomized Clinical Trial.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Czerwinski E,
Cardona J,
Plebanski R,
Recknor C,
Vokes T,
Saag KG,
Binkley N,
Lewiecki EM,
Adachi J,
Knychas D,
Kendler D,
Orwoll E,
Chen Y,
Pearman L,
Li YH,
Mitlak B</span><br />
<span class="medgenPMjournal">J Bone Miner Res</span>
2022 Dec;37(12):2435-2442.
Epub 2022 Oct 18
doi: 10.1002/jbmr.4719.
<span class="bold">PMID: </span><a href="/pubmed/36190391" target="_blank">36190391</a><a href="/pmc/articles/PMC10091818" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/34432115">A systematic review and meta-analysis of efficacy and safety of Romosozumab in postmenopausal osteoporosis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Singh S,
Dutta S,
Khasbage S,
Kumar T,
Sachin J,
Sharma J,
Varthya SB</span><br />
<span class="medgenPMjournal">Osteoporos Int</span>
2022 Jan;33(1):1-12.
Epub 2021 Aug 25
doi: 10.1007/s00198-021-06095-y.
<span class="bold">PMID: </span><a href="/pubmed/34432115" target="_blank">34432115</a><a href="/pmc/articles/PMC9003152" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/26144908">Denosumab and teriparatide transitions in postmenopausal osteoporosis (the DATA-Switch study): extension of a randomised controlled trial.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Leder BZ,
Tsai JN,
Uihlein AV,
Wallace PM,
Lee H,
Neer RM,
Burnett-Bowie SA</span><br />
<span class="medgenPMjournal">Lancet</span>
2015 Sep 19;386(9999):1147-55.
Epub 2015 Jul 2
doi: 10.1016/S0140-6736(15)61120-5.
<span class="bold">PMID: </span><a href="/pubmed/26144908" target="_blank">26144908</a><a href="/pmc/articles/PMC4620731" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/24382002">Romosozumab in postmenopausal women with low bone mineral density.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">McClung MR,
Grauer A,
Boonen S,
Bolognese MA,
Brown JP,
Diez-Perez A,
Langdahl BL,
Reginster JY,
Zanchetta JR,
Wasserman SM,
Katz L,
Maddox J,
Yang YC,
Libanati C,
Bone HG</span><br />
<span class="medgenPMjournal">N Engl J Med</span>
2014 Jan 30;370(5):412-20.
Epub 2014 Jan 1
doi: 10.1056/NEJMoa1305224.
<span class="bold">PMID: </span><a href="/pubmed/24382002" target="_blank">24382002</a></div>
<div class="nl"><a target="_blank" href="/pubmed/11346808">Effect of parathyroid hormone (1-34) on fractures and bone mineral density in postmenopausal women with osteoporosis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Neer RM,
Arnaud CD,
Zanchetta JR,
Prince R,
Gaich GA,
Reginster JY,
Hodsman AB,
Eriksen EF,
Ish-Shalom S,
Genant HK,
Wang O,
Mitlak BH</span><br />
<span class="medgenPMjournal">N Engl J Med</span>
2001 May 10;344(19):1434-41.
doi: 10.1056/NEJM200105103441904.
<span class="bold">PMID: </span><a href="/pubmed/11346808" target="_blank">11346808</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Increased%20bone%20mineral%20density%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 (268)</a></div><h3 class="subhead">Prognosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/26144908">Denosumab and teriparatide transitions in postmenopausal osteoporosis (the DATA-Switch study): extension of a randomised controlled trial.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Leder BZ,
Tsai JN,
Uihlein AV,
Wallace PM,
Lee H,
Neer RM,
Burnett-Bowie SA</span><br />
<span class="medgenPMjournal">Lancet</span>
2015 Sep 19;386(9999):1147-55.
Epub 2015 Jul 2
doi: 10.1016/S0140-6736(15)61120-5.
<span class="bold">PMID: </span><a href="/pubmed/26144908" target="_blank">26144908</a><a href="/pmc/articles/PMC4620731" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/23471742">Diabetes mellitus and osteoporosis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Sealand R,
Razavi C,
Adler RA</span><br />
<span class="medgenPMjournal">Curr Diab Rep</span>
2013 Jun;13(3):411-8.
doi: 10.1007/s11892-013-0376-x.
