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<!--
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||
UID=42095
|
||
ConceptID=C0016663
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Pathologic fracture</div></h1><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) Click for more information.">C0016663</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>Fracture, Pathologic; Fracture, Pathological; Fracture, Spontaneous; Fractures, Pathologic; Fractures, Pathological; Fractures, Spontaneous; Pathologic Fracture; Pathologic Fractures; Pathological Fracture; Pathological Fractures; Spontaneous Fracture; Spontaneous Fractures</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Pathologic fracture (22640007); Spontaneous fracture (22640007); Pathological fracture (268029009); Spontaneous fracture (268029009)</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:0002756">HP:0002756</a></td></tr>
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<div class="portlet_content ln">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. [from <a title="Human Phenotype Ontology" href="http://www.human-phenotype-ontology.org" class="defSource" target="_blank">HPO</a>]</div>
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<div class="portlet_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>
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<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0016663[DISCUI]&test_type=Clinical" ref="ncbi_uid=42095">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&from_uid=42095" ref="ncbi_uid=42095">V</a></span></span><span class="TLline">Pathologic fracture</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/867443" ref="tree=MeSH" title="MedGen record for Phenotypic abnormality">Phenotypic abnormality</a></span><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/1728335" ref="tree=MeSH" title="MedGen record for Abnormal musculoskeletal physiology">Abnormal musculoskeletal physiology</a></span><ul><li><span class="TLline"><a href="/medgen/234655" ref="tree=MeSH" title="MedGen record for Increased susceptibility to fractures">Increased susceptibility to fractures</a></span><ul><li><span class="matched_ds">Pathologic fracture</span></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
|
||
</div>
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||
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<div class="portlet mgSection" id="ID_112">
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<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>
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<div class="portlet_content ln clinfeat">
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||
<div class="divPopper rprt" id="rdis_7437"><div><strong>Maffucci syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>7437</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0024454</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Enchondromas are common benign cartilage tumors of bone. They can occur as solitary lesions or as multiple lesions in enchondromatosis. When hemangiomata are associated, the condition is known as Maffucci syndrome. Clinical problems caused by enchondromas include skeletal deformity and the potential for malignant change to osteosarcoma (Schwartz et al., 1987). Classification of the Enchondromatoses In their classification of the enchondromatoses, Spranger et al. (1978) called Ollier disease (166000) and Maffucci syndrome types I and II enchondromatosis, respectively; metachondromatosis (156250), type III; and spondyloenchondrodysplasia (607944), type IV; enchondromatosis with irregular vertebral lesions, type V; and generalized enchondromatosis, type VI. Halal and Azouz (1991) added 3 tentative categories to the 6 in the classification of Spranger et al. (1978). Pansuriya et al. (2010) suggested a new classification of enchondromatosis (multiple enchondromas).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/7437">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_18145"><div><strong>Lowe syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>18145</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0028860</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Lowe syndrome (oculocerebrorenal syndrome) is characterized by involvement of the eyes, central nervous system, and kidneys. Dense congenital cataracts are found in all affected boys and infantile glaucoma in approximately 50%. All boys have impaired vision; corrected acuity is rarely better than 20/100. Generalized hypotonia is noted at birth and is of central (brain) origin. Deep tendon reflexes are usually absent. Hypotonia may slowly improve with age, but normal motor tone and strength are never achieved. Motor milestones are delayed. Almost all affected males have some degree of intellectual disability; 10%-25% function in the low-normal or borderline range, approximately 25% in the mild-to-moderate range, and 50%-65% in the severe-to-profound range of intellectual disability. Affected males have varying degrees of proximal renal tubular dysfunction of the Fanconi type, including low molecular-weight (LMW) proteinuria, aminoaciduria, bicarbonate wasting and renal tubular acidosis, phosphaturia with hypophosphatemia and renal rickets, hypercalciuria, sodium and potassium wasting, and polyuria. The features of symptomatic Fanconi syndrome do not usually become manifest until after the first few months of life, except for LMW proteinuria. Glomerulosclerosis associated with chronic tubular injury usually results in slowly progressive chronic renal failure and end-stage renal disease between the second and fourth decades of life.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/18145">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_69164"><div><strong>McCune-Albright syndrome</strong><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) Click for more information.">C0242292</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">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.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/69164">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_120529"><div><strong>Metaphyseal chondrodysplasia, Jansen type</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>120529</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0265295</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The Murk Jansen type of metaphyseal chondrodysplasia is characterized by severe short stature, short bowed limbs, clinodactyly, prominent upper face, and small mandible. Hypercalcemia and hypophosphatemia occur despite the lack of parathyroid abnormalities (summary by Cohen, 2002).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/120529">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) 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 <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>
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<div class="spaceAbove nowrap">See: <a href="/medgen/75658">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_78649"><div><strong>Aspartylglucosaminuria</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>78649</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0268225</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
