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<meta name="keywords" content="C0546964, anatomical abnormality, back knee, genu recurvata, genu recurvatum, hyperextension of knee deformity, knee hyperextension, 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 abnormally increased extension of the knee joint, so that the knee can bend backwards." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
UID=107486
ConceptID=C0546964
-->
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Genu recurvatum</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>107486</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0546964</a></dd><dt><span class="dotprefix"></span></dt><dd>Anatomical Abnormality</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
<td>Genu recurvata</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:0002816">HP:0002816</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>
<div class="portlet_content ln">An abnormally increased extension of the knee joint, so that the knee can bend backwards. [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>
<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=C0546964[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=107486">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 unavailable" title="ClinVar">V</span></span><span class="TLline">Genu recurvatum</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><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/1841759" ref="tree=MeSH" title="MedGen record for Abnormal knee physiology">Abnormal knee physiology</a></span><ul><li><span class="TLline"><a href="/medgen/869375" ref="tree=MeSH" title="MedGen record for Hyperextensibility of the knee">Hyperextensibility of the knee</a></span><ul><li><span class="matched_ds">Genu recurvatum</span></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">
<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_44287"><div><strong>Marfan syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>44287</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0024796</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">FBN1-related Marfan syndrome (Marfan syndrome), a systemic disorder of connective tissue with a high degree of clinical variability, comprises a broad phenotypic continuum ranging from mild (features of Marfan syndrome in one or a few systems) to severe and rapidly progressive neonatal multiorgan disease. Cardinal manifestations involve the ocular, skeletal, and cardiovascular systems. Ocular findings include myopia (&gt;50% of affected individuals); ectopia lentis (seen in approximately 60% of affected individuals); and an increased risk for retinal detachment, glaucoma, and early cataracts. Skeletal system manifestations include bone overgrowth and joint laxity; disproportionately long extremities for the size of the trunk (dolichostenomelia); overgrowth of the ribs that can push the sternum in (pectus excavatum) or out (pectus carinatum); and scoliosis that ranges from mild to severe and progressive. The major morbidity and early mortality in Marfan syndrome relate to the cardiovascular system and include dilatation of the aorta at the level of the sinuses of Valsalva (predisposing to aortic tear and rupture), mitral valve prolapse with or without regurgitation, tricuspid valve prolapse, and enlargement of the proximal pulmonary artery. Severe and prolonged regurgitation of the mitral and/or aortic valve can predispose to left ventricular dysfunction and occasionally heart failure. With proper management, the life expectancy of someone with Marfan syndrome approximates that of the general population.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/44287">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)&#10;Click for more information."><span class="highlight" style="background-color:">C0410538</span></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_162904"><div><strong>Megalocornea-intellectual disability syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>162904</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0796086</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">The cardinal findings of Neuhauser syndrome, also known as MMR syndrome, are impaired intellectual development or developmental delay, megalocornea, hypotonia, prominent forehead, micrognathia, prominent nasal bridge, and thin upper lip or carp-like mouth (Naritomi et al., 1997).&#13; Reviews&#13; Gutierrez-Amavizca et al. (2013) reviewed published reports and tabulated the clinical features of 35 patients with Neuhauser syndrome. Primary megalocornea and psychomotor delay were present in all patients. Characteristics observed in more than half of patients included hypotonia, growth retardation, abnormal electroencephalography (EEG) and/or seizures, micro- or macrocephaly, brain malformations such as cerebral atrophy and hypoplastic corpus callosum, craniofacial dysmorphisms, cardiac anomalies, osteoarticular abnormalities, and refractive errors. Additional features found at low frequency included primary hypothyroidism, recurrent infections, feeding difficulties, cerebral hypomyelination, dyslipidemia, sensorineural deafness, laryngomalacia, large fleshy and cup-shaped ears, obesity, and cryptorchidism. The authors stated that the classification suggested by Verloes et al. (1993) did not seem to be applicable, and proposed that the diagnosis of Neuhauser syndrome should be made in the presence of intellectual disability and megalocornea in the absence of elevated intraocular pressure, with at least 1 minor feature from among those observed in more than half of patients.