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<meta name="keywords" content="C0345375, congenital abnormality, congenital hypoplasia of femur, congenital short femur, femoral agenesis/hypoplasia, femoral hypoplasia, femoral intercalary meromelia, hypoplasia of the femora, short femora, short femur, short femurs, short thighbone, autosomal dominant, autosomal recessive, birth defects, chromosomal disease, chromosome, clinical features, clinical findings, clinical genetics, clinical recommendations, clinvar, congenital chromosomal disease, consumer genetic resources, cytogenetic location, disease characteristics, disease definitions, disease descriptions, disease ontology, disease synonyms, disease vocabulary, dysmorphology, entrez, familial disease, gene, gene-disease relationship, genereviews, genetic disease, genetic disorder, genetic terminology, genetic testing registry, genetics home reference, genomic disease, gtr, hereditary disease, heritable disease, hpo, human phenotype ontology, inherited disease, management guidelines, maternal inheritance, medgen, medical genetics, medical subject headings, mesh, mitochondrial inheritance, mode of inheritance, national center for biotechnology information, national institutes of health, national library of medicine, ncbi, nih, nlm, omim, ordo, orphanet, paternal inheritance, phenome, position statements, professional practice guidelines, rare disease, reference sequence, refseq, snomed ct, syndrome, undiagnosed diseases, x-linked recessive" /><meta name="description" content="An abnormal shortening of the femur." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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||
UID=87499
|
||
ConceptID=C0345375
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Short femur</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>87499</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.">C0345375</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
||
<td>Congenital short femur</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Congenital hypoplasia of femur (93255008); Congenital short femur (93255008)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>HPO:</td>
|
||
<td><a target="_blank" title="Human Phenotype Ontology" href="https://hpo.jax.org/app/browse/term/HP:0003097">HP:0003097</a></td></tr>
|
||
<tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0016032" target="_blank">MONDO:0016032</a></td></tr>
|
||
<tr><td>Orphanet:</td>
|
||
<td><a target="_blank" title="Orphanet: The portal for rare diseases and orphan drugs" href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1987">ORPHA1987</a></td></tr></tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
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<div class="portlet mgSection" id="ID_100">
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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>
|
||
<div class="portlet_content ln">An abnormal shortening of the femur. [from <a title="Human Phenotype Ontology" href="http://www.human-phenotype-ontology.org" class="defSource" target="_blank">HPO</a>]</div>
|
||
</div>
|
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|
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<div class="portlet mgSection" id="ID_118">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li><li><a href="#tabORDO">Orphanet</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="TLline">Short femur</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/1635318" ref="tree=MeSH" title="MedGen record for Aplasia/hypoplasia of the extremities">Aplasia/hypoplasia of the extremities</a></span><ul><li><span class="TLline"><a href="/medgen/892895" ref="tree=MeSH" title="MedGen record for Aplasia/hypoplasia involving bones of the extremities">Aplasia/hypoplasia involving bones of the extremities</a></span><ul><li><span class="TLline"><a href="/medgen/870588" ref="tree=MeSH" title="MedGen record for Aplasia/hypoplasia involving bones of the lower limbs">Aplasia/hypoplasia involving bones of the lower limbs</a></span><ul><li><span class="TLline"><a href="/medgen/376994" ref="tree=MeSH" title="MedGen record for Aplasia/hypoplasia of the femur">Aplasia/hypoplasia of the femur</a></span><ul><li><span class="matched_ds">Short femur</span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div><div id="tabORDO">Follow <a target="_blank" href="http://www.orpha.net/consor/cgi-bin/Disease_Classif.php?lng=EN&data_id=156&PatId=1927&search=Disease_Classif_Simple&new=1" class="ital bold">this link</a> to review classifications for <span class="ital">Short femur</span> in Orphanet.</div></div></div>
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</div>
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<div class="portlet mgSection" id="ID_112">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Conditions_with_this_feature">Conditions with this feature</h1><a sid="112" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln clinfeat">
|
||
<div class="divPopper rprt" id="rdis_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_75557"><div><strong>Grebe syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>75557</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.">C0265260</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Acromesomelic dysplasia-2A (AMD2A), or Grebe chondrodysplasia, is an autosomal recessive disorder characterized by severe abnormality of the limbs and limb joints. The severity of limb shortening progresses in a proximal-distal gradient, with the hands and feet being most affected. The fingers and toes lack articulation and appear as skin appendages. In contrast, axial skeletal structures and the craniofacial skeleton are not affected. Heterozygous individuals are of average stature and have mild skeletal abnormalities (summary by Thomas et al., 1997). Because Grebe syndrome exhibits increasing severity in a proximal-distal gradient, it is classified as a form of acromesomelic dysplasia (Costa et al., 1998). For discussion of the genetic heterogeneity of acromesomelic dysplasia, see AMD1 (602875).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/75557">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_120523"><div><strong>Femoral hypoplasia - unusual facies syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>120523</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.">C0265263</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Femoral-facial syndrome (FFS), also known as femoral hypoplasia-unusual facies syndrome (FHUFS), is a rare and sporadic multiple congenital anomaly syndrome comprising bilateral femoral hypoplasia and characteristic facial features, such as long philtrum, thin upper lip, micrognathia with or without cleft palate, upward-slanting palpebral fissures, and a short nose with broad tip. Other features, such as renal anomalies, are more variable (summary by Nowaczyk et al., 2010).