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<div class="spaceAbove">Aspartylglucosaminuria is a lysosomal storage disorder characterized by developmental delay, intellectual disability, behavioral manifestations (hyperactivity in young children, anxiety and restlessness in adolescence, and apathy in adulthood), recurrent infections, musculoskeletal features, and characteristic craniofacial features (prominent supraorbital ridges, hypertelorism, periorbital fullness, short nose with broad nasal bridge, thick vermilion of the upper and lower lips, and macroglossia) that become more prominent with age. Additional neurologic manifestations can include seizures, poor balance and coordination, and progressive cerebral atrophy in adulthood. Macrocephaly is common. Musculoskeletal features include lordosis, scoliosis, and arthritis in adolescents and young adults; vertebral dysplasia and/or rib cage abnormalities; and progressive muscle wasting, joint contractures, bursitis, and osteoporosis in adulthood. Skin manifestations (facial seborrhea, rosacea, and angiofibromas), gastrointestinal manifestations, neutropenia, and thrombocytopenia occur in some individuals. The clinical manifestations of aspartylglucosaminuria worsen with age, and adults have progressive psychomotor decline.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/78649">Condition Record</a></div></div>
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||
<div class="divPopper rprt" id="rdis_120636"><div><strong>Adult hypophosphatasia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>120636</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0268413</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
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<div class="spaceAbove">Hypophosphatasia is characterized by defective mineralization of growing or remodeling bone, with or without root-intact tooth loss, in the presence of low activity of serum and bone alkaline phosphatase. Clinical features range from stillbirth without mineralized bone at the severe end to pathologic fractures of the lower extremities in later adulthood at the mild end. While the disease spectrum is a continuum, seven clinical forms of hypophosphatasia are usually recognized based on age at diagnosis and severity of features: Perinatal (severe): Characterized by pulmonary insufficiency and hypercalcemia Perinatal (benign): Prenatal skeletal manifestations that slowly resolve into one of the milder forms Infantile: Onset between birth and age six months of clinical features of rickets without elevated serum alkaline phosphatase activity Severe childhood (juvenile): Variable presenting features progressing to rickets Mild childhood: Low bone mineral density for age, increased risk of fracture, and premature loss of primary teeth with intact roots Adult: Characterized by stress fractures and pseudofractures of the lower extremities in middle age, sometimes associated with early loss of adult dentition Odontohypophosphatasia: Characterized by premature exfoliation of primary teeth and/or severe dental caries without skeletal manifestations</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/120636">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_82803"><div><strong>Inborn glycerol kinase deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>82803</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0268418</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">NR0B1-related adrenal hypoplasia congenita includes both X-linked adrenal hypoplasia congenita (X-linked AHC) and Xp21 deletion (previously called complex glycerol kinase deficiency). X-linked AHC is characterized by primary adrenal insufficiency and/or hypogonadotropic hypogonadism (HH). Adrenal insufficiency is acute infantile onset (average age 3 weeks) in approximately 60% of affected males and childhood onset (ages 1-9 years) in approximately 40%. HH typically manifests in a male with adrenal insufficiency as delayed puberty (i.e., onset age >14 years) and less commonly as arrested puberty at about Tanner Stage 3. Rarely, X-linked AHC manifests initially in early adulthood as delayed-onset adrenal insufficiency, partial HH, and/or infertility. Heterozygous females very occasionally have manifestations of adrenal insufficiency or hypogonadotropic hypogonadism. Xp21 deletion includes deletion of NR0B1 (causing X-linked AHC) and GK (causing glycerol kinase deficiency), and in some cases deletion of DMD (causing Duchenne muscular dystrophy). Developmental delay has been reported in males with Xp21 deletion when the deletion extends proximally to include DMD or when larger deletions extend distally to include IL1RAPL1 and DMD.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/82803">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_83401"><div><strong>Blue rubber bleb nevus</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>83401</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0346072</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A rare vascular malformation disorder with cutaneous and visceral lesions frequently associated with serious, potentially fatal bleeding and anemia.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/83401">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_98480"><div><strong>Osteoporosis with pseudoglioma</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>98480</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0432252</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Osteoporosis-pseudoglioma syndrome (OPPG) is an autosomal recessive disorder characterized by severe osteoporosis and visual disturbance from childhood. Juvenile onset of osteoporosis manifests as long-bone fractures, vertebral compression fractures, kyphoscoliosis, deformity of extremities, and short stature. Congenital or early-onset visual disturbances arise from ophthalmologic problems including retinal detachment and microphthalmia (summary by Narumi et al., 2010).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/98480">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_96593"><div><strong>Familial expansile osteolysis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>96593</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0432292</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Familial expansile osteolysis is an autosomal dominant bone dysplasia characterized by increased bone remodeling with osteolytic lesions mainly affecting the appendicular skeleton. There is medullary and cortical expansion of the bone without sclerosis, leading to painful and disabling deformities and tendency to pathologic fracture. Clinical features include onset of conductive hearing loss in childhood, premature loss of teeth, and variably increased serum alkaline phosphatase (summary by Palenzuela et al., 2002 and Elahi et al., 2007).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/96593">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_182961"><div><strong>Hajdu-Cheney syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>182961</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0917715</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hajdu-Cheney syndrome (HJCYS) is a rare autosomal dominant skeletal disorder characterized by short stature, coarse and dysmorphic facies, bowing of the long bones, and vertebral anomalies. Facial features include hypertelorism, bushy eyebrows, micrognathia, small mouth with dental anomalies, low-set ears, and short neck. There is progressive focal bone destruction, including acroosteolysis and generalized osteoporosis. Additional and variable features include hearing loss, renal cysts, and cardiovascular anomalies (summary by Ramos et al., 1998; Simpson et al., 2011; Isidor et al., 2011).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/182961">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) 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). Genetic Heterogeneity of Autosomal Recessive Osteopetrosis 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. 