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/162904">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_231160"><div><strong>Shprintzen-Goldberg syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>231160</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C1321551</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Shprintzen-Goldberg syndrome (SGS) is characterized by: delayed motor and cognitive milestones and mild-to-moderate intellectual disability; craniosynostosis of the coronal, sagittal, or lambdoid sutures; distinctive craniofacial features; and musculoskeletal findings including olichostenomelia, arachnodactyly, camptodactyly, pectus excavatum or carinatum, scoliosis, joint hypermobility or contractures, pes planus, foot malposition, and C1-C2 spine malformation. Cardiovascular anomalies may include mitral valve prolapse, secundum atrial septal defect, and aortic root dilatation. Minimal subcutaneous fat, abdominal wall defects, and myopia are also characteristic findings.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/231160">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_331978"><div><strong>Leri pleonosteosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>331978</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C1835450</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Leri pleonosteosis is an autosomal dominant skeletal disorder characterized by flexion contractures of the interphalangeal joints, limited movement of multiple joints, and short, broad metacarpals, metatarsals, and phalanges. Additional features may include chronic joint pain, short stature, bony overgrowths, spinal cord compression, scleroderma-like skin changes, and blepharophimosis. The clinical features overlap with several other musculoskeletal conditions, including Myhre syndrome (MYHRS; 139210) and geleophysic dysplasia (GPHYSD1; 231050) (summary by Banka et al., 2015).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/331978">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_323046"><div><strong>Marfanoid habitus with situs inversus</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>323046</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C1836994</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/323046">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_373381"><div><strong>Spondyloepiphyseal dysplasia with congenital joint dislocations</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>373381</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C1837657</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Chondrodysplasia with congenital joint dislocations, CHST3-related (CDCJD-CHST3) is characterized by short stature of prenatal onset, joint dislocations (knees, hips, radial heads), clubfeet, and limitation of range of motion that can involve all large joints. Kyphosis and occasionally scoliosis with slight shortening of the trunk develop in childhood. Minor heart valve dysplasia has been described in several persons. Intellect and vision are normal.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/373381">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_343979"><div><strong>Nemaline myopathy 7</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>343979</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C1853154</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Nemaline myopathy-7 is an autosomal recessive congenital myopathy characterized by very early onset of hypotonia and delayed motor development. Affected individuals have difficulty walking and running due to proximal muscle weakness. The disorder is slowly progressive, and patients may lose independent ambulation. Muscle biopsy shows nemaline rods and may later show minicores, abnormal protein aggregates, and dystrophic changes (summary by Ockeloen et al., 2012).&#13; For a discussion of genetic heterogeneity of nemaline myopathy, see 161800.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/343979">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_346973"><div><strong>Congenital cataracts-facial dysmorphism-neuropathy syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>346973</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C1858726</a></dd><dt><span class="dotprefix"></span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
<div class="spaceAbove">CTDP1-related congenital cataracts, facial dysmorphism, and neuropathy (CTDP1-CCFDN) is characterized by abnormalities of the eye (bilateral congenital cataracts, microcornea, microphthalmia, micropupils), mildly dysmorphic facial features apparent in late childhood, and a hypo-/demyelinating, symmetric, distal peripheral neuropathy. The neuropathy is predominantly motor at the onset and results in delays in early motor development, progressing to severe disability by the third decade of life. Secondary foot deformities and scoliosis are common. Sensory neuropathy develops after age ten years. Most affected individuals have a mild nonprogressive intellectual deficit and cerebellar involvement including ataxia, nystagmus, intention tremor, and dysmetria. All have short stature and most have subnormal weight. Adults have hypogonadotropic hypogonadism. Parainfectious rhabdomyolysis (profound muscle weakness, myoglobinuria, and excessively elevated serum concentration of creatine kinase usually following a viral infection) is a potentially life-threatening complication. To date all affected individuals and carriers identified have been from the Romani population.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/346973">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_462470"><div><strong>Meier-Gorlin syndrome 4</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>462470</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C3151120</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Meier-Gorlin syndrome-4 (MGORS4) is a rare autosomal recessive disorder with the hallmarks of short stature, small external ears, and reduced or absent patellae. Breast hypoplasia is present in females (Guernsey et al., 2011).