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<!--
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||
UID=168053
|
||
ConceptID=C0878659
|
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-->
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||
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Disproportionate short stature</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>168053</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.">C0878659</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
||
<td>Short stature, disproportionate</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Disproportionate short stature (772086000); DSS - disproportionate short stature (772086000)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>HPO:</td>
|
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<td><a target="_blank" title="Human Phenotype Ontology" href="https://hpo.jax.org/app/browse/term/HP:0003498">HP:0003498</a></td></tr>
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||
<div class="portlet_content ln">A kind of short stature in which different regions of the body are shortened to differing extents. [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 mgSection" id="ID_118">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0878659[DISCUI]&test_type=Clinical" ref="ncbi_uid=168053">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=168053" ref="ncbi_uid=168053">V</a></span></span><span class="TLline">Disproportionate short stature</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/808205" ref="tree=MeSH" title="MedGen record for Growth abnormality">Growth abnormality</a></span><ul><li><span class="TLline"><a href="/medgen/99124" ref="tree=MeSH" title="MedGen record for Growth delay">Growth delay</a></span><ul><li><span class="TLline"><a href="/medgen/87607" ref="tree=MeSH" title="MedGen record for Short stature">Short stature</a></span><ul><li><span class="matched_ds">Disproportionate short stature</span><ul><li><span class="TLline"><a href="/medgen/342370" ref="tree=MeSH" title="MedGen record for Disproportionate short-limb short stature">Disproportionate short-limb short stature</a></span><ul><li><span class="TLline"><a href="/medgen/357998" ref="tree=MeSH" title="MedGen record for Childhood onset short-limb short stature">Childhood onset short-limb short stature</a></span></li><li><span class="TLline"><a href="/medgen/388831" ref="tree=MeSH" title="MedGen record for Lethal short-limbed short stature">Lethal short-limbed short stature</a></span></li><li><span class="TLline"><a href="/medgen/340834" ref="tree=MeSH" title="MedGen record for Mesomelic short stature">Mesomelic short stature</a></span></li><li><span class="TLline"><a href="/medgen/337984" ref="tree=MeSH" title="MedGen record for Neonatal short-limb short stature">Neonatal short-limb short stature</a></span></li><li><span class="TLline"><a href="/medgen/349726" ref="tree=MeSH" title="MedGen record for Severe short-limb dwarfism">Severe short-limb dwarfism</a></span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
|
||
</div>
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||
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||
<div class="portlet mgSection" id="ID_112">
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||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Conditions_with_this_feature">Conditions with this feature</h1><a sid="112" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln clinfeat">
|
||
<div class="divPopper rprt" id="rdis_140928"><div><strong>Metaphyseal chondrodysplasia, Spahr type</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>140928</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.">C0432225</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A rare, genetic, primary bone dysplasia disease characterized by usually moderate, postnatal short stature, progressive genu vara deformity, a waddling gait, and radiological signs of metaphyseal dysplasia (i.e. irregular, sclerotic and widened metaphyses), in the absence of biochemical abnormalities suggestive of rickets disease. Intermittent knee pain, lordosis, and delayed motor development may also occasionally be associated.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/140928">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_96587"><div><strong>Microcephalic osteodysplastic primordial dwarfism type II</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>96587</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.">C0432246</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Microcephalic osteodysplastic primordial dwarfism type II (MOPDII), the most common form of microcephalic primordial dwarfism, is characterized by extreme short stature and microcephaly along with distinctive facial features. Associated features that differentiate it from other forms of primordial dwarfism and that may necessitate treatment include: abnormal dentition, a slender bone skeletal dysplasia with hip deformity and/or scoliosis, insulin resistance / diabetes mellitus, chronic kidney disease, cardiac malformations, and global vascular disease. The latter includes neurovascular disease such as moyamoya vasculopathy and intracranial aneurysms (which can lead to strokes), coronary artery disease (which can lead to premature myocardial infarctions), and renal vascular disease. Hypertension, which is also common, can have multiple underlying causes given the complex comorbidities.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/96587">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_98150"><div><strong>Dysosteosclerosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>98150</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.">C0432262</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A rare genetic primary bone dysplasia disease characterized by progressive osteosclerosis and platyspondyly.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/98150">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_336388"><div><strong>Schinzel phocomelia syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>336388</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.">C1848651</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndrome (AARRS) is a rare autosomal recessive disorder characterized by severe malformations of upper and lower limbs with severely hypoplastic pelvis and abnormal genitalia. The disorder is believed to represent a defect of dorsoventral patterning and outgrowth of limbs (summary by Kantaputra et al., 2010). Overlapping limb reduction syndromes, less severe in nature, that are also caused by homozygous mutation in the WNT7A gene include Fuhrmann syndrome (228930), characterized by fibular aplasia or hypoplasia, femoral bowing, and poly-, syn-, and oligodactyly, and Santos syndrome (228930), characterized by fibular agenesis/hypoplasia, oligodactylous clubfeet, and anonychia/nail hypoplasia. Al-Qattan et al. (2013) stated that AARRS and Fuhrmann syndrome can be differentiated by the following features, which are seen only in AARRS: complete aplasia of 1 or both lower limbs, and absent elbow with radiohumeral synostosis. In addition, the number of digits per hand is 1 to 3 in AARRS, whereas there are 4 to 5 digits in Fuhrmann syndrome. 