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/120523">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_82701"><div><strong>Atelosteogenesis type I</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>82701</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.">C0265283</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The FLNB disorders include a spectrum of phenotypes ranging from mild to severe. At the mild end are spondylocarpotarsal synostosis (SCT) syndrome and Larsen syndrome; at the severe end are the phenotypic continuum of atelosteogenesis types I (AOI) and III (AOIII) and Piepkorn osteochondrodysplasia (POCD). SCT syndrome is characterized by postnatal disproportionate short stature, scoliosis and lordosis, clubfeet, hearing loss, dental enamel hypoplasia, carpal and tarsal synostosis, and vertebral fusions. Larsen syndrome is characterized by congenital dislocations of the hip, knee, and elbow; clubfeet (equinovarus or equinovalgus foot deformities); scoliosis and cervical kyphosis, which can be associated with a cervical myelopathy; short, broad, spatulate distal phalanges; distinctive craniofacies (prominent forehead, depressed nasal bridge, malar flattening, and widely spaced eyes); vertebral anomalies; and supernumerary carpal and tarsal bone ossification centers. Individuals with SCT syndrome and Larsen syndrome can have midline cleft palate and hearing loss. AOI and AOIII are characterized by severe short-limbed dwarfism; dislocated hips, knees, and elbows; and clubfeet. AOI is lethal in the perinatal period. In individuals with AOIII, survival beyond the neonatal period is possible with intensive and invasive respiratory support. Piepkorn osteochondrodysplasia (POCD) is a perinatal-lethal micromelic dwarfism characterized by flipper-like limbs (polysyndactyly with complete syndactyly of all fingers and toes, hypoplastic or absent first digits, and duplicated intermediate and distal phalanges), macrobrachycephaly, prominant forehead, hypertelorism, and exophthalmos. Occasional features include cleft palate, omphalocele, and cardiac and genitourinary anomalies. The radiographic features at mid-gestation are characteristic.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/82701">Condition Record</a></div></div>
|
||
<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_140930"><div><strong>Kyphomelic dysplasia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>140930</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.">C0432239</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Kyphomelic dysplasia (KMD) is an autosomal recessive disorder characterized by bowing of the limbs, primarily affecting the femurs. Affected individuals also exhibit short stature, short and wide iliac wings, horizontal acetabular roof, platyspondyly, and metaphyseal flaring. Distinctive facial features have been observed, including prominent forehead, micrognathia, microstomia, cleft palate, and low-set ears (Singh et al., 2025).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/140930">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_722059"><div><strong>Hyperparathyroidism, transient neonatal</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>722059</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.">C1300287</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Transient neonatal hyperparathyroidism (HRPTTN) is characterized by interference with placental maternal-fetal calcium transport, causing fetal calcium deficiency resulting in hyperparathyroidism and metabolic bone disease. Because 80% of calcium is transferred during the third trimester, abnormalities may not be detected on second-trimester ultrasounds. Affected infants present at birth with prenatal fractures, shortened ribs, and bowing of long bones, as well as respiratory and feeding difficulties. Postnatal recovery or improvement is observed once calcium is provided orally, with most patients showing complete resolution of skeletal abnormalities by 2 years of age (Suzuki et al., 2018).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/722059">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_233003"><div><strong>Oculootoradial syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>233003</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.">C1327918</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">IVIC syndrome (IVIC) is an autosomal dominant disorder characterized by upper limb anomalies (radial ray defects, carpal bone fusion), extraocular motor disturbances, and congenital bilateral nonprogressive mixed hearing loss. More variable features include heart involvement, mild thrombocytopenia and leukocytosis (before age 50), shoulder girdle hypoplasia, imperforate anus, kidney malrotation, and rectovaginal fistula (summary by Paradisi and Arias, 2007).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/233003">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_321957"><div><strong>Amelia cleft lip palate hydrocephalus iris coloboma</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>321957</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.">C1832434</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Brachial amelia, cleft lip, and holoprosencephaly (ACLH) is a severe multiple congenital anomaly disorder characterized by brachial amelia, cleft lip, and forebrain defects consistent with holoprosencephaly. Although the disorder is rarely reported, the features are consistent enough to constitute a distinct entity (summary by Kariminejad et al., 2009).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/321957">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_374012"><div><strong>Rhizomelic chondrodysplasia punctata type 3</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>374012</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.">C1838612</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Rhizomelic chondrodysplasia punctata (RCDP) is a peroxisomal disorder characterized by disproportionately short stature primarily affecting the proximal parts of the extremities, a typical facial appearance including a broad nasal bridge, epicanthus, high-arched palate, dysplastic external ears, and micrognathia, congenital contractures, characteristic ocular involvement, dwarfism, and severe mental retardation with spasticity. Biochemically, plasmalogen synthesis and phytanic acid alpha-oxidation are defective. Most patients die in the first decade of life. RCDP1 is the most frequent form of RCDP (summary by Wanders and Waterham, 2005). Whereas RCDP1 is a peroxisomal biogenesis disorder (PBD), RCDP3 is classified as a single peroxisome enzyme deficiency (Waterham and Ebberink, 2012). For a discussion of genetic heterogeneity of rhizomelic chondrodysplasia punctata, see 215100.