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_350613"><div><strong>Diaphyseal medullary stenosis-bone malignancy syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>350613</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1862177</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">Diaphyseal medullary stenosis with malignant fibrous histiocytoma is an autosomal dominant bone dysplasia characterized by pathologic fractures due to abnormal cortical growth and diaphyseal medullary stenosis. The fractures heal poorly, and there is progressive bowing of the lower extremities. In 2 families, affected individuals also showed a limb-girdle myopathy, with muscle weakness and atrophy. Approximately 35% of affected individuals develop an aggressive form of bone sarcoma consistent with malignant fibrous histiocytoma or osteosarcoma. Thus, the disorder may be considered a tumor predisposition syndrome (summary by Camacho-Vanegas et al., 2012).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/350613">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_409531"><div><strong>Gaucher disease type I</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>409531</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1961835</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Gaucher disease (GD) encompasses a continuum of clinical findings from a perinatal-lethal disorder to an asymptomatic type. The characterization of three major clinical types (1, 2, and 3) and two clinical forms (perinatal-lethal and cardiovascular) is useful in determining prognosis and management. Cardiopulmonary complications have been described with all the clinical phenotypes, although varying in frequency and severity. Type 1 GD is characterized by the presence of clinical or radiographic evidence of bone disease (osteopenia, focal lytic or sclerotic lesions, and osteonecrosis), hepatosplenomegaly, anemia, thrombocytopenia, lung disease, and the absence of primary central nervous system disease. Type 2 GD is characterized by primary central nervous system disease with onset before age two years, limited psychomotor development, and a rapidly progressive course with death by age two to four years. Type 3 GD is characterized by primary central nervous system disease with childhood onset, a more slowly progressive course, and survival into the third or fourth decade. The perinatal-lethal form is associated with ichthyosiform or collodion skin abnormalities or with nonimmune hydrops fetalis. The cardiovascular form is characterized by calcification of the aortic and mitral valves, mild splenomegaly, corneal opacities, and supranuclear ophthalmoplegia.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/409531">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_435914"><div><strong>Mucolipidosis type II</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>435914</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C2673377</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">GNPTAB-related disorders comprise the phenotypes mucolipidosis II (ML II) and mucolipidosis IIIa/ß (ML IIIa/ß), and phenotypes intermediate between ML II and ML IIIa/ß. ML II is evident at birth and slowly progressive; death most often occurs in early childhood. Orthopedic abnormalities present at birth may include thoracic deformity, kyphosis, clubfeet, deformed long bones, and/or dislocation of the hip(s). Growth often ceases in the second year of life; contractures develop in all large joints. The skin is thickened, facial features are coarse, and gingiva are hypertrophic. All children have cardiac involvement, most commonly thickening and insufficiency of the mitral valve and, less frequently, the aortic valve. Progressive mucosal thickening narrows the airways, and gradual stiffening of the thoracic cage contributes to respiratory insufficiency, the most common cause of death. ML IIIa/ß becomes evident at about age three years with slow growth rate and short stature; joint stiffness and pain initially in the shoulders, hips, and fingers; gradual mild coarsening of facial features; and normal to mildly impaired cognitive development. Pain from osteoporosis becomes more severe during adolescence. Cardiorespiratory complications (restrictive lung disease, thickening and insufficiency of the mitral and aortic valves, left and/or right ventricular hypertrophy) are common causes of death, typically in early to middle adulthood. Phenotypes intermediate between ML II and ML IIIa/ß are characterized by physical growth in infancy that resembles that of ML II and neuromotor and speech development that resemble that of ML IIIa/ß.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/435914">Condition Record</a></div></div>
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||
<div class="divPopper rprt" id="rdis_382811"><div><strong>Bone fragility with contractures, arterial rupture, and deafness</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>382811</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C2676285</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">BCARD syndrome is an autosomal recessive connective tissue disorder characterized by bone abnormalities, including low bone mineral density, scoliosis, contractures of the fingers and other joints, prominent knees, and rare pathologic fractures; cataract and other ocular abnormalities, including high myopia, optically empty vitreous, and risk for retinal detachment; risk of arterial rupture due to vascular aneurysm or dissection; and sensorineural deafness. Affected individuals also exhibit recognizable craniofacial dysmorphisms, and variable skin features have been observed, including reduced palmar creases, soft skin with easy bruising, and blistering. Developmental delay, which is present in most patients, may be attributable to sensory deficits or medical complications (Ewans et al., 2019).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/382811">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_462796"><div><strong>Nestor-Guillermo progeria syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>462796</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C3151446</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Nestor-Guillermo progeria syndrome (NGPS) is an autosomal recessive disorder characterized by lipoatrophy, osteoporosis, and very severe osteolysis. Patients have no cardiovascular impairment, diabetes mellitus, or hypertriglyceridemia, but suffer profound skeletal abnormalities that affect their quality of life. Onset is after 2 years of age, and lifespan is relatively long (summary by Cabanillas et al., 2011).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/462796">Condition Record</a></div></div>
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||
<div class="divPopper rprt" id="rdis_481870"><div><strong>Microcephaly, epilepsy, and diabetes syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>481870</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C3280240</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome is a rare, genetic, neurologic disease characterized by congenital microcephaly, severe, early-onset epileptic encephalopathy (manifesting as intractable, myoclonic and/or tonic-clonic seizures), permanent, neonatal, insulin-dependent diabetes mellitus, and severe global developmental delay. Muscular hypotonia, skeletal abnormalities, feeding difficulties, and dysmorphic facial features (including narrow forehead, anteverted nares, small mouth with deep philtrum, tented upper lip vermilion) are frequently associated. Brain MRI reveals cerebral atrophy with cortical gyral simplification and aplasia/hypoplasia of the corpus callosum.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/481870">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_865814"><div><strong>Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>865814</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4017377</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Any spondyloepimetaphyseal dysplasia with joint laxity in which the cause of the disease is a mutation in the B3GALT6 gene.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/865814">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_895748"><div><strong>Osteofibrous dysplasia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>895748</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4085248</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