<span class="bold">PMID: </span><a href="/pubmed/23471742" target="_blank">23471742</a></div>
<div class="nl"><a target="_blank" href="/pubmed/22233553">Increased bone mineral density in the non-resurfaced patella after total knee arthroplasty: a clinical and densitometric study.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Di Martino A,
Franceschi F,
Papalia R,
Marini M,
Prossomariti G,
Maffulli N,
Denaro V</span><br />
<span class="medgenPMjournal">Surgeon</span>
2012 Feb;10(1):20-4.
Epub 2011 Feb 9
doi: 10.1016/j.surge.2011.01.001.
<span class="bold">PMID: </span><a href="/pubmed/22233553" target="_blank">22233553</a></div>
<div class="nl"><a target="_blank" href="/pubmed/21289258">Effects of denosumab treatment and discontinuation on bone mineral density and bone turnover markers in postmenopausal women with low bone mass.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Bone HG,
Bolognese MA,
Yuen CK,
Kendler DL,
Miller PD,
Yang YC,
Grazette L,
San Martin J,
Gallagher JC</span><br />
<span class="medgenPMjournal">J Clin Endocrinol Metab</span>
2011 Apr;96(4):972-80.
Epub 2011 Feb 2
doi: 10.1210/jc.2010-1502.
<span class="bold">PMID: </span><a href="/pubmed/21289258" target="_blank">21289258</a></div>
<div class="nl"><a target="_blank" href="/pubmed/20232652">Bone mineral density and fracture risk in patients with type 1 and type 2 diabetes mellitus.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Botushanov NP,
Orbetzova MM</span><br />
<span class="medgenPMjournal">Folia Med (Plovdiv)</span>
2009 Oct-Dec;51(4):12-7.
<span class="bold">PMID: </span><a href="/pubmed/20232652" target="_blank">20232652</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Increased%20bone%20mineral%20density%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 (62)</a></div><h3 class="subhead">Clinical prediction guides</h3>
<div class="nl"><a target="_blank" href="/pubmed/36190391">The Efficacy and Safety of Abaloparatide-SC in Men With Osteoporosis: A Randomized Clinical Trial.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Czerwinski E,
Cardona J,
Plebanski R,
Recknor C,
Vokes T,
Saag KG,
Binkley N,
Lewiecki EM,
Adachi J,
Knychas D,
Kendler D,
Orwoll E,
Chen Y,
Pearman L,
Li YH,
Mitlak B</span><br />
<span class="medgenPMjournal">J Bone Miner Res</span>
2022 Dec;37(12):2435-2442.
Epub 2022 Oct 18
doi: 10.1002/jbmr.4719.
<span class="bold">PMID: </span><a href="/pubmed/36190391" target="_blank">36190391</a><a href="/pmc/articles/PMC10091818" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/34432115">A systematic review and meta-analysis of efficacy and safety of Romosozumab in postmenopausal osteoporosis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Singh S,
Dutta S,
Khasbage S,
Kumar T,
Sachin J,
Sharma J,
Varthya SB</span><br />
<span class="medgenPMjournal">Osteoporos Int</span>
2022 Jan;33(1):1-12.
Epub 2021 Aug 25
doi: 10.1007/s00198-021-06095-y.
<span class="bold">PMID: </span><a href="/pubmed/34432115" target="_blank">34432115</a><a href="/pmc/articles/PMC9003152" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/29694685">Effects of 24 Months of Treatment With Romosozumab Followed by 12 Months of Denosumab or Placebo in Postmenopausal Women With Low Bone Mineral Density: A Randomized, Double-Blind, Phase 2, Parallel Group Study.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">McClung MR,
Brown JP,
Diez-Perez A,
Resch H,
Caminis J,
Meisner P,
Bolognese MA,
Goemaere S,
Bone HG,
Zanchetta JR,
Maddox J,
Bray S,
Grauer A</span><br />
<span class="medgenPMjournal">J Bone Miner Res</span>
2018 Aug;33(8):1397-1406.
Epub 2018 May 22
doi: 10.1002/jbmr.3452.