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/374012">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_333474"><div><strong>Coxopodopatellar syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>333474</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.">C1840061</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Ischiocoxopodopatellar syndrome (ICPPS) is a rare autosomal dominant disorder characterized by a/hypoplasia of the patellas and various anomalies of the pelvis and feet. Pelvic anomalies include bilateral absent or delayed ossification of the ischiopubic junction and infraacetabular axe cut notches. Other major signs are a wide gap between the first and second toes, short fourth and fifth rays of the feet, and pes planus (summary by Bongers et al., 2001). Pediatric-onset pulmonary arterial hypertension may be seen in association with ICPPS (Kerstjens-Frederikse et al., 2013 and Levy et al., 2016).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/333474">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_375536"><div><strong>Catel-Manzke syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>375536</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.">C1844887</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Catel-Manzke syndrome is characterized by the Pierre Robin anomaly, which comprises cleft palate, glossoptosis, and micrognathia, and a unique form of bilateral hyperphalangy in which there is an accessory bone inserted between the second metacarpal and its corresponding proximal phalanx, resulting in radial deviation of the index finger (summary by Manzke et al., 2008).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/375536">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_347149"><div><strong>Osteodysplastic primordial dwarfism, type 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>347149</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.">C1859452</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">RNU4atac-opathy encompasses the phenotypic spectrum of biallelic RNU4ATAC pathogenic variants, including the three historically designated clinical phenotypes microcephalic osteodysplastic primordial dwarfism type I/III (MOPDI), Roifman syndrome, and Lowry-Wood syndrome, as well as varying combinations of the disease features / system involvement that do not match specific defined phenotypes. Findings present in all affected individuals include growth restriction, microcephaly, skeletal dysplasia, and cognitive impairment. Less common but variable findings include brain anomalies, seizures, strokes, immunodeficiency, and cardiac anomalies, as well as ophthalmologic, skin, renal, gastrointestinal, hearing, and endocrine involvement.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/347149">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_382795"><div><strong>Skeletal defects, genital hypoplasia, and intellectual disability</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>382795</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.">C2676231</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/382795">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_411200"><div><strong>Orofaciodigital syndrome type 6</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>411200</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.">C2745997</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Orofaciodigital syndrome type VI (OFD6), or Varadi syndrome, is a rare autosomal recessive disorder distinguished from other orofaciodigital syndromes by metacarpal abnormalities with central polydactyly and by cerebellar abnormalities, including the molar tooth sign (summary by Doss et al., 1998 and Lopez et al., 2014).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/411200">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_443954"><div><strong>ALG12-congenital disorder of glycosylation</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>443954</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.">C2931001</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Congenital disorders of glycosylation (CDG), previously called carbohydrate-deficient glycoprotein syndromes (CDGSs), are a group of hereditary multisystem disorders first recognized by Jaeken et al. (1980). The characteristic biochemical abnormality of CDGs is the hypoglycosylation of glycoproteins, which is routinely determined by isoelectric focusing (IEF) of serum transferrin. Type I CDG comprises those disorders in which there is a defect in the assembly of lipid-linked oligosaccharides or their transfer onto nascent glycoproteins, whereas type II CDG comprises defects of trimming, elongation, and processing of protein-bound glycans. CDG1G is a multisystem disorder characterized by impaired psychomotor development, dysmorphic features, failure to thrive, male genital hypoplasia, coagulation abnormalities, and immune deficiency. More variable features include skeletal dysplasia, cardiac anomalies, ocular abnormalities, and sensorineural hearing loss. Some patients die in the early neonatal or infantile period, whereas others are mildly affected and live to adulthood (summary by Tahata et al., 2019). For a general discussion of CDGs, see CDG1A (212065).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/443954">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_462561"><div><strong>Osteogenesis imperfecta type 10</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>462561</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.">C3151211</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Osteogenesis imperfecta (OI) comprises a group of connective tissue disorders characterized by bone fragility and low bone mass. The disorder is clinically and genetically heterogeneous. OI type X is an autosomal recessive form characterized by multiple bone deformities and fractures, generalized osteopenia, dentinogenesis imperfecta, and blue sclera (Christiansen et al., 2010).