&#13; For a general phenotypic description and a discussion of genetic heterogeneity of Meier-Gorlin syndrome, see 224690.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/462470">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_481368"><div><strong>Hereditary spastic paraplegia 47</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>481368</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C3279738</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">AP-4-associated hereditary spastic paraplegia (AP-4-HSP) is a childhood-onset and complex form of hereditary spastic paraplegia. Spastic paraparesis is a universal feature in affected individuals. Manifestations typically begin before age one year, with infants presenting with hypotonia, mild postnatal microcephaly, and delayed developmental milestones. Seizures are common in early childhood, often starting as prolonged febrile seizures. As the disease progresses, older children have intellectual disability that is usually moderate to severe; most affected individuals communicate nonverbally. Neurobehavioral/psychiatric manifestations (e.g., impulsivity, hyperactivity, and inattention) are common. Hypotonia transitions to progressive lower-extremity weakness and spasticity, accompanied by pyramidal signs such as plantar extension, ankle clonus, and hyperreflexia. Although some children achieve independent ambulation, most eventually lose this ability and rely on mobility aids or wheelchairs. In adolescence or early adulthood, spasticity may affect the upper extremities in some individuals but is generally less severe and not significantly disabling. Complications in some individuals include contractures, foot deformities, and bladder and bowel dysfunction. Dysphagia may emerge in advanced stages of the disease.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/481368">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_929458"><div><strong>Ehlers-Danlos syndrome, cardiac valvular type</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>929458</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C4303789</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">The hallmark of the cardiac valvular type of Ehlers-Danlos syndrome (EDSCV) is the severe cardiac-valvular disease, necessitating valve replacement surgery at adult age, in conjunction with variable skin hyperextensibility, atrophic scarring, and joint hypermobility (summary by Brady et al., 2017).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/929458">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_934910"><div><strong>Atypical glycine encephalopathy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>934910</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C4310943</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">GLYT1 encephalopathy is characterized in neonates by severe hypotonia, respiratory failure requiring mechanical ventilation, and absent neonatal reflexes; encephalopathy, including impaired consciousness and unresponsiveness, may be present. Arthrogryposis or joint laxity can be observed. Generalized hypotonia develops later into axial hypotonia with limb hypertonicity and a startle-like response to vocal and visual stimuli which should not be confused with seizures. To date, three of the six affected children reported from three families died between ages two days and seven months; the oldest reported living child is severely globally impaired at age three years. Because of the limited number of affected individuals reported to date, the phenotype has not yet been completely described.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/934910">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)&#10;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).&#13; Genetic Heterogeneity of Meier-Gorlin Syndrome&#13; 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.&#13; 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_1646889"><div><strong>Ehlers-Danlos syndrome, spondylodysplastic type, 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1646889</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C4552003</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Ehlers-Danlos syndrome spondylodysplastic type 1 (EDSSPD1) is characterized by short stature, developmental anomalies of the forearm bones and elbow, and bowing of extremities, in addition to the classic stigmata of Ehlers-Danlos syndrome, including joint laxity, skin hyperextensibility, and poor wound healing. Significant developmental delay is not a consistent feature (Guo et al., 2013).&#13; Genetic Heterogeneity of Ehlers-Danlos Syndrome, Spondylodysplastic Type&#13; See EDSSPD2 (615349), caused by mutation in the B3GALT6 gene (615291), and EDSSPD3 (612350), caused by mutation in the SLC39A13 gene (608735).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1646889">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1684803"><div><strong>Neurodevelopmental disorder with absent language and variable seizures</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1684803</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C5231469</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/1684803">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)&#10;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).