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<!--
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||
UID=154257
|
||
ConceptID=C0544755
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Genu varum</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>154257</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.">C0544755</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding; Finding</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>Bow Leg; Bow Legs; Genu Varum; Genu Varus; Leg, Bow; Legs, Bow</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Knee joint varus deformity (299331007); Bow legs (299331007); Bandy legged (299331007); Bow legged (299331007); Genu varus (299331007)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>HPO:</td>
|
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<td><a target="_blank" title="Human Phenotype Ontology" href="https://hpo.jax.org/app/browse/term/HP:0002970">HP:0002970</a></td></tr>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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||
<div class="portlet_content ln">A positional abnormality marked by outward bowing of the legs in which the knees stay wide apart when a person stands with the feet and ankles together. [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=C0544755[DISCUI]&test_type=Clinical" ref="ncbi_uid=154257">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=154257" ref="ncbi_uid=154257">V</a></span></span><span class="TLline">Genu varum</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/536898" ref="tree=MeSH" title="MedGen record for Abnormality of limbs">Abnormality of limbs</a></span><ul><li><span class="TLline"><a href="/medgen/242750" ref="tree=MeSH" title="MedGen record for Abnormality of the lower limb">Abnormality of the lower limb</a></span><ul><li><span class="TLline"><a href="/medgen/866624" ref="tree=MeSH" title="MedGen record for Abnormality of lower limb joint">Abnormality of lower limb joint</a></span><ul><li><span class="TLline"><a href="/medgen/871199" ref="tree=MeSH" title="MedGen record for Abnormality of the knee">Abnormality of the knee</a></span><ul><li><span class="TLline"><a href="/medgen/1841978" ref="tree=MeSH" title="MedGen record for Abnormal knee morphology">Abnormal knee morphology</a></span><ul><li><span class="matched_ds">Genu varum</span><ul><li><span class="TLline"><a href="/medgen/867641" ref="tree=MeSH" title="MedGen record for Wind-swept deformity of the knees">Wind-swept deformity of the knees</a></span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
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<div class="portlet mgSection" id="ID_112">
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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_1289"><div><strong>Achondroplasia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1289</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.">C0001080</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Achondroplasia is the most common cause of disproportionate short stature. Affected individuals have rhizomelic shortening of the limbs, macrocephaly, and characteristic facial features with frontal bossing and midface retrusion. In infancy, hypotonia is typical, and acquisition of developmental motor milestones is often both aberrant in pattern and delayed. Intelligence and life span are usually near normal, although craniocervical junction compression increases the risk of death in infancy. Additional complications include obstructive sleep apnea, middle ear dysfunction, kyphosis, and spinal stenosis.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1289">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_61235"><div><strong>Radial aplasia-thrombocytopenia syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>61235</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.">C0175703</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Thrombocytopenia absent radius (TAR) syndrome is characterized by bilateral absence of the radii with the presence of both thumbs, and thrombocytopenia that is generally transient. Thrombocytopenia may be congenital or may develop within the first few weeks to months of life; in general, thrombocytopenic episodes decrease with age. Cow's milk allergy is common and can be associated with exacerbation of thrombocytopenia. Other anomalies of the skeleton (upper and lower limbs, ribs, and vertebrae), heart, and genitourinary system (renal anomalies and agenesis of uterus, cervix, and upper part of the vagina) can occur.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/61235">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_65091"><div><strong>Blount disease, infantile</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>65091</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.">C0220757</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Blount disease is a developmental condition characterized by disordered endochondral ossification of the medial part of the proximal tibial physis resulting in multiplanar deformities of the lower limb (review by Sabharwal, 2009).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/65091">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_75559"><div><strong>Kniest dysplasia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>75559</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.">C0265279</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Kniest dysplasia is characterized by skeletal and craniofacial anomalies. Skeletal anomalies include disproportionate dwarfism, a short trunk and small pelvis, kyphoscoliosis, short limbs, and prominent joints and premature osteoarthritis that restrict movement. Craniofacial manifestations include midface hypoplasia, cleft palate, early-onset myopia, retinal detachment, and hearing loss. The phenotype is severe in some patients and mild in others. There are distinct radiographic changes including coronal clefts of vertebrae and dumbbell-shaped femora. The chondrooseous morphology is pathognomonic with perilacunar 'foaminess' and sparse, aggregated collagen fibrils resulting in an interterritorial matrix with a 'Swiss-cheese' appearance (summary by Wilkin et al., 1999).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/75559">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_120527"><div><strong>Dyggve-Melchior-Clausen syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>120527</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.">C0265286</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Dyggve-Melchior-Clausen disease (DMC) is an autosomal recessive disorder characterized by progressive spondyloepimetaphyseal dysplasia and impaired intellectual development. Short-trunk dwarfism and microcephaly are present, and specific radiologic appearances most likely reflect abnormalities of the growth plates, including platyspondyly with notched end plates, metaphyseal irregularities, laterally displaced capital femoral epiphyses, and small iliac wings with lacy iliac crests (summary by El Ghouzzi et al., 2003).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/120527">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_78550"><div><strong>Metaphyseal chondrodysplasia, Schmid type</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>78550</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.">C0265289</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Schmid metaphyseal chondrodysplasia (SMCD) is characterized by progressive short stature that develops by age two years. The clinical and radiographic features are usually not present at birth, but manifest in early childhood with short limbs, genu varum, and waddling gait. Facial features and head size are normal. Radiographs show metaphyseal irregularities of the long bones (e.g., splaying, flaring, cupping); shortening of the tubular bones; widened growth plates; coxa vara; and anterior cupping, sclerosis, and splaying of the ribs. Mild hand involvement often includes shortening of the tubular bones and metaphyseal cupping of the metacarpals and proximal phalanges. Platyspondyly and vertebral end plate irregularities are less common. Hand and vertebral involvement can resolve with age. Early motor milestones may be delayed due to orthopedic complications. Intelligence is normal. Joint pain in the knees and hips is common and may limit physical activity. Adult height is typically more than 3.5 standard deviations below the mean, although a wide spectrum that overlaps normal height has been reported. There are no extraskeletal manifestations.