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||
<div class="spaceAbove">Osteofibrous dysplasia (OSFD) is a tumor-like bone lesion that usually presents as a painless swelling or anterior bowing of the tibia (Park et al., 1993), although pain may occur in up to 25% of cases and presentation may follow pathologic fracture. Most reports of osteofibrous dysplasia describe isolated tibial lesions, although a significant subgroup describe isolated and ipsilateral fibular involvement. Cases with ulnar and radial involvement have been reported (summary by Hunter and Jarvis, 2002). OSFD is characterized by radiolucent lesions located at the periosteal surface of the diaphyseal cortex, almost exclusively of the tibia and fibula. These lesions are congenital and spontaneously resolve during skeletal maturation; the residuum is most commonly mild bowing at the affected site. Prior to their resolution, secondary complications such as nonunion fractures and pseudoarthrosis formation can occur. Histologically, OSFD lesions exhibit 'zonal architecture' characterized by spindle-shaped fibroblast-like cells in the center of the lesions that are progressively replaced with peripherally located, more differentiated cells from the osteoblastic lineage. The cells lying at the center of the lesions stain for markers of undifferentiated mesenchymal cell states, whereas bridging zones of osteoid with surface osteoblasts and embedded osteocytic cells are interspersed between the lesions. In OSFD, the unossified zones eventually mineralize after replacement with normal osteoid and, finally, bone. This histologic progression corresponds with the clinical and radiographic resolution of the lesions (summary by Gray et al., 2015). Hunter and Jarvis (2002) noted that there may be a relationship between osteofibrous dysplasia and adamantinoma of long bones (102660), although the latter condition usually presents at a later age.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/895748">Condition Record</a></div></div>
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||
<div class="divPopper rprt" id="rdis_1636142"><div><strong>Cerebroretinal microangiopathy with calcifications and cysts 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1636142</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4552029</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">Dyskeratosis congenita and related telomere biology disorders (DC/TBD) are caused by impaired telomere maintenance resulting in short or very short telomeres. The phenotypic spectrum of telomere biology disorders is broad and includes individuals with classic dyskeratosis congenita (DC) as well as those with very short telomeres and an isolated physical finding. Classic DC is characterized by a triad of dysplastic nails, lacy reticular pigmentation of the upper chest and/or neck, and oral leukoplakia, although this may not be present in all individuals. People with DC/TBD are at increased risk for progressive bone marrow failure (BMF), myelodysplastic syndrome or acute myelogenous leukemia, solid tumors (usually squamous cell carcinoma of the head/neck or anogenital cancer), and pulmonary fibrosis. Other findings can include eye abnormalities (epiphora, blepharitis, sparse eyelashes, ectropion, entropion, trichiasis), taurodontism, liver disease, gastrointestinal telangiectasias, and avascular necrosis of the hips or shoulders. Although most persons with DC/TBD have normal psychomotor development and normal neurologic function, significant developmental delay is present in both forms; additional findings include cerebellar hypoplasia (Hoyeraal Hreidarsson syndrome) and bilateral exudative retinopathy and intracranial calcifications (Revesz syndrome and Coats plus syndrome). Onset and progression of manifestations of DC/TBD vary: at the mild end of the spectrum are those who have only minimal physical findings with normal bone marrow function, and at the severe end are those who have the diagnostic triad and early-onset BMF.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1636142">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_1648386"><div><strong>Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1648386</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4721893</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL) is characterized by fractures (resulting from radiologically demonstrable polycystic osseous lesions), frontal lobe syndrome, and progressive presenile dementia beginning in the fourth decade. The clinical course of PLOSL can be divided into four stages: 1.. The latent stage is characterized by normal early development. 2.. The osseous stage (3rd decade of life) is characterized by pain and tenderness, mostly in ankles and feet, usually following strain or injury. Fractures are typically diagnosed several years later, most commonly in the bones of the extremities. 3.. In the early neurologic stage (4th decade of life), a change of personality begins to develop insidiously. Affected individuals show a frontal lobe syndrome (loss of judgment, euphoria, loss of social inhibitions, disturbance of concentration, and lack of insight, libido, and motor persistence) leading to serious social issues. 4.. The late neurologic stage is characterized by progressive dementia and loss of mobility. Death usually occurs before age 50 years.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/1648386">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_1648374"><div><strong>Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1648374</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4748657</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy-2 (PLOSL2), or Nasu-Hakola disease, is a recessively inherited presenile frontal dementia with leukoencephalopathy and basal ganglia calcification. In most cases the disorder first manifests in early adulthood as pain and swelling in ankles and feet, followed by bone fractures. Neurologic symptoms manifest in the fourth decade of life as a frontal lobe syndrome with loss of judgment, euphoria, and disinhibition. Progressive decline in other cognitive domains begins to develop at about the same time. The disorder culminates in a profound dementia and death by age 50 years (summary by Klunemann et al., 2005). For a discussion of genetic heterogeneity of polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy, see 221770.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/1648374">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1803541"><div><strong>Stüve-Wiedemann syndrome 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1803541</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C5676888</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Stuve-Wiedemann syndrome is an autosomal recessive disorder characterized by bowing of the long bones and other skeletal anomalies, episodic hyperthermia, respiratory distress, and feeding difficulties usually resulting in early death (Dagoneau et al., 2004). See also 'classic' Schwartz-Jampel syndrome type 1 (SJS1; 255800), a phenotypically similar but genetically distinct disorder caused by mutation in the HSPG2 gene (142461) on chromosome 1p36. Genetic Heterogeneity of Stuve-Wiedemann Syndrome Stuve-Wiedemann syndrome-2 (STWS2; 619751) is caused by mutation in the IL6ST gene (600694) on chromosome 5q11.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/1803541">Condition Record</a></div></div>