&#13; Genetic Heterogeneity of Odontochondrodysplasia&#13; 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_1809253"><div><strong>Congenital disorder of deglycosylation 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1809253</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C5676931</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Congenital disorder of deglycosylation-2 (CDDG2) is an autosomal recessive disorder with variable associated features such as dysmorphic facies, impaired intellectual development, and brain anomalies, including polymicrogyria, interhemispheric cysts, hypothalamic hamartoma, callosal anomalies, and hypoplasia of brainstem and cerebellar vermis (Maia et al., 2022).&#13; For a discussion of genetic heterogeneity of congenital disorder of deglycosylation, see CDGG1 (615273).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1809253">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1844192"><div><strong>Intellectual developmental disorder, autosomal recessive 81</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1844192</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C5882758</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Autosomal recessive intellectual developmental disorder-81 (MRT81) is characterized by a variable neurobehavioral and neuromuscular phenotype (summary by Nair et al., 2021).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1844192">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1863661"><div><strong>Neuroocular syndrome 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1863661</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C5925133</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Neuroocular syndrome-1 (NOC1) encompasses a broad spectrum of overlapping anomalies, with developmental delay or impaired intellectual development as a consistent finding. Eye abnormalities show marked variability in the type and severity of defects, and include anophthalmia, microphthalmia, and coloboma. Other common systemic features include congenital heart and kidney defects, hypotonia, failure to thrive, and microcephaly (summary by Chowdhury et al., 2021).&#13; Genetic Heterogeneity of Neuroocular Syndrome&#13; See also NOC2 (168885), caused by mutation in the DAGLA gene (614015) on chromosome 11q12.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1863661">Condition Record</a></div></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_934910" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Atypical glycine encephalopathy</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_346973" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Congenital cataracts-facial dysmorphism-neuropathy syndrome</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1809253" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Congenital disorder of deglycosylation 2</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_929458" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ehlers-Danlos syndrome, cardiac valvular type</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1646889" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ehlers-Danlos syndrome, spondylodysplastic type, 1</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (20)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_481368" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hereditary spastic paraplegia 47</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1844192" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Intellectual developmental disorder, autosomal recessive 81</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_331978" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Leri pleonosteosis</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_44287" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Marfan syndrome</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_323046" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Marfanoid habitus with situs inversus</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_162904" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Megalocornea-intellectual disability syndrome</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_462470" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Meier-Gorlin syndrome 4</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_343979" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Nemaline myopathy 7</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1684803" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neurodevelopmental disorder with absent language and variable seizures</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1863661" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neuroocular syndrome 1</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_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_231160" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Shprintzen-Goldberg syndrome</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_373381" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spondyloepiphyseal dysplasia with congenital joint dislocations</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/37289939">Prenatal diagnosis and postnatal outcome of fetal congenital knee dislocation: systematic review of literature.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Cavoretto PI,
Castoldi M,
Corbella G,
Forte A,
Moharamzadeh D,
Emedoli D,
Candiani M,
De Pellegrin M</span><br />
<span class="medgenPMjournal">Ultrasound Obstet Gynecol</span>
2023 Dec;62(6):778-787.
doi: 10.1002/uog.26283.
<span class="bold">PMID: </span><a href="/pubmed/37289939" target="_blank">37289939</a></div>
<div class="nl"><a target="_blank" href="/pubmed/34695721">Treatment of knee hyperextension in post-stroke gait. A systematic review.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Geerars M,
Minnaar-van der Feen N,
Huisstede BMA</span><br />
<span class="medgenPMjournal">Gait Posture</span>
2022 Jan;91:137-148.
Epub 2021 Aug 24
doi: 10.1016/j.gaitpost.2021.08.016.