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/78550">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_140806"><div><strong>Neonatal pseudo-hydrocephalic progeroid syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>140806</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.">C0406586</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Wiedemann-Rautenstrauch syndrome (WDRTS) is a rare autosomal recessive neonatal progeroid disorder characterized by intrauterine growth retardation, failure to thrive, short stature, a progeroid appearance, hypotonia, and variable mental impairment (summary by Toriello, 1990). Average survival in WDRTS is 7 months, although survival into the third decade of life has been reported (Akawi et al., 2013).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/140806">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_98376"><div><strong>Hypochondroplasia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>98376</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.">C0410529</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hypochondroplasia is a skeletal dysplasia characterized by short stature; stocky build; disproportionately short arms and legs; broad, short hands and feet; mild joint laxity; and macrocephaly. Radiologic features include shortening of long bones with mild metaphyseal flare; narrowing of the inferior lumbar interpedicular distances; short, broad femoral neck; and squared, shortened ilia. The skeletal features are very similar to those seen in achondroplasia but tend to be milder. Medical complications common to achondroplasia (e.g., spinal stenosis, tibial bowing, obstructive apnea) occur less frequently in hypochondroplasia but intellectual disability and epilepsy may be more prevalent. Children usually present as toddlers or at early school age with decreased growth velocity leading to short stature and limb disproportion. Other features also become more prominent over time.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/98376">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_98378"><div><strong>Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>98378</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.">C0410538</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">COMP-related pseudoachondroplasia (COMP-PSACH) is characterized by normal length at birth and normal facies. Often the presenting feature is a waddling gait, recognized at the onset of walking. Typically, the growth rate falls below the standard growth curve by approximately age two years, leading to a moderately severe form of disproportionate short-limb short stature. Joint pain during childhood, particularly in the large joints of the lower extremities, is common. Degenerative joint disease is progressive; approximately 50% of individuals with COMP-PSACH eventually require hip replacement surgery.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/98378">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_96581"><div><strong>Progressive pseudorheumatoid dysplasia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>96581</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.">C0432215</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Progressive pseudorheumatoid dysplasia (PPD) is a skeletal dysplasia characterized by predominant involvement of articular cartilage with progressive joint stiffness and enlargement in the absence of inflammation. Onset – typically between ages three and six years – begins with the involvement of the interphalangeal joints. Over time, involvement of large joints and the spine causes significant joint contractures, gait disturbance, and scoliosis and/or kyphosis, resulting in abnormal posture and significant morbidity. Despite the considerable arthropathy, pain is not a major presenting feature of this condition. Initially height is normal; however, short stature (<3rd centile) becomes evident in adolescence as the skeletal changes progress.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/96581">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_98146"><div><strong>Spondylometaphyseal dysplasia - Sutcliffe type</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>98146</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.">C0432221</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Spondylometaphyseal dysplasia, corner fracture type (SMDCF) is a skeletal dysplasia characterized by short stature and a waddling gait in early childhood. Short stature may be present at birth or develop in early infancy. Individuals may present with short limbs and/or short trunk. Radiographic features include enlargement and corner fracture-like lesions of the metaphyses, developmental coxa vara, shortened long bones, scoliosis, and vertebral anomalies. Limited joint mobility and chronic pain are common. Vision impairment and glaucoma have been reported.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/98146">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_266247"><div><strong>Sponastrime dysplasia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>266247</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.">C1300260</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Sponastrime dysplasia is an autosomal recessive spondyloepimetaphyseal dysplasia (SEMD) named for characteristic clinical and radiographic findings, including spine (spondylar) abnormalities, midface hypoplasia with a depressed nasal bridge, and striation of the metaphyses. Additional features include disproportionate short stature with exaggerated lumbar lordosis, scoliosis, coxa vara, limited elbow extension, small dysplastic epiphyses, childhood cataracts, short dental roots, and hypogammaglobulinemia. Radiographically, the abnormalities of the lumbar vertebral bodies are suggested to be the most specific finding because the characteristic metaphyseal striations may not be apparent at young ages. Striking clinical variability in presentation, severity, and associated features has been observed (summary by Burrage et al., 2019).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/266247">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_320444"><div><strong>Metaphyseal dysplasia without hypotrichosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>320444</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.">C1834821</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The cartilage-hair hypoplasia – anauxetic dysplasia (CHH-AD) spectrum disorders are a continuum that includes the following phenotypes: Metaphyseal dysplasia without hypotrichosis (MDWH). Cartilage-hair hypoplasia (CHH). Anauxetic dysplasia (AD). CHH-AD spectrum disorders are characterized by severe disproportionate (short-limb) short stature that is usually recognized in the newborn, and occasionally prenatally because of the short extremities. Other findings include joint hypermobility, fine, silky hair, immunodeficiency, anemia, increased risk for malignancy, gastrointestinal dysfunction, and impaired spermatogenesis. The most severe phenotype, AD, has the most pronounced skeletal phenotype, may be associated with atlantoaxial subluxation in the newborn, and may include cognitive deficiency. The clinical manifestations of the CHH-AD spectrum disorders are variable, even within the same family.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/320444">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_373126"><div><strong>Spondyloepiphyseal dysplasia tarda, autosomal recessive, Leroy-Spranger type</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>373126</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.">C1836584</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/373126">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_333092"><div><strong>Epiphyseal dysplasia, multiple, 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>333092</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.">C1838429</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Autosomal dominant multiple epiphyseal dysplasia (MED) presents in early childhood, usually with pain in the hips and/or knees after exercise. Affected children report fatigue with long-distance walking. Waddling gait may be present. Adult height is either in the lower range of normal or mildly shortened. The limbs are relatively short in comparison to the trunk. Pain and joint deformity progress, resulting in early-onset osteoarthritis, particularly of the large weight-bearing joints.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/333092">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_330777"><div><strong>Spondyloepiphyseal dysplasia, Kimberley type</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>330777</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.">C1842149</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Kimberley-type spondyloepiphyseal dysplasia (SEDK) is a mild autosomal dominant SED with a phenotype of short stature, stocky build, and early-onset osteoarthritis of the weight-bearing joints (summary by Gleghorn et al., 2005).