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/462561">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_899166"><div><strong>Paget disease of bone 2, early-onset</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>899166</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.">C4085251</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Paget disease (PDB) is a metabolic bone disease characterized by focal abnormalities of increased bone turnover affecting one or more sites throughout the skeleton, primarily the axial skeleton. Bone lesions in this disorder show evidence of increased osteoclastic bone resorption and disorganized bone structure. See reviews by Ralston et al. (2008) and Ralston and Albagha (2014). For a discussion of genetic heterogeneity of Paget disease of bone, see 167250.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/899166">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_900688"><div><strong>Complex lethal osteochondrodysplasia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>900688</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.">C4225162</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Complex lethal osteochondrodysplasia of the Symoens-Barnes-Gistelinck type is characterized by severe skeletal osteopenia, microcephaly, multiple fractures, and congenital anomalies including ascites, pleural effusion, and intracranial ventriculomegaly (Symoens et al., 2015).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/900688">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_934777"><div><strong>Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>934777</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.">C4310810</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis is an X-linked recessive disorder with onset of features in early childhood. Anemia is sometimes present. Some patients may show mild early motor or speech delay, but cognition is normal (summary by Andreoletti et al., 2017).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/934777">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1623344"><div><strong>Intellectual disability, autosomal dominant 53</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1623344</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.">C4540481</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1623344">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1684142"><div><strong>Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1684142</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.">C5193057</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination (NEDMEHM) is an autosomal recessive neurometabolic disorder characterized by these cardinal features. Patients also show an exaggerated startle reflex in early infancy (Rodan et al., 2018).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1684142">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1794203"><div><strong>Hypoplastic femurs and pelvis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1794203</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.">C5561993</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hypoplastic femurs and pelvis (HYPOFP) is characterized by congenital isolated bilateral hypoplasia of the femoral and pelvic bones (Socha et al., 2021).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1794203">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1794223"><div><strong>Rhizomelic dysplasia, Ain-Naz type</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1794223</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.">C5562013</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The Ain-Naz type of rhizomelic dysplasia (RHZDAN) is characterized by severe short stature with marked rhizomelic shortening of the limbs, platyspondyly, and large hands and feet relative to height (Ain et al., 2021).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1794223">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1841021"><div><strong>Neurodegeneration and seizures due to copper transport defect</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1841021</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.">C5830385</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Neurodegeneration and seizures due to copper transport defect (NSCT) is an autosomal recessive disorder of copper transport characterized by hypotonia, global developmental delay, seizures, and rapid brain atrophy (summary by Dame et al., 2023).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1841021">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1847194"><div><strong>Neurodevelopmental disorder with impaired language, behavioral abnormalities, and dysmorphic facies</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1847194</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.">C5882686</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Neurodevelopmental disorder with impaired language, behavioral abnormalities, and dysmorphic facies (NEDLBF) is characterized by global developmental delay, speech delay, variably impaired intellectual development, behavioral abnormalities, and dysmorphic facial features. The phenotype and severity of the disorder is heterogeneous, ranging from borderline to severe. Brain imaging is usually normal. More variable additional features include early feeding difficulties, failure to thrive, short stature, mild visual impairment, hypotonia, seizures (particularly febrile), and distal skeletal defects of the hands and feet (Jia et al., 2022).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1847194">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1854813"><div><strong>Orofaciodigital syndrome 20</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1854813</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.">C5935578</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Orofaciodigital syndrome-20 (OFD20) is characterized by bilateral oral clefting, polydactyly/syndactyly, cerebral malformations, cardiac defects, anorectal anomalies, and shortening of the long bones (Bruel et al., 2023). For a general phenotypic description and discussion of genetic heterogeneity of OFD, see OFD1 (311200).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1854813">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>
|
||