'Phocomelia' refers to an intercalary limb defect with the hand or foot being directly attached to the humerus or femur (absent zeugopod) or directly attached to the trunk (absent stylopod and zeugopod). AlQattan et al. (2013) stated that the limb defect observed in Schinzel phocomelia syndrome represents 'true' phocomelia, whereas the limb defect in AARRS is an 'apparent' phocomelia, in which there is absent ulna with radiohumeral synostosis. The authors described 3 radiologic features that define 'apparent' phocomelia: a single arm/forearm bone that appears too long to be the humerus alone; a thicker cortex at the area of the radiohumeral synostosis, with or without slight angulation at the site of synostosis; and the apparently single bone resembling the humerus proximally and the radius distally. The authors also noted that phocomelia is not a feature of the allelic disorder Fuhrmann syndrome (228930). Other distinguishing features of Schinzel phocomelia syndrome include normal nails and dorsal hand skin; distoproximal gradient of lower limb defects, without a resultant stick-like appearance; and a characteristic large cranial defect. AlQattan et al. (2013) concluded that Schinzel phocomelia syndrome and AARRS are distinct phenotypes.</div>
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||
<div class="spaceAbove nowrap">See: <a href="/medgen/336388">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_342400"><div><strong>Pelviscapular dysplasia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>342400</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.">C1850040</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">Cousin syndrome is an autosomal recessive complex cranial, cervical, auricular, and skeletal malformation syndrome with scapular and pelvic hypoplasia (summary by Lausch et al., 2008).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/342400">Condition Record</a></div></div>
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||
<div class="divPopper rprt" id="rdis_340816"><div><strong>Spondylometaphyseal dysplasia, Sedaghatian type</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>340816</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.">C1855229</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Sedaghatian-type spondylometaphyseal dysplasia (SMDS) is a rare lethal disorder characterized by severe metaphyseal chondrodysplasia with mild limb shortening, platyspondyly, delayed epiphyseal ossification, irregular iliac crests, and pulmonary hemorrhage. Affected infants present with severe hypotonia and cardiorespiratory problems; most die within days of birth due to respiratory failure. Cardiac abnormalities include conduction defects, complete heart block, and structural anomalies. Half of infants with SMDS are reported to have central nervous system malformations consistent with abnormal neuronal migration, including agenesis of the corpus callosum, pronounced frontotemporal pachygyria, simplified gyral pattern, partial lissencephaly, and severe cerebellar hypoplasia (summary by Smith et al., 2014).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/340816">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_341734"><div><strong>Rhizomelic chondrodysplasia punctata type 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>341734</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.">C1857242</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 (215100) is the most frequent form of RCDP (summary by Wanders and Waterham, 2005). Whereas RCDP1 is a peroxisomal biogenesis disorder (PBD), RCDP2 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/341734">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_355893"><div><strong>Spondylomegaepiphyseal dysplasia with upper limb mesomelia, punctate calcifications, and deafness</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>355893</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.">C1865022</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/355893">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_393098"><div><strong>Severe achondroplasia-developmental delay-acanthosis nigricans syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>393098</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.">C2674173</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">SADDAN dysplasia (severe achondroplasia with developmental delay and acanthosis nigricans) is a very rare skeletal dysplasia characterized by the constellation of these features. Radiology reveals 'ram's horn' shaped clavicles and reverse bowing of lower limbs. Approximately half of patients die before the fourth week of life secondary to respiratory failure (summary by Zankl et al., 2008).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/393098">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1381460"><div><strong>Immunoskeletal dysplasia with neurodevelopmental abnormalities</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1381460</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.">C4479452</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/1381460">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1676818"><div><strong>Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1676818</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.">C5193055</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis (SSASKS)is characterized by disproportionate short stature, defective tooth enamel formation, and skeletal dysplasia with severe scoliosis in some patients. Variable features include facial dysmorphism, moderate hearing impairment, and mildly impaired intellectual development (Ashikov et al., 2018).