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/330777">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_334681"><div><strong>Acrocapitofemoral dysplasia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>334681</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.">C1843096</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Acrocapitofemoral dysplasia (ACFD) is an autosomal recessive skeletal dysplasia characterized by postnatal-onset disproportionate short stature, relatively large head, narrow thorax, lumbar lordosis, short limbs, and brachydactyly with small broad nails (Ozyavuz Cubuk and Duz, 2021).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/334681">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_376281"><div><strong>X-linked spondyloepimetaphyseal dysplasia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>376281</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.">C1848097</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">X-linked spondyloepimetaphyseal dysplasia (SEMDX) is characterized by anomalies of the spine and the epiphyses and metaphyses of the long bones, resulting in short stature and osteoarthritic changes of the joints. Patients with SEMDX show rhizomelic shortening of the limbs and short limb-to-trunk ratio, significant bowing of the legs, waddling gait with lumbar lordosis, and brachydactyly (Cho et al., 2016).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/376281">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_344437"><div><strong>Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>344437</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.">C1855175</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome is characterised by metaphyseal dysplasia, short-limb dwarfism, mild intellectual deficit and conductive hearing loss, associated with repeated episodes of otitis media in childhood. It has been described in three brothers born to consanguineous Sicilian parents. Variable manifestations included hyperopia and strabismus. The mode of inheritance is autosomal recessive.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/344437">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_346929"><div><strong>Microcephaly 2, primary, autosomal recessive, with or without cortical malformations</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>346929</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.">C1858535</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">In WDR62 primary microcephaly (WDR62-MCPH), microcephaly (occipitofrontal circumference [OFC] =2 standard deviations below the mean) is usually present at birth, but in some instances becomes evident later in the first year of life. Growth is otherwise normal. Except for brain malformations in most affected individuals, no other congenital malformations are observed. Central nervous system involvement can include delayed motor development, mild-to-severe intellectual disability (ID), behavior problems, epilepsy, spasticity, and ataxia.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/346929">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_350960"><div><strong>Spondyloepimetaphyseal dysplasia with multiple dislocations</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>350960</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.">C1863732</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Spondyloepimetaphyseal dysplasia with joint laxity type 2 (SEMDJL2) is characterized by short stature, distinctive midface retrusion, progressive knee malalignment (genu valgum and/or varum), generalized ligamentous laxity, and mild spinal deformity. Intellectual development is not impaired. Radiographic characteristics include significantly retarded epiphyseal ossification that evolves into epiphyseal dysplasia and precocious osteoarthritis, metaphyseal irregularities and vertical striations, constricted femoral neck, slender metacarpals and metatarsals, and mild thoracolumbar kyphosis or scoliosis with normal or mild platyspondyly (summary by Min et al., 2011). For a discussion of genetic heterogeneity of SEMD with joint laxity, see SEMDJL1 (271640).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/350960">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_400703"><div><strong>Spondyloepimetaphyseal dysplasia, Shohat type</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>400703</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.">C1865185</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Shohat-type spondyloepimetaphyseal dysplasia (SEMDSH) is a chondrodysplasia characterized by vertebral, epiphyseal, and metaphyseal abnormalities, including scoliosis with vertebral compression fractures, flattened vertebral bodies, and hypomineralization of long bones. Affected individuals may exhibit a small trunk, short neck, small limbs, joint laxity, bowlegs, and/or abdominal distention with hepatosplenomegaly (summary by Egunsola et al., 2017).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/400703">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_355563"><div><strong>Spondyloepimetaphyseal dysplasia, Missouri type</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>355563</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.">C1865832</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Disorder with manifestations of moderate-to-severe metaphyseal changes, mild epiphyseal involvement, rhizomelic shortening of the lower limbs with bowing of the femora and/or tibiae, coxa vara, genu varum and pear-shaped vertebrae in childhood. The syndrome has been described in a large Missouri (US) kindred with 14 affected members in 4 generations. Though some spontaneous improvement of the skeletal defects may occur in adolescence, the affected individuals remained shorter than their age-matched unaffected siblings. Predisposition deformities to osteoarthritis have been noted. This condition is caused by mutation in the MMP13 gene (locus 11q22.3) and transmitted in an autosomal dominant manner.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/355563">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_411667"><div><strong>Vitamin D-dependent rickets, type 2B</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>411667</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.">C2748783</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Vitamin D-dependent rickets type 2B with normal vitamin D receptor (VDDR2B) is an unusual form of rickets due to abnormal expression of a hormone response element-binding protein that interferes with the normal function of the vitamin D receptor. Vitamin D-dependent rickets type 2A (VDDR2A) is caused by mutation in the vitamin D receptor gene (VDR; 601769), and most patients have alopecia in addition to rickets. For a general phenotypic description and a discussion of genetic heterogeneity of rickets due to disorders in vitamin D metabolism or action, see vitamin D-dependent rickets type 1A (VDDR1A; 264700).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/411667">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_412869"><div><strong>Spondylo-megaepiphyseal-metaphyseal dysplasia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>412869</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.">C2750066</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Spondylo-megaepiphyseal-metaphyseal dysplasia is a rare autosomal recessive skeletal dysplasia characterized by disproportionate short stature with a short and stiff neck and trunk; relatively long limbs that may show flexion contractures of the distal joints; delayed and impaired ossification of the vertebral bodies and the presence of large epiphyseal ossification centers and wide growth plates in the long tubular bones; and numerous pseudoepiphyses of the short tubular bones in hands and feet (summary by Hellemans et al., 2009).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/412869">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_442380"><div><strong>Hypophosphatemic rickets, autosomal recessive, 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>442380</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.">C2750078</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Another rare type of the disorder is known as hereditary hypophosphatemic rickets with hypercalciuria (HHRH). In addition to hypophosphatemia, this condition is characterized by the excretion of high levels of calcium in the urine (hypercalciuria).\n\nResearchers have described several forms of hereditary hypophosphatemic rickets, which are distinguished by their pattern of inheritance and genetic cause. The most common form of the disorder is known as X-linked hypophosphatemic rickets (XLH). It has an X-linked dominant pattern of inheritance. X-linked recessive, autosomal dominant, and autosomal recessive forms of the disorder are much rarer.\n\nOther signs and symptoms of hereditary hypophosphatemic rickets can include premature fusion of the skull bones (craniosynostosis) and dental abnormalities. The disorder may also cause abnormal bone growth where ligaments and tendons attach to joints (enthesopathy). In adults, hypophosphatemia is characterized by a softening of the bones known as osteomalacia.\n\nIn most cases, the signs and symptoms of hereditary hypophosphatemic rickets begin in early childhood. The features of the disorder vary widely, even among affected members of the same family. Mildly affected individuals may have hypophosphatemia without other signs and symptoms. More severely affected children experience slow growth and are shorter than their peers. They develop bone abnormalities that can interfere with movement and cause bone pain. The most noticeable of these abnormalities are bowed legs or knock knees. These abnormalities become apparent with weight-bearing activities such as walking. If untreated, they tend to worsen with time.\n\nHereditary hypophosphatemic rickets is a disorder related to low levels of phosphate in the blood (hypophosphatemia). Phosphate is a mineral that is essential for the normal formation of bones and teeth.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/442380">Condition Record</a></div></div>