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<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) Click for more information.">C5830487</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<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). For a general phenotypic description and discussion of genetic heterogeneity of autosomal recessive osteopetrosis, see OPTB1 (259700).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/1841123">Condition Record</a></div></div>
|
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<div class="divPopper rprt" id="rdis_1861084"><div><strong>Cutaneous porphyria</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1861084</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C5886774</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
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<div class="spaceAbove">Congenital erythropoietic porphyria (CEP) is characterized in most individuals by severe cutaneous photosensitivity with blistering and increased friability of the skin over light-exposed areas. Onset in most affected individuals occurs at birth or early infancy. The first manifestation is often pink-to-dark red discoloration of the urine. Hemolytic anemia is common and can range from mild to severe, with some affected individuals requiring chronic blood transfusions. Porphyrin deposition may lead to corneal ulcers and scarring, reddish-brown discoloration of the teeth (erythrodontia), and bone loss and/or expansion of the bone marrow. The phenotypic spectrum, however, is broad and ranges from nonimmune hydrops fetalis in utero to late-onset disease with only mild cutaneous manifestations in adulthood.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/1861084">Condition Record</a></div></div>
|
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<div class="divPopper rprt" id="rdis_963849"><div><strong>Autosomal dominant distal renal tubular acidosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>963849</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 that cannot be identified in NLM's Unified Medical Language system (UMLS) Click for more information.">CN280572</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Individuals with hereditary distal renal tubular acidosis (dRTA) typically present in infancy with failure to thrive, although later presentations can occur, especially in individuals with autosomal dominant SLC4A1-dRTA. Initial clinical manifestations can also include emesis, polyuria, polydipsia, constipation, diarrhea, decreased appetite, and episodes of dehydration. Electrolyte manifestations include hyperchloremic non-anion gap metabolic acidosis and hypokalemia. Renal complications of dRTA include nephrocalcinosis, nephrolithiasis, medullary cysts, and impaired renal function. Additional manifestations include bone demineralization (rickets, osteomalacia), growth deficiency, sensorineural hearing loss (in ATP6V0A4-, ATP6V1B1-, and FOXI1-dRTA), and hereditary hemolytic anemia (in some individuals with SLC4A1-dRTA).</div>
|
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<div class="spaceAbove nowrap">See: <a href="/medgen/963849">Condition Record</a></div></div>
|
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_120636" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Adult hypophosphatasia</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_78649" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Aspartylglucosaminuria</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_963849" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal dominant distal renal tubular acidosis</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_376708" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal recessive osteopetrosis 1</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_83401" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Blue rubber bleb nevus</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (28)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
|
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_382811" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Bone fragility with contractures, arterial rupture, and deafness</a></div>
|
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1636142" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cerebroretinal microangiopathy with calcifications and cysts 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1861084" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cutaneous porphyria</a></div>
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_350613" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Diaphyseal medullary stenosis-bone malignancy syndrome</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_96593" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Familial expansile osteolysis</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_409531" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Gaucher disease type I</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_182961" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hajdu-Cheney syndrome</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_82803" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Inborn glycerol kinase deficiency</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_18145" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Lowe syndrome</a></div>
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_7437" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Maffucci syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_69164" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">McCune-Albright syndrome</a></div>
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_120529" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Metaphyseal chondrodysplasia, Jansen type</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_481870" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Microcephaly, epilepsy, and diabetes syndrome</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_435914" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mucolipidosis type II</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_462796" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Nestor-Guillermo progeria syndrome</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_895748" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Osteofibrous dysplasia</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1841123" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Osteopetrosis, autosomal recessive 9</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_98480" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Osteoporosis with pseudoglioma</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1648386" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1648374" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2</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>
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_865814" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures</a></div>
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1803541" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Stüve-Wiedemann syndrome 1</a></div></span></div></div>
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</div>
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|
||
<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/29234845">EANM guideline for radionuclide therapy with radium-223 of metastatic castration-resistant prostate cancer.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Poeppel TD,