<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>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_443954" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">ALG12-congenital disorder of glycosylation</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_321957" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Amelia cleft lip palate hydrocephalus iris coloboma</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_82701" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Atelosteogenesis type I</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (28)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_375536" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Catel-Manzke syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_900688" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Complex lethal osteochondrodysplasia</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_333474" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Coxopodopatellar syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_120523" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Femoral hypoplasia - unusual facies syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_75557" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Grebe syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_722059" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hyperparathyroidism, transient neonatal</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1794203" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypoplastic femurs and pelvis</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1623344" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Intellectual disability, autosomal dominant 53</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_140930" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Kyphomelic dysplasia</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_934777" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis</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_1841021" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neurodegeneration and seizures due to copper transport defect</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1847194" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neurodevelopmental disorder with impaired language, behavioral abnormalities, and dysmorphic facies</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1684142" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_233003" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Oculootoradial syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1854813" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Orofaciodigital syndrome 20</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_411200" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Orofaciodigital syndrome type 6</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_347149" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Osteodysplastic primordial dwarfism, type 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_462561" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Osteogenesis imperfecta type 10</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_899166" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Paget disease of bone 2, early-onset</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_374012" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Rhizomelic chondrodysplasia punctata type 3</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1794223" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Rhizomelic dysplasia, Ain-Naz type</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_382795" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Skeletal defects, genital hypoplasia, and intellectual disability</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/34185917">Prenatal diagnosis of genetic aberrations in fetuses with short femur detected by ultrasound: A prospective cohort study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Li Q,
|
||
Zhang Z,
|
||
Wang J,
|
||
Zhang H,
|
||
Zhu H,
|
||
Lai Y,
|
||
Liu S,
|
||
Wang H,
|
||
Hu T</span><br />
|
||
<span class="medgenPMjournal">Prenat Diagn</span>
|
||
2021 Aug;41(9):1153-1163.
|
||
Epub 2021 Jul 6
|
||
doi: 10.1002/pd.6006.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34185917" target="_blank">34185917</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31566912">Clinical value of genetic analysis in prenatal diagnosis of short femur.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Liu J,
|
||
Huang L,
|
||
He Z,
|
||
Lin S,
|
||
Wang Y,
|
||
Luo Y</span><br />
|
||
<span class="medgenPMjournal">Mol Genet Genomic Med</span>
|
||
2019 Nov;7(11):e978.
|
||
Epub 2019 Sep 30
|
||
doi: 10.1002/mgg3.978.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31566912" target="_blank">31566912</a><a href="/pmc/articles/PMC6825856" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16533652">The role of the second trimester genetic sonogram in screening for fetal Down syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Benacerraf BR</span><br />
|
||
<span class="medgenPMjournal">Semin Perinatol</span>
|
||
2005 Dec;29(6):386-94.
|
||
doi: 10.1053/j.semperi.2005.12.003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16533652" target="_blank">16533652</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22short%20femur%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 (13)</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/30252939">Midtrimester isolated short femur and perinatal outcomes: A systematic review and meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">D'Ambrosio V,
|
||
Vena F,
|
||
Marchetti C,
|
||
Di Mascio D,
|
||
Perrone S,
|
||
Boccherini C,
|
||
Pizzuti A,
|
||
Benedetti Panici P,
|
||
Giancotti A</span><br />
|
||
<span class="medgenPMjournal">Acta Obstet Gynecol Scand</span>
|
||
2019 Jan;98(1):11-17.
|
||
Epub 2018 Oct 31
|
||
doi: 10.1111/aogs.13470.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30252939" target="_blank">30252939</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23208748">Meta-analysis of second-trimester markers for trisomy 21.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Agathokleous M,
|
||
Chaveeva P,
|
||
Poon LC,
|
||
Kosinski P,
|
||
Nicolaides KH</span><br />
|
||
<span class="medgenPMjournal">Ultrasound Obstet Gynecol</span>
|
||
2013 Mar;41(3):247-61.
|
||
Epub 2013 Jan 24
|
||
doi: 10.1002/uog.12364.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23208748" target="_blank">23208748</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22186706">Hip dislocation during lengthening of congenital short femur.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dhawale AA,