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||
<div class="divPopper rprt" id="rdis_414350"><div><strong>Metaphyseal anadysplasia 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>414350</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.">C2751322</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Metaphyseal anadysplasia-2 (MANDP2) is a very rare skeletal dysplasia with onset in the second or third year of life of mild rhizomelic micromelia and varus deformity of lower extremities. The disorder appears to resolve without intervention during adolescence (summary by Bonilla-Fornes et al., 2021). For a general phenotypic description and a discussion of genetic heterogeneity of metaphyseal anadysplasia, see MANDP1 (602111).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/414350">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_462463"><div><strong>Meier-Gorlin syndrome 3</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>462463</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C3151113</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Abnormalities in sexual development may also occur in Meier-Gorlin syndrome. In some males with this condition, the testes are small or undescended (cryptorchidism). Affected females may have unusually small external genital folds (hypoplasia of the labia majora) and small breasts. Both males and females with this condition can have sparse or absent underarm (axillary) hair.\n\nMeier-Gorlin syndrome is a condition primarily characterized by short stature. It is considered a form of primordial dwarfism because the growth problems begin before birth (intrauterine growth retardation). After birth, affected individuals continue to grow at a slow rate. Other characteristic features of this condition are underdeveloped or missing kneecaps (patellae), small ears, and, often, an abnormally small head (microcephaly). Despite a small head size, most people with Meier-Gorlin syndrome have normal intellect.\n\nSome people with Meier-Gorlin syndrome have other skeletal abnormalities, such as unusually narrow long bones in the arms and legs, a deformity of the knee joint that allows the knee to bend backwards (genu recurvatum), and slowed mineralization of bones (delayed bone age).\n\nMost people with Meier-Gorlin syndrome have distinctive facial features. In addition to being abnormally small, the ears may be low-set or rotated backward. Additional features can include a small mouth (microstomia), an underdeveloped lower jaw (micrognathia), full lips, and a narrow nose with a high nasal bridge.\n\nAdditional features of Meier-Gorlin syndrome can include difficulty feeding and a lung condition known as pulmonary emphysema or other breathing problems.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/462463">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_462922"><div><strong>Blount disease, adolescent</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>462922</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.">C3151572</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Blount disease is a developmental condition characterized by disordered endochondral ossification of the medial part of the proximal tibial physis resulting in multiplanar deformities of the lower limb (review by Sabharwal, 2009).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/462922">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_854757"><div><strong>Smith-McCort dysplasia 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>854757</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.">C3888088</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Any Smith-McCort dysplasia in which the cause of the disease is a mutation in the DYM gene.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/854757">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_860583"><div><strong>Desbuquois dysplasia 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>860583</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.">C4012146</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Desbuquois dysplasia (DBQD) is an autosomal recessive chondrodysplasia belonging to the multiple dislocation group and characterized by severe prenatal and postnatal growth retardation (stature less than -5 SD), joint laxity, short extremities, and progressive scoliosis. The main radiologic features are short long bones with metaphyseal splay, a 'Swedish key' appearance of the proximal femur (exaggerated trochanter), and advanced carpal and tarsal bone age with a delta phalanx (summary by Huber et al., 2009). Desbuquois dysplasia is clinically and radiographically heterogeneous, and had been classified into 2 types based on the presence (type 1) or absence (type 2) of characteristic hand anomalies, including an extra ossification center distal to the second metacarpal, delta phalanx, bifid distal thumb phalanx, and dislocation of the interphalangeal joints (Faivre et al., 2004). However, patients with and without these additional hand anomalies have been reported to have mutations in the same gene (see, e.g., CANT1); thus, these features are not distinctive criteria to predict the molecular basis of DBQD (Furuichi et al., 2011). In addition, Kim et al. (2010) described another milder variant of DBQD with almost normal outwardly appearing hands, but significant radiographic changes, including short metacarpals, elongated phalanges, and remarkably advanced carpal bone age. However, there is no accessory ossification center distal to the second metacarpal, and patients do not have thumb anomalies. Similar changes occur in the feet. These patients also tend to develop precocious osteoarthritis of the hand and spine with age. This phenotype is sometimes referred to as the 'Kim variant' of DBQD (Furuichi et al., 2011). Genetic Heterogeneity of Desbuquois Dysplasia DBQD2 (615777) is caused by mutation in the XYLT1 gene (608124) on chromosome 16p12. Two unrelated patients with immunodeficiency-23 (IMD23; 615816), due to mutation in the PGM3 gene (172100), were reported to have skeletal features reminiscent of DBQD.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/860583">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_862731"><div><strong>Desbuquois dysplasia 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>862731</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.">C4014294</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Desbuquois dysplasia, which belongs to the multiple dislocation group of disorders, is characterized by dislocations of large joints, severe pre- and postnatal growth retardation, joint laxity, and flat face with prominent eyes. Radiologic features include short long bones with an exaggerated trochanter that gives a 'monkey wrench' appearance to the proximal femur, and advanced carpal and tarsal ossification (summary by Bui et al., 2014). For a discussion of genetic heterogeneity of Desbuquois dysplasia, see DBQD1 (251450).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/862731">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_903767"><div><strong>Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>903767</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.">C4225396</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Arboleda-Tham syndrome (ARTHS) is an autosomal dominant disorder with the core features of impaired intellectual development, speech delay, microcephaly, cardiac anomalies, and gastrointestinal complications (summary by Kennedy et al., 2019).