|
||
Handkiewicz-Junak D,
|
||
Andreeff M,
|
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Becherer A,
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Bockisch A,
|
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Fricke E,
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Geworski L,
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Heinzel A,
|
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Krause BJ,
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||
Krause T,
|
||
Mitterhauser M,
|
||
Sonnenschein W,
|
||
Bodei L,
|
||
Delgado-Bolton RC,
|
||
Gabriel M</span><br />
|
||
<span class="medgenPMjournal">Eur J Nucl Med Mol Imaging</span>
|
||
2018 May;45(5):824-845.
|
||
Epub 2017 Dec 12
|
||
doi: 10.1007/s00259-017-3900-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29234845" target="_blank">29234845</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16085630">Fibrous dysplasia. Pathophysiology, evaluation, and treatment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">DiCaprio MR,
|
||
Enneking WF</span><br />
|
||
<span class="medgenPMjournal">J Bone Joint Surg Am</span>
|
||
2005 Aug;87(8):1848-64.
|
||
doi: 10.2106/JBJS.D.02942.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16085630" target="_blank">16085630</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/14600612">Risk of pathologic fracture: assessment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Damron TA,
|
||
Ward WG</span><br />
|
||
<span class="medgenPMjournal">Clin Orthop Relat Res</span>
|
||
2003 Oct;(415 Suppl):S208-11.
|
||
doi: 10.1097/01.blo.0000093851.72468.1d.
|
||
<span class="bold">PMID: </span><a href="/pubmed/14600612" target="_blank">14600612</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22pathologic%20fracture%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 (110)</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/36990631">Radiation Therapy for Painful Bone Metastases: Fractionation, Recalcification, and Symptom Control.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tseng YD</span><br />
|
||
<span class="medgenPMjournal">Semin Radiat Oncol</span>
|
||
2023 Apr;33(2):139-147.
|
||
doi: 10.1016/j.semradonc.2022.11.004.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36990631" target="_blank">36990631</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34010236">Multifocal Xanthoma of Bone.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Schryver EM,
|
||
McCandless MG,
|
||
Al Hmada Y,
|
||
Barr JS</span><br />
|
||
<span class="medgenPMjournal">J Am Acad Orthop Surg Glob Res Rev</span>
|
||
2021 May 19;5(5):e20.00261-4.
|
||
doi: 10.5435/JAAOSGlobal-D-20-00261.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34010236" target="_blank">34010236</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25579825">Bone cysts: unicameral and aneurysmal bone cyst.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mascard E,
|
||
Gomez-Brouchet A,
|
||
Lambot K</span><br />
|
||
<span class="medgenPMjournal">Orthop Traumatol Surg Res</span>
|
||
2015 Feb;101(1 Suppl):S119-27.
|
||
Epub 2015 Jan 8
|
||
doi: 10.1016/j.otsr.2014.06.031.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25579825" target="_blank">25579825</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17062708">Clinical features of metastatic bone disease and risk of skeletal morbidity.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Coleman RE</span><br />
|
||
<span class="medgenPMjournal">Clin Cancer Res</span>
|
||
2006 Oct 15;12(20 Pt 2):6243s-6249s.
|
||
doi: 10.1158/1078-0432.CCR-06-0931.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17062708" target="_blank">17062708</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16085630">Fibrous dysplasia. Pathophysiology, evaluation, and treatment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">DiCaprio MR,
|
||
Enneking WF</span><br />
|
||
<span class="medgenPMjournal">J Bone Joint Surg Am</span>
|
||
2005 Aug;87(8):1848-64.
|
||
doi: 10.2106/JBJS.D.02942.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16085630" target="_blank">16085630</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Pathologic%20fracture%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 (664)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35688398">ESTRO ACROP guidelines for external beam radiotherapy of patients with complicated bone metastases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Oldenburger E,
|
||
Brown S,
|
||
Willmann J,
|
||
van der Velden JM,
|
||
Spałek M,
|
||
van der Linden YM,
|
||
Kazmierska J,
|
||
Menten J,
|
||
Andratschke N,
|
||
Hoskin P</span><br />
|
||
<span class="medgenPMjournal">Radiother Oncol</span>
|
||
2022 Aug;173:240-253.
|
||
Epub 2022 Jun 7
|
||
doi: 10.1016/j.radonc.2022.06.002.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35688398" target="_blank">35688398</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34010236">Multifocal Xanthoma of Bone.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Schryver EM,