|
||
Johari AN,
|
||
Nemade A</span><br />
|
||
<span class="medgenPMjournal">J Pediatr Orthop B</span>
|
||
2012 May;21(3):240-7.
|
||
doi: 10.1097/BPB.0b013e32834f2524.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22186706" target="_blank">22186706</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16533652">The role of the second trimester genetic sonogram in screening for fetal Down syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Benacerraf BR</span><br />
|
||
<span class="medgenPMjournal">Semin Perinatol</span>
|
||
2005 Dec;29(6):386-94.
|
||
doi: 10.1053/j.semperi.2005.12.003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16533652" target="_blank">16533652</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/2399317">Usefulness of a short femur in the in utero detection of skeletal dysplasias.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kurtz AB,
|
||
Needleman L,
|
||
Wapner RJ,
|
||
Hilpert P,
|
||
Kuhlman K,
|
||
Burns PN,
|
||
Feld RI,
|
||
Mitchell DG,
|
||
Segal S,
|
||
Blum L</span><br />
|
||
<span class="medgenPMjournal">Radiology</span>
|
||
1990 Oct;177(1):197-200.
|
||
doi: 10.1148/radiology.177.1.2399317.
|
||
<span class="bold">PMID: </span><a href="/pubmed/2399317" target="_blank">2399317</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Short%20femur%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 (76)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35535755">Diagnostic distribution and postnatal evaluation of prenatally detected short femur: A single center experience.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kahraman AB,
|
||
Simsek-Kiper PO,
|
||
Utine GE,
|
||
Boduroglu K</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2022 Aug;188(8):2367-2375.
|
||
Epub 2022 May 10
|
||
doi: 10.1002/ajmg.a.62769.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35535755" target="_blank">35535755</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35015136">The femur too short? 1373 fetuses with short femur during second-trimester screening.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Friebe-Hoffmann U,
|
||
Dobravsky L,
|
||
Friedl TWP,
|
||
Janni W,
|
||
Knippel AJ,
|
||
Siegmann HJ,
|
||
Kozlowski P</span><br />
|
||
<span class="medgenPMjournal">Arch Gynecol Obstet</span>
|
||
2022 Oct;306(4):1037-1044.
|
||
Epub 2022 Jan 11
|
||
doi: 10.1007/s00404-021-06394-z.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35015136" target="_blank">35015136</a><a href="/pmc/articles/PMC9470684" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23208748">Meta-analysis of second-trimester markers for trisomy 21.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Agathokleous M,
|
||
Chaveeva P,
|
||
Poon LC,
|
||
Kosinski P,
|
||
Nicolaides KH</span><br />
|
||
<span class="medgenPMjournal">Ultrasound Obstet Gynecol</span>
|
||
2013 Mar;41(3):247-61.
|
||
Epub 2013 Jan 24
|
||
doi: 10.1002/uog.12364.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23208748" target="_blank">23208748</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/14687057">Fetal short femur length in the second trimester and the outcome of pregnancy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Todros T,
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Massarenti I,
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Gaglioti P,
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Biolcati M,
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2004 Jan;111(1):83-5.
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|
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<span class="bold">PMID: </span><a href="/pubmed/14687057" target="_blank">14687057</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/3892036">Congenital short femur: prenatal sonographic diagnosis.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Graham M</span><br />
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Short%20femur%22%20AND%20Diagnosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (75)</a></div><h3 class="subhead">Therapy</h3>
|
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<div class="nl"><a target="_blank" href="/pubmed/30252939">Midtrimester isolated short femur and perinatal outcomes: A systematic review and meta-analysis.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">D'Ambrosio V,
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Vena F,
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Marchetti C,
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Di Mascio D,
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Perrone S,
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Boccherini C,
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Pizzuti A,
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Benedetti Panici P,
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Giancotti A</span><br />
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<span class="medgenPMjournal">Acta Obstet Gynecol Scand</span>
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2019 Jan;98(1):11-17.
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Epub 2018 Oct 31
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doi: 10.1111/aogs.13470.
|
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<span class="bold">PMID: </span><a href="/pubmed/30252939" target="_blank">30252939</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22186706">Hip dislocation during lengthening of congenital short femur.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Dhawale AA,
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Johari AN,
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<span class="bold">PMID: </span><a href="/pubmed/22186706" target="_blank">22186706</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/10739271">Growth patterns after lengthening of congenitally short lower limbs in young children.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Sabharwal S,
|
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Paley D,
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Bhave A,
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Herzenberg JE</span><br />
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<span class="medgenPMjournal">J Pediatr Orthop</span>
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2000 Mar-Apr;20(2):137-45.
|
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<span class="bold">PMID: </span><a href="/pubmed/10739271" target="_blank">10739271</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/2647783">Lower limb lengthening by a modified Wagner technique.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Paterson JM,
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Waller CS,
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<span class="medgenPMjournal">J Pediatr Orthop</span>
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1989 Mar-Apr;9(2):129-33.