<span class="bold">PMID: </span><a href="/pubmed/34695721" target="_blank">34695721</a></div>
<div class="nl"><a target="_blank" href="/pubmed/5889980">Genu recurvatum congenitum in the newborn: its incidence, course, treatment, prognosis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Charif P,
Reichelderfer TE</span><br />
<span class="medgenPMjournal">Clin Pediatr (Phila)</span>
1965 Oct;4(10):587-94.
doi: 10.1177/000992286500401006.
<span class="bold">PMID: </span><a href="/pubmed/5889980" target="_blank">5889980</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22genu%20recurvatum%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 (8)</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/37289939">Prenatal diagnosis and postnatal outcome of fetal congenital knee dislocation: systematic review of literature.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Cavoretto PI,
Castoldi M,
Corbella G,
Forte A,
Moharamzadeh D,
Emedoli D,
Candiani M,
De Pellegrin M</span><br />
<span class="medgenPMjournal">Ultrasound Obstet Gynecol</span>
2023 Dec;62(6):778-787.
doi: 10.1002/uog.26283.
<span class="bold">PMID: </span><a href="/pubmed/37289939" target="_blank">37289939</a></div>
<div class="nl"><a target="_blank" href="/pubmed/17900909">Brothers with genu recurvatum.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Saito N,
Tensyo K,
Horiuchi H,
Aoki K,
Kobayashi S,
Kato H,
Kosho T</span><br />
<span class="medgenPMjournal">Knee</span>
2007 Dec;14(6):500-1.
Epub 2007 Sep 27
doi: 10.1016/j.knee.2007.08.005.
<span class="bold">PMID: </span><a href="/pubmed/17900909" target="_blank">17900909</a></div>
<div class="nl"><a target="_blank" href="/pubmed/12443954">Medial hamstring lengthening in the presence of hip flexor tightness in spastic diplegia.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Zwick EB,
Saraph V,
Zwick G,
Steinwender C,
Linhart WE,
Steinwender G</span><br />
<span class="medgenPMjournal">Gait Posture</span>
2002 Dec;16(3):288-96.
doi: 10.1016/s0966-6362(02)00022-x.
<span class="bold">PMID: </span><a href="/pubmed/12443954" target="_blank">12443954</a></div>
<div class="nl"><a target="_blank" href="/pubmed/12089505">Genu recurvatum in an adolescent girl: hypothetical etiology and treatment considerations. A case report.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Segev E,
Hendel D,
Wientroub S</span><br />
<span class="medgenPMjournal">J Pediatr Orthop B</span>
2002 Jul;11(3):260-4.
doi: 10.1097/00009957-200207000-00012.
<span class="bold">PMID: </span><a href="/pubmed/12089505" target="_blank">12089505</a></div>
<div class="nl"><a target="_blank" href="/pubmed/1463378">Electrogoniometric feedback: its effect on genu recurvatum in stroke.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Morris ME,
Matyas TA,
Bach TM,
Goldie PA</span><br />
<span class="medgenPMjournal">Arch Phys Med Rehabil</span>
1992 Dec;73(12):1147-54.
<span class="bold">PMID: </span><a href="/pubmed/1463378" target="_blank">1463378</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Genu%20recurvatum%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 (90)</a></div><h3 class="subhead">Diagnosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/37739870">Larsen syndrome in a newborn with genu recurvatum.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Freitas C,
Morais JM,
Moreira A,
Ferraz C</span><br />
<span class="medgenPMjournal">Pediatr Neonatol</span>
2024 Mar;65(2):196-197.
Epub 2023 Sep 11
doi: 10.1016/j.pedneo.2023.06.008.
<span class="bold">PMID: </span><a href="/pubmed/37739870" target="_blank">37739870</a></div>
<div class="nl"><a target="_blank" href="/pubmed/26772939">Instability After Total Knee Arthroplasty.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Cottino U,
Sculco PK,
Sierra RJ,
Abdel MP</span><br />
<span class="medgenPMjournal">Orthop Clin North Am</span>
2016 Apr;47(2):311-6.
doi: 10.1016/j.ocl.2015.09.007.