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/903767">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1382152"><div><strong>Craniometadiaphyseal dysplasia wormian bone type</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1382152</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.">C4510809</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Craniometadiaphyseal dysplasia (CRMDD) is characterized clinically by macrocephaly with frontal prominence, dental hypoplasia, and increased bone fragility. Diagnostic radiologic features include thin bones in the superior part of calvaria with prominent wormian bones, diaphyseal widening of the long tubular bones in early childhood with wide undermineralized metaphyses in older individuals, widened ribs and clavicles, and broadening of short tubular bones with increased transparency and thin cortices (summary by Dhar et al., 2010).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1382152">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1620874"><div><strong>Epiphyseal dysplasia, multiple, 7</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1620874</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.">C4540251</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1620874">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1644017"><div><strong>RAB23-related Carpenter syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1644017</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.">C4551510</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Any Carpenter syndrome in which the cause of the disease is a mutation in the RAB23 gene.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1644017">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1641240"><div><strong>Meier-Gorlin syndrome 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1641240</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4552001</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The Meier-Gorlin syndrome is a rare disorder characterized by severe intrauterine and postnatal growth retardation, microcephaly, bilateral microtia, and aplasia or hypoplasia of the patellae (summary by Shalev and Hall, 2003). While almost all cases have primordial dwarfism with substantial prenatal and postnatal growth retardation, not all cases have microcephaly, and microtia and absent/hypoplastic patella are absent in some. Despite the presence of microcephaly, intellect is usually normal (Bicknell et al., 2011). Genetic Heterogeneity of Meier-Gorlin Syndrome Most forms of Meier-Gorlin syndrome are autosomal recessive disorders, including Meier-Gorlin syndrome-1; Meier-Gorlin syndrome-2 (613800), caused by mutation in the ORC4 gene (603056) on chromosome 2q23; Meier-Gorlin syndrome-3 (613803), caused by mutation in the ORC6 gene (607213) on chromosome 16q11; Meier-Gorlin syndrome-4 (613804), caused by mutation in the CDT1 gene (605525) on chromosome 16q24; Meier-Gorlin syndrome-5 (613805), caused by mutation in the CDC6 gene (602627) on chromosome 17q21; Meier-Gorlin syndrome-7 (617063), caused by mutation in the CDC45L gene (603465) on chromosome 22q11; and Meier-Gorlin syndrome-8 (617564), caused by mutation in the MCM5 gene (602696) on chromosome 22q12. An autosomal dominant form of the disorder, Meier-Gorlin syndrome-6 (616835), is caused by mutation in the GMNN gene (602842) on chromosome 6p22.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1641240">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1634617"><div><strong>Shwachman-Diamond syndrome 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1634617</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.">C4693704</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Shwachman-Diamond syndrome (SDS) is characterized by exocrine pancreatic dysfunction with malabsorption, malnutrition, and growth failure; hematologic abnormalities with single- or multilineage cytopenias and susceptibility to myelodysplastic syndrome (MDS) and acute myelogenous leukemia (AML); and bone abnormalities. In almost all affected children, persistent or intermittent neutropenia is an early finding. Short stature and recurrent infections are common.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1634617">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1646454"><div><strong>Spondyloepimetaphyseal dysplasia, di rocco type</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1646454</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.">C4693799</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Spondyloepimetaphyseal dysplasia of the Di Rocco type (SEMDDR) is characterized by short stature, joint pain, and genu varum, as well as SEMD involving primarily the hips but also affecting the wrists, hands, knees, and ankles. Patients also exhibit variable degrees of metaphyseal and spine involvement (Di Rocco et al., 2018).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1646454">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1684771"><div><strong>Spondyloepimetaphyseal dysplasia, Isidor-Toutain type</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1684771</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.">C5231478</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The Isidor-Toutain type of spondyloepimetaphyseal dysplasia (SEMDIST) is characterized by normal birth length, early postnatal growth deficiency, severe short stature, and genu varum. Skeletal radiographs show platyspondyly and severe epiphyseal and metaphyseal changes in the lower limbs (Le Caignec et al., 2019).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1684771">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1725534"><div><strong>Vitamin D-dependent rickets, type 3</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1725534</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.">C5436733</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Vitamin D-dependent rickets-3 (VDDR3) is characterized by early-onset rickets, reduced serum levels of the vitamin D metabolites 25-hydroxyvitamin D and 1,25-dihydroxyvitamin D, and deficient responsiveness to the parent molecule as well as activated forms of vitamin D (Roizen et al., 2018). For discussion of genetic heterogeneity of vitamin D-dependent rickets, see 264700.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1725534">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1784281"><div><strong>Odontochondrodysplasia 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1784281</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.">C5542277</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Odontochondrodysplasia-1 (ODCD1) is characterized by mesomelic shortening of tubular bones, ligamentous laxity, and scoliosis, in association with dentinogenesis imperfecta involving both primary and secondary dentition. Affected individuals show variable severity. Radiologic features include trident pelvis, posteriorly flattened vertebrae, and brachydactyly with cone-shaped epiphyses (Maroteaux et al., 1996). Clinical variability and extraskeletal manifestations have been observed (Wehrle et al., 2019). Genetic Heterogeneity of Odontochondrodysplasia Odontochondrodysplasia-2 with hearing loss and diabetes (ODCD2; 619269) is caused by mutation in the TANGO1 gene (MIA3; 613455) on chromosome 1q41.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1784281">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1794154"><div><strong>Cutis laxa, autosomal recessive, type 2E</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1794154</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.">C5561944</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Autosomal recessive cutis laxa type IIE (ARCL2E) is characterized by connective tissue features, including generalized cutis laxa and inguinal hernia, craniofacial dysmorphology, variable mild heart defects, and prominent skeletal features, including craniosynostosis, short stature, brachydactyly, clinodactyly, and syndactyly (Pottie et al., 2021). For a general phenotypic description and discussion of genetic heterogeneity of autosomal recessive cutis laxa, see ARCL1A (219100).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1794154">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1794238"><div><strong>Acromesomelic dysplasia 4</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1794238</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.">C5562028</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Acromesomelic dysplasia-4 (AMD4) is characterized by disproportionate short stature due to mesomelic shortening of the limbs. Radiographic hallmarks include mild to moderate platyspondyly, moderate brachydactyly, iliac flaring, and metaphyseal alterations of the long bones that progressively increase with age (Diaz-Gonzalez et al., 2022). For a discussion of genetic heterogeneity of acromesomelic dysplasia, see AMD1 (602875).