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<span class="bold">PMID: </span><a href="/pubmed/2647783" target="_blank">2647783</a></div>
|
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||
<div class="nl"><a target="_blank" href="/pubmed/5850353">Congenital short femur.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Fock G,
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Sulamaa M</span><br />
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<span class="medgenPMjournal">Acta Orthop Scand</span>
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doi: 10.3109/17453676508989395.
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<span class="bold">PMID: </span><a href="/pubmed/5850353" target="_blank">5850353</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Short%20femur%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 (12)</a></div><h3 class="subhead">Prognosis</h3>
|
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<div class="nl"><a target="_blank" href="/pubmed/25920687">Imaging features of lower limb malformations above the foot.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bergère A,
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Amzallag-Bellenger E,
|
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Lefebvre G,
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Dieux-Coeslier A,
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Mezel A,
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Herbaux B,
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Boutry N</span><br />
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<span class="medgenPMjournal">Diagn Interv Imaging</span>
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2015 Sep;96(9):901-14.
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Epub 2015 Apr 24
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doi: 10.1016/j.diii.2014.08.008.
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<span class="bold">PMID: </span><a href="/pubmed/25920687" target="_blank">25920687</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22189057">Amniocentesis performed for karyotyping after identified ultrasonographic abnormalities: what to expect?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gaudry P,
|
||
Esvan M,
|
||
Meynard JB,
|
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Lebbar A,
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||
Choiset A,
|
||
Lewin F,
|
||
Tsatsaris V,
|
||
Pannier E,
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Grange G</span><br />
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<span class="medgenPMjournal">Fetal Diagn Ther</span>
|
||
2012;31(1):55-62.
|
||
Epub 2011 Dec 13
|
||
doi: 10.1159/000330373.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22189057" target="_blank">22189057</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10739271">Growth patterns after lengthening of congenitally short lower limbs in young children.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sabharwal S,
|
||
Paley D,
|
||
Bhave A,
|
||
Herzenberg JE</span><br />
|
||
<span class="medgenPMjournal">J Pediatr Orthop</span>
|
||
2000 Mar-Apr;20(2):137-45.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10739271" target="_blank">10739271</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/2531234">Fetal femur length to detect trisomy 21. A reappraisal.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">LaFollette L,
|
||
Filly RA,
|
||
Anderson R,
|
||
Golbus MS</span><br />
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<span class="medgenPMjournal">J Ultrasound Med</span>
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||
1989 Dec;8(12):657-60.
|
||
doi: 10.7863/jum.1989.8.12.657.
|
||
<span class="bold">PMID: </span><a href="/pubmed/2531234" target="_blank">2531234</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/6630254">Missing cruciate ligament in congenital short femur.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Johansson E,
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Aparisi T</span><br />
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<span class="medgenPMjournal">J Bone Joint Surg Am</span>
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1983 Oct;65(8):1109-15.
|
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<span class="bold">PMID: </span><a href="/pubmed/6630254" target="_blank">6630254</a></div>
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||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Short%20femur%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 (43)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35015136">The femur too short? 1373 fetuses with short femur during second-trimester screening.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Friebe-Hoffmann U,
|
||
Dobravsky L,
|
||
Friedl TWP,
|
||
Janni W,
|
||
Knippel AJ,
|
||
Siegmann HJ,
|
||
Kozlowski P</span><br />
|
||
<span class="medgenPMjournal">Arch Gynecol Obstet</span>
|
||
2022 Oct;306(4):1037-1044.
|
||
Epub 2022 Jan 11
|
||
doi: 10.1007/s00404-021-06394-z.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35015136" target="_blank">35015136</a><a href="/pmc/articles/PMC9470684" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22189057">Amniocentesis performed for karyotyping after identified ultrasonographic abnormalities: what to expect?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gaudry P,
|
||
Esvan M,
|
||
Meynard JB,
|
||
Lebbar A,
|
||
Choiset A,
|
||
Lewin F,
|
||
Tsatsaris V,
|
||
Pannier E,
|
||
Grange G</span><br />
|
||
<span class="medgenPMjournal">Fetal Diagn Ther</span>
|
||
2012;31(1):55-62.