|
||
McCandless MG,
|
||
Al Hmada Y,
|
||
Barr JS</span><br />
|
||
<span class="medgenPMjournal">J Am Acad Orthop Surg Glob Res Rev</span>
|
||
2021 May 19;5(5):e20.00261-4.
|
||
doi: 10.5435/JAAOSGlobal-D-20-00261.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34010236" target="_blank">34010236</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25579825">Bone cysts: unicameral and aneurysmal bone cyst.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mascard E,
|
||
Gomez-Brouchet A,
|
||
Lambot K</span><br />
|
||
<span class="medgenPMjournal">Orthop Traumatol Surg Res</span>
|
||
2015 Feb;101(1 Suppl):S119-27.
|
||
Epub 2015 Jan 8
|
||
doi: 10.1016/j.otsr.2014.06.031.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25579825" target="_blank">25579825</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16085630">Fibrous dysplasia. Pathophysiology, evaluation, and treatment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">DiCaprio MR,
|
||
Enneking WF</span><br />
|
||
<span class="medgenPMjournal">J Bone Joint Surg Am</span>
|
||
2005 Aug;87(8):1848-64.
|
||
doi: 10.2106/JBJS.D.02942.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16085630" target="_blank">16085630</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/3757360">Skeletal metastases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Galasko CS</span><br />
|
||
<span class="medgenPMjournal">Clin Orthop Relat Res</span>
|
||
1986 Sep;(210):18-30.
|
||
<span class="bold">PMID: </span><a href="/pubmed/3757360" target="_blank">3757360</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Pathologic%20fracture%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 (565)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37904346">Causal association of metformin and osteoporosis: A 2-sample Mendelian randomization study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wei YK,
|
||
Chen PB,
|
||
Ju LL,
|
||
Deng GH</span><br />
|
||
<span class="medgenPMjournal">Medicine (Baltimore)</span>
|
||
2023 Oct 27;102(43):e35191.
|
||
doi: 10.1097/MD.0000000000035191.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37904346" target="_blank">37904346</a><a href="/pmc/articles/PMC10615397" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25166424">Pathologic fracture in patients with metastatic prostate cancer.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gartrell BA,
|
||
Saad F</span><br />
|
||
<span class="medgenPMjournal">Curr Opin Urol</span>
|
||
2014 Nov;24(6):595-600.
|
||
doi: 10.1097/MOU.0000000000000105.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25166424" target="_blank">25166424</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24267212">The practicing orthopedic surgeon's guide to managing long bone metastases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cheung FH</span><br />
|
||
<span class="medgenPMjournal">Orthop Clin North Am</span>
|
||
2014 Jan;45(1):109-19.
|
||
Epub 2013 Oct 31
|
||
doi: 10.1016/j.ocl.2013.09.003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24267212" target="_blank">24267212</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17062708">Clinical features of metastatic bone disease and risk of skeletal morbidity.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Coleman RE</span><br />
|
||
<span class="medgenPMjournal">Clin Cancer Res</span>
|
||
2006 Oct 15;12(20 Pt 2):6243s-6249s.
|
||
doi: 10.1158/1078-0432.CCR-06-0931.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17062708" target="_blank">17062708</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16085630">Fibrous dysplasia. Pathophysiology, evaluation, and treatment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">DiCaprio MR,
|
||
Enneking WF</span><br />
|
||
<span class="medgenPMjournal">J Bone Joint Surg Am</span>
|
||
2005 Aug;87(8):1848-64.
|
||
doi: 10.2106/JBJS.D.02942.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16085630" target="_blank">16085630</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Pathologic%20fracture%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 (389)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/25579825">Bone cysts: unicameral and aneurysmal bone cyst.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mascard E,
|
||
Gomez-Brouchet A,
|
||
Lambot K</span><br />
|
||
<span class="medgenPMjournal">Orthop Traumatol Surg Res</span>
|
||
2015 Feb;101(1 Suppl):S119-27.
|
||
Epub 2015 Jan 8
|
||
doi: 10.1016/j.otsr.2014.06.031.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25579825" target="_blank">25579825</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23629998">Telangiectatic osteosarcoma.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Colomina J,
|
||
Peiro A,
|
||
Trullols L,
|
||
Garcia I</span><br />
|
||
<span class="medgenPMjournal">J Orthop Surg (Hong Kong)</span>
|
||
2013 Apr;21(1):96-9.
|
||
doi: 10.1177/230949901302100124.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23629998" target="_blank">23629998</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17062708">Clinical features of metastatic bone disease and risk of skeletal morbidity.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Coleman RE</span><br />
|
||
<span class="medgenPMjournal">Clin Cancer Res</span>
|
||
2006 Oct 15;12(20 Pt 2):6243s-6249s.
|
||
doi: 10.1158/1078-0432.CCR-06-0931.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17062708" target="_blank">17062708</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17004531">Unicameral (simple) bone cysts.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Baig R,
|
||
Eady JL</span><br />
|
||
<span class="medgenPMjournal">South Med J</span>
|
||
2006 Sep;99(9):966-76.
|
||
doi: 10.1097/01.smj.0000235498.40200.36.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17004531" target="_blank">17004531</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10951110">Unicameral bone cysts.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wilkins RM</span><br />