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1794238">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1806598"><div><strong>Combined oxidative phosphorylation deficiency 55</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1806598</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.">C5676915</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Combined oxidative phosphorylation deficiency-55 (COXPD55) is characterized by global developmental delay, hypotonia, short stature, and impaired intellectual development with speech disabilities in childhood. Indolent progressive external ophthalmoplegia phenotype has been described in 1 patient (summary by Olahova et al., 2021). For a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 (609060).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1806598">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1841260"><div><strong>Neurodevelopmental disorder with microcephaly and movement abnormalities</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1841260</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.">C5830624</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Neurodevelopmental disorder with microcephaly and movement abnormalities (NEDMIM) is an autosomal recessive disorder characterized by global developmental delay, impaired intellectual development with poor or absent speech, and delayed walking with an abnormal gait. Affected individuals may show hypotonia or hypertonia with spasticity, ataxia, and choreoathetoid movements. Most patients have microcephaly and short stature. Ophthalmic features, behavioral abnormalities, and nonspecific dysmorphic features are commonly observed. Additional more variable features include seizures, brain imaging abnormalities, and skeletal defects (Serey-Gaut et al., 2023).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1841260">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1289" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Achondroplasia</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_334681" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Acrocapitofemoral dysplasia</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1794238" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Acromesomelic dysplasia 4</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_903767" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_462922" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Blount disease, adolescent</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (46)', 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_65091" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Blount disease, infantile</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1806598" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Combined oxidative phosphorylation deficiency 55</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1382152" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Craniometadiaphyseal dysplasia wormian bone type</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1794154" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cutis laxa, autosomal recessive, type 2E</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_860583" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Desbuquois dysplasia 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_862731" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Desbuquois dysplasia 2</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_120527" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Dyggve-Melchior-Clausen syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_333092" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Epiphyseal dysplasia, multiple, 2</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1620874" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Epiphyseal dysplasia, multiple, 7</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_98376" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypochondroplasia</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_442380" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypophosphatemic rickets, autosomal recessive, 2</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_75559" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Kniest dysplasia</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1641240" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Meier-Gorlin syndrome 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_462463" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Meier-Gorlin syndrome 3</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_414350" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Metaphyseal anadysplasia 2</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_78550" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Metaphyseal chondrodysplasia, Schmid type</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_344437" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_320444" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Metaphyseal dysplasia without hypotrichosis</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_346929" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Microcephaly 2, primary, autosomal recessive, with or without cortical malformations</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_140806" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neonatal pseudo-hydrocephalic progeroid syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1841260" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neurodevelopmental disorder with microcephaly and movement abnormalities</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1784281" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Odontochondrodysplasia 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_96581" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Progressive pseudorheumatoid dysplasia</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_98378" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1644017" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">RAB23-related Carpenter syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_61235" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Radial aplasia-thrombocytopenia syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1634617" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Shwachman-Diamond syndrome 2</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_854757" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Smith-McCort dysplasia 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_266247" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Sponastrime dysplasia</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_412869" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spondylo-megaepiphyseal-metaphyseal dysplasia</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_350960" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spondyloepimetaphyseal dysplasia with multiple dislocations</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1646454" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spondyloepimetaphyseal dysplasia, di rocco type</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1684771" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spondyloepimetaphyseal dysplasia, Isidor-Toutain type</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_355563" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spondyloepimetaphyseal dysplasia, Missouri type</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_400703" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spondyloepimetaphyseal dysplasia, Shohat type</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_373126" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spondyloepiphyseal dysplasia tarda, autosomal recessive, Leroy-Spranger type</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_330777" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spondyloepiphyseal dysplasia, Kimberley type</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_98146" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spondylometaphyseal dysplasia - Sutcliffe type</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_411667" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Vitamin D-dependent rickets, type 2B</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1725534" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Vitamin D-dependent rickets, type 3</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_376281" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">X-linked spondyloepimetaphyseal dysplasia</a></div></span></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_105">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/30027601">Schmid's Type of Metaphyseal Chondrodysplasia: Diagnosis and Management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Al Kaissi A,