<span class="bold">PMID: </span><a href="/pubmed/26772939" target="_blank">26772939</a></div>
<div class="nl"><a target="_blank" href="/pubmed/21446216">Patellofemoral disorders and instability.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Lesić AR,
Bumbasirević M,
Sudjić VS,
Mitković MM,
Tulić GDz,
Ivancević N,
Jakovljević A,
Bajec DD</span><br />
<span class="medgenPMjournal">Acta Chir Iugosl</span>
2010;57(4):39-45.
doi: 10.2298/aci1004039l.
<span class="bold">PMID: </span><a href="/pubmed/21446216" target="_blank">21446216</a></div>
<div class="nl"><a target="_blank" href="/pubmed/18399593">Instability after total knee arthroplasty.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Parratte S,
Pagnano MW</span><br />
<span class="medgenPMjournal">Instr Course Lect</span>
2008;57:295-304.
<span class="bold">PMID: </span><a href="/pubmed/18399593" target="_blank">18399593</a></div>
<div class="nl"><a target="_blank" href="/pubmed/16870903">Real-time and 3-dimensional sonographic diagnosis of postural congenital genu recurvatum.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Monteagudo A,
Kudla MM,
Essig M,
Santos R,
Timor-Tritsch IE</span><br />
<span class="medgenPMjournal">J Ultrasound Med</span>
2006 Aug;25(8):1079-83.
doi: 10.7863/jum.2006.25.8.1079.
<span class="bold">PMID: </span><a href="/pubmed/16870903" target="_blank">16870903</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Genu%20recurvatum%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 (36)</a></div><h3 class="subhead">Therapy</h3>
<div class="nl"><a target="_blank" href="/pubmed/33836302">Extreme stiff knee recurvatum following manipulation under anesthesia and botulinum neurotoxin injection.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Tilkeridis K,
Diamantidis D,
Keskinis A,
Paraskevopoulos K,
Chatzipapas C,
Gagali K,
Ververidis AN</span><br />
<span class="medgenPMjournal">Knee</span>
2021 Jun;30:35-40.
Epub 2021 Apr 6
doi: 10.1016/j.knee.2021.03.008.
<span class="bold">PMID: </span><a href="/pubmed/33836302" target="_blank">33836302</a></div>
<div class="nl"><a target="_blank" href="/pubmed/26772939">Instability After Total Knee Arthroplasty.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Cottino U,
Sculco PK,
Sierra RJ,
Abdel MP</span><br />
<span class="medgenPMjournal">Orthop Clin North Am</span>
2016 Apr;47(2):311-6.
doi: 10.1016/j.ocl.2015.09.007.
<span class="bold">PMID: </span><a href="/pubmed/26772939" target="_blank">26772939</a></div>
<div class="nl"><a target="_blank" href="/pubmed/25381421">The unstable knee: wobble and buckle.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Abdel MP,
Haas SB</span><br />
<span class="medgenPMjournal">Bone Joint J</span>
2014 Nov;96-B(11 Supple A):112-4.
doi: 10.1302/0301-620X.96B11.34325.
<span class="bold">PMID: </span><a href="/pubmed/25381421" target="_blank">25381421</a></div>
<div class="nl"><a target="_blank" href="/pubmed/18399593">Instability after total knee arthroplasty.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Parratte S,
Pagnano MW</span><br />
<span class="medgenPMjournal">Instr Course Lect</span>
2008;57:295-304.