|
||
<span class="medgenPMjournal">J Am Acad Orthop Surg</span>
|
||
2000 Jul-Aug;8(4):217-24.
|
||
doi: 10.5435/00124635-200007000-00002.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10951110" target="_blank">10951110</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Pathologic%20fracture%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 (441)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/29380146">Pseudomalignant osteoblastoma of the odontoid process.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fernandes P,
|
||
do Brito JS,
|
||
Costa A,
|
||
Monteiro J</span><br />
|
||
<span class="medgenPMjournal">Eur Spine J</span>
|
||
2018 Jul;27(Suppl 3):477-482.
|
||
Epub 2018 Jan 29
|
||
doi: 10.1007/s00586-018-5500-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29380146" target="_blank">29380146</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24238380">Ablation of musculoskeletal metastases: pain palliation, fracture risk reduction, and oligometastatic disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kurup AN,
|
||
Callstrom MR</span><br />
|
||
<span class="medgenPMjournal">Tech Vasc Interv Radiol</span>
|
||
2013 Dec;16(4):253-61.
|
||
doi: 10.1053/j.tvir.2013.08.007.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24238380" target="_blank">24238380</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17062708">Clinical features of metastatic bone disease and risk of skeletal morbidity.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Coleman RE</span><br />
|
||
<span class="medgenPMjournal">Clin Cancer Res</span>
|
||
2006 Oct 15;12(20 Pt 2):6243s-6249s.
|
||
doi: 10.1158/1078-0432.CCR-06-0931.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17062708" target="_blank">17062708</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17004531">Unicameral (simple) bone cysts.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Baig R,
|
||
Eady JL</span><br />
|
||
<span class="medgenPMjournal">South Med J</span>
|
||
2006 Sep;99(9):966-76.
|
||
doi: 10.1097/01.smj.0000235498.40200.36.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17004531" target="_blank">17004531</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16085630">Fibrous dysplasia. Pathophysiology, evaluation, and treatment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">DiCaprio MR,
|
||
Enneking WF</span><br />
|
||
<span class="medgenPMjournal">J Bone Joint Surg Am</span>
|
||
2005 Aug;87(8):1848-64.
|
||
doi: 10.2106/JBJS.D.02942.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16085630" target="_blank">16085630</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Pathologic%20fracture%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 (354)</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_104">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln">
|
||
<div class="nl"><a target="_blank" href="/pubmed/38376586">Photodynamic bone stabilization for traumatic and pathologic fractures: a systematic review of utilization, complications, and patient-reported outcomes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zhu KY,
|
||
McNassor R,
|
||
Hecht Ii CJ,
|
||
Burkhart RJ,
|
||
Nystrom LM,
|
||
Kamath AF</span><br />
|
||
<span class="medgenPMjournal">Eur J Orthop Surg Traumatol</span>
|
||
2024 Apr;34(3):1269-1277.
|
||
Epub 2024 Feb 20
|
||
doi: 10.1007/s00590-024-03833-w.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38376586" target="_blank">38376586</a><a href="/pmc/articles/PMC10980623" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37184541">Are Pathologic Fractures in Patients With Osteosarcoma Associated With Worse Survival Outcomes? A Systematic Review and Meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gonzalez MR,
|
||
Bedi A,
|
||
Karczewski D,
|
||
Lozano-Calderon SA</span><br />
|
||
<span class="medgenPMjournal">Clin Orthop Relat Res</span>
|
||
2023 Dec 1;481(12):2433-2443.
|
||
Epub 2023 May 12
|
||
doi: 10.1097/CORR.0000000000002687.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37184541" target="_blank">37184541</a><a href="/pmc/articles/PMC10642876" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34270093">Thromboembolic complications after surgical fixation of bone metastases: A systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">You DZ,
|
||
Krzyzaniak H,
|
||
Viner B,
|
||
Yamaura L,
|
||
Kendal JK,
|
||
Monument MJ,
|
||
Schneider PS</span><br />
|
||
<span class="medgenPMjournal">J Surg Oncol</span>
|
||
2021 Dec;124(7):1182-1191.
|
||
Epub 2021 Jul 16
|
||
doi: 10.1002/jso.26601.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34270093" target="_blank">34270093</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30232017">Treatment Modalities for Pathologic Fractures of the Proximal Femur Pertrochanteric Region: A Systematic Review and Meta-Analysis of Reoperation Rates.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Putnam DS,
|
||
Philipp TC,
|
||
Lam PW,
|
||
Gundle KR</span><br />
|
||
<span class="medgenPMjournal">J Arthroplasty</span>
|
||
2018 Oct;33(10):3354-3361.
|
||
Epub 2018 Jun 14
|
||
doi: 10.1016/j.arth.2018.06.012.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30232017" target="_blank">30232017</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25231396">Prognostic value of pathologic fracture in patients with high grade localized osteosarcoma: a systemic review and meta-analysis of cohort studies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sun L,
|
||
Li Y,
|
||
Zhang J,
|
||
Li H,
|
||
Li B,
|
||
Ye Z</span><br />
|
||
<span class="medgenPMjournal">J Orthop Res</span>
|
||
2015 Jan;33(1):131-9.
|
||
Epub 2014 Sep 18
|
||
doi: 10.1002/jor.22734.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25231396" target="_blank">25231396</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Pathologic%20fracture%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 (12)</a></div></div>
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<h2 class="offscreen_noflow">Supplemental Content</h2>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C0016663%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (2)</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=(%22pathologic%20fracture%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(%22Pathologic%20fracture%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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