|
||
Epub 2011 Dec 13
|
||
doi: 10.1159/000330373.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22189057" target="_blank">22189057</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22186706">Hip dislocation during lengthening of congenital short femur.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dhawale AA,
|
||
Johari AN,
|
||
Nemade A</span><br />
|
||
<span class="medgenPMjournal">J Pediatr Orthop B</span>
|
||
2012 May;21(3):240-7.
|
||
doi: 10.1097/BPB.0b013e32834f2524.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22186706" target="_blank">22186706</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10739271">Growth patterns after lengthening of congenitally short lower limbs in young children.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sabharwal S,
|
||
Paley D,
|
||
Bhave A,
|
||
Herzenberg JE</span><br />
|
||
<span class="medgenPMjournal">J Pediatr Orthop</span>
|
||
2000 Mar-Apr;20(2):137-45.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10739271" target="_blank">10739271</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/2531234">Fetal femur length to detect trisomy 21. A reappraisal.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">LaFollette L,
|
||
Filly RA,
|
||
Anderson R,
|
||
Golbus MS</span><br />
|
||
<span class="medgenPMjournal">J Ultrasound Med</span>
|
||
1989 Dec;8(12):657-60.
|
||
doi: 10.7863/jum.1989.8.12.657.
|
||
<span class="bold">PMID: </span><a href="/pubmed/2531234" target="_blank">2531234</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Short%20femur%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 (44)</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/38442716">Chromosomal Microarray Analysis in Fetuses With Ultrasonographic Soft Markers: A Meta-Analysis of the Current Evidence.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kim U,
|
||
Jung YM,
|
||
Oh S,
|
||
Bae JH,
|
||
Lee J,
|
||
Park CW,
|
||
Park JS,
|
||
Jun JK,
|
||
Lee SM</span><br />
|
||
<span class="medgenPMjournal">J Korean Med Sci</span>
|
||
2024 Mar 4;39(8):e70.
|
||
doi: 10.3346/jkms.2024.39.e70.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38442716" target="_blank">38442716</a><a href="/pmc/articles/PMC10911939" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30252939">Midtrimester isolated short femur and perinatal outcomes: A systematic review and meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">D'Ambrosio V,
|
||
Vena F,
|
||
Marchetti C,
|
||
Di Mascio D,
|
||
Perrone S,
|
||
Boccherini C,
|
||
Pizzuti A,
|
||
Benedetti Panici P,
|
||
Giancotti A</span><br />
|
||
<span class="medgenPMjournal">Acta Obstet Gynecol Scand</span>
|
||
2019 Jan;98(1):11-17.
|
||
Epub 2018 Oct 31
|
||
doi: 10.1111/aogs.13470.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30252939" target="_blank">30252939</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Short%20femur%22%20AND%20systematic%5Bsb%5D%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (2)</a></div></div>
|
||
</div>
|
||
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<h2 class="offscreen_noflow">Supplemental Content</h2>
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<div class="portlet_content ln"><ul><li><a href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=1987" target="_blank">Orphanet</a></li><li><a href="https://clinicaltrials.gov/search?cond=Short%20femur" target="_blank">ClinicalTrials.gov</a></li></ul></div>
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<div class="portlet_content ln"><ul><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Short%20femur" target="_blank">MedlinePlus</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/1503/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</a></li></ul></div>
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<p class="address_footer text-white">National Library of Medicine<br />
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<a href="https://www.google.com/maps/place/8600+Rockville+Pike,+Bethesda,+MD+20894/@38.9959508,-77.101021,17z/data=!3m1!4b1!4m5!3m4!1s0x89b7c95e25765ddb:0x19156f88b27635b8!8m2!3d38.9959508!4d-77.0988323" class="text-white" target="_blank" rel="noopener noreferrer">8600 Rockville Pike<br />
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Bethesda, MD 20894</a></p>
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<p><a href="https://www.nlm.nih.gov/web_policies.html" class="text-white">Web Policies</a><br />
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<a href="https://www.nih.gov/institutes-nih/nih-office-director/office-communications-public-liaison/freedom-information-act-office" class="text-white">FOIA</a><br />
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<a href="https://www.hhs.gov/vulnerability-disclosure-policy/index.html" class="text-white" id="vdp">HHS Vulnerability Disclosure</a></p>
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<div class="col-lg-3 col-12 centered-lg">
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<a href="https://www.nlm.nih.gov/accessibility.html" class="text-white">Accessibility</a><br />
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<a href="https://www.nlm.nih.gov/careers/careers.html" class="text-white">Careers</a></p>
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<a class="text-white" href="//www.nlm.nih.gov/">NLM</a>
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<a class="text-white" href="https://www.nih.gov/">NIH</a>
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<a class="text-white" href="https://www.hhs.gov/">HHS</a>
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<a class="text-white" href="https://www.usa.gov/">USA.gov</a>
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