<span class="bold">PMID: </span><a href="/pubmed/18399593" target="_blank">18399593</a></div>
<div class="nl"><a target="_blank" href="/pubmed/7076841">Severe genu recurvatum.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Herring JA,
Crawford AM</span><br />
<span class="medgenPMjournal">J Pediatr Orthop</span>
1982 Mar;2(1):97-100.
<span class="bold">PMID: </span><a href="/pubmed/7076841" target="_blank">7076841</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Genu%20recurvatum%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 (32)</a></div><h3 class="subhead">Prognosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/37289939">Prenatal diagnosis and postnatal outcome of fetal congenital knee dislocation: systematic review of literature.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Cavoretto PI,
Castoldi M,
Corbella G,
Forte A,
Moharamzadeh D,
Emedoli D,
Candiani M,
De Pellegrin M</span><br />
<span class="medgenPMjournal">Ultrasound Obstet Gynecol</span>
2023 Dec;62(6):778-787.
doi: 10.1002/uog.26283.
<span class="bold">PMID: </span><a href="/pubmed/37289939" target="_blank">37289939</a></div>
<div class="nl"><a target="_blank" href="/pubmed/37262114">Reducing Knee Hyperextension With an Exoskeleton in Children and Adolescents With Genu Recurvatum: A Feasibility Study.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Lee D,
Shepherd MK,
Mulrine SC,
Schneider JD,
Moore KF,
Eggebrecht EM,
Rogozinski BM,
Herrin KR,
Young AJ</span><br />
<span class="medgenPMjournal">IEEE Trans Biomed Eng</span>
2023 Dec;70(12):3312-3320.
Epub 2023 Nov 21
doi: 10.1109/TBME.2023.3282165.
<span class="bold">PMID: </span><a href="/pubmed/37262114" target="_blank">37262114</a></div>
<div class="nl"><a target="_blank" href="/pubmed/12089505">Genu recurvatum in an adolescent girl: hypothetical etiology and treatment considerations. A case report.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Segev E,
Hendel D,
Wientroub S</span><br />
<span class="medgenPMjournal">J Pediatr Orthop B</span>
2002 Jul;11(3):260-4.
doi: 10.1097/00009957-200207000-00012.
<span class="bold">PMID: </span><a href="/pubmed/12089505" target="_blank">12089505</a></div>
<div class="nl"><a target="_blank" href="/pubmed/457714">Lateral hamstring transfer and gait improvement in the cerebral palsy patient.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Ray RL,
Ehrlich MG</span><br />
<span class="medgenPMjournal">J Bone Joint Surg Am</span>
1979 Jul;61(5):719-23.
<span class="bold">PMID: </span><a href="/pubmed/457714" target="_blank">457714</a></div>
<div class="nl"><a target="_blank" href="/pubmed/5889980">Genu recurvatum congenitum in the newborn: its incidence, course, treatment, prognosis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Charif P,
Reichelderfer TE</span><br />
<span class="medgenPMjournal">Clin Pediatr (Phila)</span>
1965 Oct;4(10):587-94.
doi: 10.1177/000992286500401006.
<span class="bold">PMID: </span><a href="/pubmed/5889980" target="_blank">5889980</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Genu%20recurvatum%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 (37)</a></div><h3 class="subhead">Clinical prediction guides</h3>
<div class="nl"><a target="_blank" href="/pubmed/37289939">Prenatal diagnosis and postnatal outcome of fetal congenital knee dislocation: systematic review of literature.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Cavoretto PI,
Castoldi M,
Corbella G,
Forte A,
Moharamzadeh D,
Emedoli D,
Candiani M,
De Pellegrin M</span><br />
<span class="medgenPMjournal">Ultrasound Obstet Gynecol</span>
2023 Dec;62(6):778-787.
doi: 10.1002/uog.26283.
<span class="bold">PMID: </span><a href="/pubmed/37289939" target="_blank">37289939</a></div>
<div class="nl"><a target="_blank" href="/pubmed/34329759">High tibial flexion osteotomy for symptomatic ligamentous genu recurvatum.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Trojani C,
Micicoi G,
Boileau P</span><br />
<span class="medgenPMjournal">Orthop Traumatol Surg Res</span>
2021 Nov;107(7):103025.
Epub 2021 Jul 27
doi: 10.1016/j.otsr.2021.103025.