|
||
Ghachem MB,
|
||
Nabil NM,
|
||
Kenis V,
|
||
Melchenko E,
|
||
Morenko E,
|
||
Grill F,
|
||
Ganger R,
|
||
Kircher SG</span><br />
|
||
<span class="medgenPMjournal">Orthop Surg</span>
|
||
2018 Aug;10(3):241-246.
|
||
Epub 2018 Jul 19
|
||
doi: 10.1111/os.12382.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30027601" target="_blank">30027601</a><a href="/pmc/articles/PMC6594483" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28459895">Management of bow legs in children: A primary care protocol.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dettling S,
|
||
Weiner DS</span><br />
|
||
<span class="medgenPMjournal">J Fam Pract</span>
|
||
2017 May;66(5):E1-E6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28459895" target="_blank">28459895</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8654021">Genu varum and genu valgum in children: differential diagnosis and guidelines for evaluation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Greene WB</span><br />
|
||
<span class="medgenPMjournal">Compr Ther</span>
|
||
1996 Jan;22(1):22-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8654021" target="_blank">8654021</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22genu%20varum%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (9)</a></div></div>
|
||
</div>
|
||
<div class="display-none help-popup" id="guidelinesHelpPM">These guidelines are articles in PubMed that match specific search criteria developed by MedGen to capture the most relevant practice guidelines. This list may not be comprehensive and may include broader topics as well. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div><div class="display-none help-popup" id="guidelinesHelpCurated">These guidelines are manually curated by the MedGen team
|
||
to supplement articles available in PubMed. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div>
|
||
<div class="portlet mgSection" id="ID_103">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_clinical_studies">Recent clinical studies</h1><a sid="103" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">Etiology</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36196622">Coronal-plane leg alignment in adolescence and the effects of activity: A full leg length MRI study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fernquest S,
|
||
Lloyd T,
|
||
Pereira C,
|
||
Gimpel M,
|
||
Birchall R,
|
||
Broomfield J,
|
||
Glyn-Jones S,
|
||
Palmer A</span><br />
|
||
<span class="medgenPMjournal">J Orthop Res</span>
|
||
2023 May;41(5):973-983.
|
||
Epub 2022 Oct 5
|
||
doi: 10.1002/jor.25442.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36196622" target="_blank">36196622</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28719547">Growth Modulation in Achondroplasia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">McClure PK,
|
||
Kilinc E,
|
||
Birch JG</span><br />
|
||
<span class="medgenPMjournal">J Pediatr Orthop</span>
|
||
2017 Sep;37(6):e384-e387.
|
||
doi: 10.1097/BPO.0000000000001045.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28719547" target="_blank">28719547</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/12640570">Management of musculoskeletal complications of hemophilia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rodriguez-Merchan EC</span><br />
|
||
<span class="medgenPMjournal">Semin Thromb Hemost</span>
|
||
2003 Feb;29(1):87-96.
|
||
doi: 10.1055/s-2003-37942.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12640570" target="_blank">12640570</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8654021">Genu varum and genu valgum in children: differential diagnosis and guidelines for evaluation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Greene WB</span><br />
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<span class="medgenPMjournal">Compr Ther</span>
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1996 Jan;22(1):22-9.
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<div class="nl"><a target="_blank" href="/pubmed/5551872">Genu varum and genu valgum. Another look.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Greenberg LA,
|
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Swartz AA</span><br />
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1971 Mar;121(3):219-21.
|
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doi: 10.1001/archpedi.1971.02100140085006.
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<span class="bold">PMID: </span><a href="/pubmed/5551872" target="_blank">5551872</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Genu%20varum%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 (338)</a></div><h3 class="subhead">Diagnosis</h3>
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<div class="nl"><a target="_blank" href="/pubmed/28719547">Growth Modulation in Achondroplasia.</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/8654021">Genu varum and genu valgum in children: differential diagnosis and guidelines for evaluation.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Greene WB</span><br />
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<div class="portlet_content ln"><span class="medgenPMauthor">Khungar A,
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<div class="nl"><a target="_blank" href="/pubmed/30197216">Increased Patellar Fracture Rate in Total Knee Arthroplasty With Preoperative Varus Greater Than 15°: A Case-Control Study.</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/27261964">Correction of Angular Deformities Due to Focal Fibrocartilaginous Dysplasia Using Guided Growth: A Preliminary Report.</a></div>
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2017 Apr/May;37(3):e183-e187.
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doi: 10.1097/BPO.0000000000000785.
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<span class="bold">PMID: </span><a href="/pubmed/27261964" target="_blank">27261964</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/26200417">Rhabdomyolysis after tourniquet use in proximal tibial osteotomy: a case report and review of the literature.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Türkmen İ,
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Esenkaya İ,
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Unay K,
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doi: 10.3944/AOTT.2015.13.0117.
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<span class="bold">PMID: </span><a href="/pubmed/26200417" target="_blank">26200417</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/22005964">Short-term safety and efficacy of a novel high tibial osteotomy system: a case controlled study.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Getgood A,
|
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Collins B,
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Slynarski K,
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Kurowska E,
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Parker D,
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Engebretsen L,
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MacDonald PB,
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Litchfield R</span><br />
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<span class="medgenPMjournal">Knee Surg Sports Traumatol Arthrosc</span>
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2013 Jan;21(1):260-9.
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Epub 2011 Oct 18
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doi: 10.1007/s00167-011-1709-4.
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<span class="bold">PMID: </span><a href="/pubmed/22005964" target="_blank">22005964</a></div>
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||
<div class="nl"><a target="_blank" href="/pubmed/12640570">Management of musculoskeletal complications of hemophilia.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Rodriguez-Merchan EC</span><br />
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<span class="medgenPMjournal">Semin Thromb Hemost</span>
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2003 Feb;29(1):87-96.
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<span class="bold">PMID: </span><a href="/pubmed/12640570" target="_blank">12640570</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Genu%20varum%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 (105)</a></div><h3 class="subhead">Prognosis</h3>
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||
<div class="nl"><a target="_blank" href="/pubmed/28263806">One-stage computer-assisted total knee arthroplasty and tibial osteotomy.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Denjean S,
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Chatain F,
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Tayot O</span><br />
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<span class="medgenPMjournal">Orthop Traumatol Surg Res</span>
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2017 May;103(3):381-386.
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Epub 2017 Mar 2
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doi: 10.1016/j.otsr.2017.01.007.
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||
<span class="bold">PMID: </span><a href="/pubmed/28263806" target="_blank">28263806</a></div>
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||
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||
<div class="nl"><a target="_blank" href="/pubmed/8654021">Genu varum and genu valgum in children: differential diagnosis and guidelines for evaluation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Greene WB</span><br />
|
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<span class="medgenPMjournal">Compr Ther</span>
|
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1996 Jan;22(1):22-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8654021" target="_blank">8654021</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/2347147">Infantile tibia vara.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Johnston CE 2nd</span><br />
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<span class="medgenPMjournal">Clin Orthop Relat Res</span>
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1990 Jun;(255):13-23.