<span class="bold">PMID: </span><a href="/pubmed/29694685" target="_blank">29694685</a></div>
<div class="nl"><a target="_blank" href="/pubmed/24382002">Romosozumab in postmenopausal women with low bone mineral density.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">McClung MR,
Grauer A,
Boonen S,
Bolognese MA,
Brown JP,
Diez-Perez A,
Langdahl BL,
Reginster JY,
Zanchetta JR,
Wasserman SM,
Katz L,
Maddox J,
Yang YC,
Libanati C,
Bone HG</span><br />
<span class="medgenPMjournal">N Engl J Med</span>
2014 Jan 30;370(5):412-20.
Epub 2014 Jan 1
doi: 10.1056/NEJMoa1305224.
<span class="bold">PMID: </span><a href="/pubmed/24382002" target="_blank">24382002</a></div>
<div class="nl"><a target="_blank" href="/pubmed/11346808">Effect of parathyroid hormone (1-34) on fractures and bone mineral density in postmenopausal women with osteoporosis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Neer RM,
Arnaud CD,
Zanchetta JR,
Prince R,
Gaich GA,
Reginster JY,
Hodsman AB,
Eriksen EF,
Ish-Shalom S,
Genant HK,
Wang O,
Mitlak BH</span><br />
<span class="medgenPMjournal">N Engl J Med</span>
2001 May 10;344(19):1434-41.
doi: 10.1056/NEJM200105103441904.
<span class="bold">PMID: </span><a href="/pubmed/11346808" target="_blank">11346808</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Increased%20bone%20mineral%20density%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 (180)</a></div></div>
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<div class="nl"><a target="_blank" href="/pubmed/39312040">Efficacy and safety of teriparatide vs. bisphosphonates and denosumab vs. bisphosphonates in osteoporosis not previously treated with bisphosphonates: a systematic review and meta-analysis of randomized controlled trials.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Li M,
Ge Z,
Zhang B,
Sun L,
Wang Z,
Zou T,
Chen Q</span><br />
<span class="medgenPMjournal">Arch Osteoporos</span>
2024 Sep 23;19(1):89.
doi: 10.1007/s11657-024-01447-7.
<span class="bold">PMID: </span><a href="/pubmed/39312040" target="_blank">39312040</a><a href="/pmc/articles/PMC11420281" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/38979716">Bone-modifying agents for reducing bone loss in women with early and locally advanced breast cancer: a network meta-analysis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Adams A,
Jakob T,
Huth A,
Monsef I,
Ernst M,
Kopp M,
Caro-Valenzuela J,
Wöckel A,
Skoetz N</span><br />
<span class="medgenPMjournal">Cochrane Database Syst Rev</span>
2024 Jul 9;7(7):CD013451.
doi: 10.1002/14651858.CD013451.pub2.
<span class="bold">PMID: </span><a href="/pubmed/38979716" target="_blank">38979716</a><a href="/pmc/articles/PMC11232105" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/35513519">Overview of the clinical efficacy and safety of eldecalcitol for the treatment of osteoporosis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Cui L,
Xia W,
Yu C,
Dong S,
Pei Y</span><br />
<span class="medgenPMjournal">Arch Osteoporos</span>
2022 May 5;17(1):74.
doi: 10.1007/s11657-022-01071-3.
<span class="bold">PMID: </span><a href="/pubmed/35513519" target="_blank">35513519</a><a href="/pmc/articles/PMC9072485" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/34432115">A systematic review and meta-analysis of efficacy and safety of Romosozumab in postmenopausal osteoporosis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Singh S,
Dutta S,
Khasbage S,
Kumar T,
Sachin J,
Sharma J,
Varthya SB</span><br />
<span class="medgenPMjournal">Osteoporos Int</span>
2022 Jan;33(1):1-12.
Epub 2021 Aug 25
doi: 10.1007/s00198-021-06095-y.
<span class="bold">PMID: </span><a href="/pubmed/34432115" target="_blank">34432115</a><a href="/pmc/articles/PMC9003152" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/23016823">Effect of non-steroidal anti-inflammatory drugs on bone turnover: an evidence-based review.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Konstantinidis I,
Papageorgiou SN,
Kyrgidis A,
Tzellos TG,
Kouvelas D</span><br />
<span class="medgenPMjournal">Rev Recent Clin Trials</span>
2013 Mar;8(1):48-60.
doi: 10.2174/1574887111308010008.
<span class="bold">PMID: </span><a href="/pubmed/23016823" target="_blank">23016823</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Increased%20bone%20mineral%20density%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 (15)</a></div></div>
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