<span class="bold">PMID: </span><a href="/pubmed/34329759" target="_blank">34329759</a></div>
<div class="nl"><a target="_blank" href="/pubmed/33966942">Posterior-Stabilized TKA in Patients With Severe Genu Recurvatum Achieves Good Clinical and Radiological Results at 5-year Minimum Follow-Up: A Case-Controlled Study.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Mesnard G,
Batailler C,
Fary C,
Schmidt A,
Servien E,
Lustig S</span><br />
<span class="medgenPMjournal">J Arthroplasty</span>
2021 Sep;36(9):3154-3160.
Epub 2021 Apr 24
doi: 10.1016/j.arth.2021.04.020.
<span class="bold">PMID: </span><a href="/pubmed/33966942" target="_blank">33966942</a></div>
<div class="nl"><a target="_blank" href="/pubmed/32980886">Good outcomes of modified Grammont and Langenskiöld technique in children with habitual patellar dislocation.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Musielak BJ,
Premakumaran P,
Janusz P,
Dziurda M,
Koch A,
Walczak M</span><br />
<span class="medgenPMjournal">Knee Surg Sports Traumatol Arthrosc</span>
2021 Jun;29(6):1983-1989.
Epub 2020 Sep 26
doi: 10.1007/s00167-020-06284-y.
<span class="bold">PMID: </span><a href="/pubmed/32980886" target="_blank">32980886</a><a href="/pmc/articles/PMC8126540" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/27583106">Genu Recurvatum versus Fixed Flexion after Total Knee Arthroplasty.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Koo K,
Silva A,
Chong HC,
Chin PL,
Chia SL,
Lo NN,
Yeo SJ</span><br />
<span class="medgenPMjournal">Clin Orthop Surg</span>
2016 Sep;8(3):249-53.
Epub 2016 Aug 10
doi: 10.4055/cios.2016.8.3.249.
<span class="bold">PMID: </span><a href="/pubmed/27583106" target="_blank">27583106</a><a href="/pmc/articles/PMC4987307" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Genu%20recurvatum%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 (50)</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/37289939">Prenatal diagnosis and postnatal outcome of fetal congenital knee dislocation: systematic review of literature.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Cavoretto PI,
Castoldi M,
Corbella G,
Forte A,
Moharamzadeh D,
Emedoli D,
Candiani M,
De Pellegrin M</span><br />
<span class="medgenPMjournal">Ultrasound Obstet Gynecol</span>
2023 Dec;62(6):778-787.
doi: 10.1002/uog.26283.
<span class="bold">PMID: </span><a href="/pubmed/37289939" target="_blank">37289939</a></div>
<div class="nl"><a target="_blank" href="/pubmed/34695721">Treatment of knee hyperextension in post-stroke gait. A systematic review.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Geerars M,
Minnaar-van der Feen N,
Huisstede BMA</span><br />
<span class="medgenPMjournal">Gait Posture</span>
2022 Jan;91:137-148.
Epub 2021 Aug 24
doi: 10.1016/j.gaitpost.2021.08.016.
<span class="bold">PMID: </span><a href="/pubmed/34695721" target="_blank">34695721</a></div>
<div class="nl"><a target="_blank" href="/pubmed/20153279">Treatment of genu recurvatum in hemiparetic adult patients: a systematic literature review.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Bleyenheuft C,
Bleyenheuft Y,
Hanson P,
Deltombe T</span><br />
<span class="medgenPMjournal">Ann Phys Rehabil Med</span>
2010 Apr;53(3):189-99.
Epub 2010 Jan 28
doi: 10.1016/j.rehab.2010.01.001.
<span class="bold">PMID: </span><a href="/pubmed/20153279" target="_blank">20153279</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Genu%20recurvatum%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 (3)</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="/gtr/tests?term=C0546964%5bDISCUI%5d&amp;filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (8)</a></li>
<li><a href="/gtr/tests?term=C0546964%5bDISCUI%5d&amp;filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (8)</a></li>
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<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22genu%20recurvatum%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul></div>
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