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<span class="bold">PMID: </span><a href="/pubmed/2347147" target="_blank">2347147</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/1146515">Physiological genu varum.</a></div>
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||
<div class="portlet_content ln"><span class="medgenPMauthor">Hansson LI,
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<span class="medgenPMjournal">Acta Orthop Scand</span>
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<span class="bold">PMID: </span><a href="/pubmed/1146515" target="_blank">1146515</a></div>
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||
|
||
<div class="nl"><a target="_blank" href="/pubmed/5551872">Genu varum and genu valgum. Another look.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Greenberg LA,
|
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Swartz AA</span><br />
|
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<span class="medgenPMjournal">Am J Dis Child</span>
|
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1971 Mar;121(3):219-21.
|
||
doi: 10.1001/archpedi.1971.02100140085006.
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||
<span class="bold">PMID: </span><a href="/pubmed/5551872" target="_blank">5551872</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Genu%20varum%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 (122)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/27261964">Correction of Angular Deformities Due to Focal Fibrocartilaginous Dysplasia Using Guided Growth: A Preliminary Report.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Welborn MC,
|
||
Stevens P</span><br />
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<span class="medgenPMjournal">J Pediatr Orthop</span>
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2017 Apr/May;37(3):e183-e187.
|
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doi: 10.1097/BPO.0000000000000785.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27261964" target="_blank">27261964</a></div>
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||
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<div class="nl"><a target="_blank" href="/pubmed/26235520">Total Knee Arthroplasty in Patients with Blount Disease or Blount-Like Deformity.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Natoli RM,
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Nypaver CM,
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Schiff AP,
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Hopkinson WJ,
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Rees HW</span><br />
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<span class="medgenPMjournal">J Arthroplasty</span>
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2016 Jan;31(1):124-7.
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Epub 2015 Jul 11
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<span class="bold">PMID: </span><a href="/pubmed/26235520" target="_blank">26235520</a></div>
|
||
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||
<div class="nl"><a target="_blank" href="/pubmed/22005964">Short-term safety and efficacy of a novel high tibial osteotomy system: a case controlled study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Getgood A,
|
||
Collins B,
|
||
Slynarski K,
|
||
Kurowska E,
|
||
Parker D,
|
||
Engebretsen L,
|
||
MacDonald PB,
|
||
Litchfield R</span><br />
|
||
<span class="medgenPMjournal">Knee Surg Sports Traumatol Arthrosc</span>
|
||
2013 Jan;21(1):260-9.
|
||
Epub 2011 Oct 18
|
||
doi: 10.1007/s00167-011-1709-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22005964" target="_blank">22005964</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8459023">Normal limits of knee angle in white children--genu varum and genu valgum.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Heath CH,
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Staheli LT</span><br />
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<span class="medgenPMjournal">J Pediatr Orthop</span>
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<span class="bold">PMID: </span><a href="/pubmed/8459023" target="_blank">8459023</a></div>
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||
<div class="nl"><a target="_blank" href="/pubmed/2347147">Infantile tibia vara.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Johnston CE 2nd</span><br />
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<span class="medgenPMjournal">Clin Orthop Relat Res</span>
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1990 Jun;(255):13-23.
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<span class="bold">PMID: </span><a href="/pubmed/2347147" target="_blank">2347147</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Genu%20varum%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 (191)</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_104">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">
|
||
<div class="nl"><a target="_blank" href="/pubmed/36049417">Frontal plane knee moment in clinical gait analysis: A systematic review on the effect of kinematic gait changes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Byrnes SK,
|
||
Holder J,
|
||
Stief F,
|
||
Wearing S,
|
||
Böhm H,
|
||
Dussa CU,
|
||
Horstmann T</span><br />
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||
<span class="medgenPMjournal">Gait Posture</span>
|
||
2022 Oct;98:39-48.
|
||
Epub 2022 Aug 1
|
||
doi: 10.1016/j.gaitpost.2022.07.258.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36049417" target="_blank">36049417</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34406160">Knee measurements among children with normal alignment, physiologic and pathologic bowing aged 0-3 years old: a systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jamil K,
|
||
Chew WY,
|
||
Bohari NE,
|
||
George S,
|
||
Isahak NH,
|
||
Boopalachandran B,
|
||
Hamizan AW,
|
||
Ibrahim S</span><br />
|
||
<span class="medgenPMjournal">J Pediatr Orthop B</span>
|
||
2022 Mar 1;31(2):105-113.
|
||
doi: 10.1097/BPB.0000000000000908.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34406160" target="_blank">34406160</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29968558">Bowlegs and Intensive Football Training in Children and Adolescents.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Thaller PH,
|
||
Fürmetz J,
|
||
Chen F,
|
||
Degen N,
|
||
Manz KM,
|
||
Wolf F</span><br />
|
||
<span class="medgenPMjournal">Dtsch Arztebl Int</span>
|
||
2018 Jun 15;115(24):401-408.
|
||
doi: 10.3238/arztebl.2018.0401.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29968558" target="_blank">29968558</a><a href="/pmc/articles/PMC6050431" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21560257">Patient characteristics that predict progression of knee osteoarthritis: a systematic review of prognostic studies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chapple CM,
|
||
Nicholson H,
|
||
Baxter GD,
|
||
Abbott JH</span><br />
|
||
<span class="medgenPMjournal">Arthritis Care Res (Hoboken)</span>
|
||
2011 Aug;63(8):1115-25.
|
||
doi: 10.1002/acr.20492.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21560257" target="_blank">21560257</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Genu%20varum%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 (4)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
<div id="messagearea_bottom">
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||
|
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</div>
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||
<div class=" bottom">
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|
||
</div>
|
||
</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
<div>
|
||
|
||
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|
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<div class="rightCol mgCol">
|
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<div class="portlet mgSection" id="ID_113">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Genetic_Testing_Registry">Genetic Testing Registry</h1><a sid="106" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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||
<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C0544755%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (7)</a></li>
|
||
<li><a href="/gtr/tests?term=C0544755%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (7)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C0544755%5bDISCUI%5d" target="_blank">See all (7)</a></total></li>
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</ul></div>
|
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</div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_resources">Clinical resources</h1><a sid="119" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul><li><a href="https://clinicaltrials.gov/search?cond=Genu%20varum" target="_blank">ClinicalTrials.gov</a></li></ul></div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Practice_guidelines">Practice guidelines</h1><a sid="121" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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