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1676818">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1794238"><div><strong>Acromesomelic dysplasia 4</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1794238</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C5562028</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Acromesomelic dysplasia-4 (AMD4) is characterized by disproportionate short stature due to mesomelic shortening of the limbs. Radiographic hallmarks include mild to moderate platyspondyly, moderate brachydactyly, iliac flaring, and metaphyseal alterations of the long bones that progressively increase with age (Diaz-Gonzalez et al., 2022). For a discussion of genetic heterogeneity of acromesomelic dysplasia, see AMD1 (602875).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1794238">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1840221"><div><strong>Hemolytic uremic syndrome, atypical, 8, with rhizomelic short stature</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1840221</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.">C5829585</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Atypical hemolytic uremic syndrome-8 with rhizomelic short stature (AHUS8) is an X-linked disorder with variable manifestations. The age at onset of renal symptoms is variable, ranging from infancy to the early twenties. Features of atypical hemolytic uremic syndrome (aHUS) include acute renal dysfunction with proteinuria, thrombotic microangiopathy, anemia, thrombocytopenia, increased serum lactate dehydrogenase (LDH), and schistocytes on peripheral blood smear. Affected individuals also have short stature with short limbs. More variable features include immunodeficiency with recurrent infections, developmental delay, and dysmorphic features. Treatment with C5 inhibitors results in improvement of renal function. Female carriers may show an attenuated phenotype (Hadar et al., 2023; Erger et al., 2023). For a discussion of genetic heterogeneity of aHUS, see AHUS1 (235400).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1840221">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1794238" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Acromesomelic dysplasia 4</a></div>
|
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_98150" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Dysosteosclerosis</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1840221" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hemolytic uremic syndrome, atypical, 8, with rhizomelic short stature</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1381460" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Immunoskeletal dysplasia with neurodevelopmental abnormalities</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="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (15)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_140928" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Metaphyseal chondrodysplasia, Spahr type</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_96587" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Microcephalic osteodysplastic primordial dwarfism type II</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_342400" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pelviscapular dysplasia</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_341734" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Rhizomelic chondrodysplasia punctata type 2</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_336388" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Schinzel phocomelia syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_393098" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Severe achondroplasia-developmental delay-acanthosis nigricans syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1676818" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_355893" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spondylomegaepiphyseal dysplasia with upper limb mesomelia, punctate calcifications, and deafness</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_340816" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spondylometaphyseal dysplasia, Sedaghatian type</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>
|
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<div class="nl"><a target="_blank" href="/pubmed/31068690">Clinical practice recommendations for the diagnosis and management of X-linked hypophosphataemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Haffner D,
|
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Emma F,
|
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Eastwood DM,
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Biosse Duplan M,
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Bacchetta J,
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Schnabel D,
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Wicart P,
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Bockenhauer D,
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Santos F,
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Levtchenko E,
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Harvengt P,
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Kirchhoff M,
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Di Rocco F,
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Chaussain C,
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Brandi ML,
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Savendahl L,
|
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Briot K,
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Kamenicky P,
|
||
Rejnmark L,
|
||
Linglart A</span><br />
|
||
<span class="medgenPMjournal">Nat Rev Nephrol</span>
|
||
2019 Jul;15(7):435-455.
|
||
doi: 10.1038/s41581-019-0152-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31068690" target="_blank">31068690</a><a href="/pmc/articles/PMC7136170" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25391330">Genetic skeletal dysplasias: a guide to diagnosis and management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sewell MD,
|
||
Chahal A,
|
||
Al-Hadithy N,
|
||
Blunn GW,
|
||
Molloy S,
|
||
Hashemi-Nejad A</span><br />
|
||
<span class="medgenPMjournal">J Back Musculoskelet Rehabil</span>
|
||
2015;28(3):575-90.
|
||
doi: 10.3233/BMR-140558.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25391330" target="_blank">25391330</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21460402">Clinical management of achondroplasia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wright MJ,
|
||
Irving MD</span><br />
|
||
<span class="medgenPMjournal">Arch Dis Child</span>
|
||
2012 Feb;97(2):129-34.
|
||
Epub 2011 Apr 3
|
||
doi: 10.1136/adc.2010.189092.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21460402" target="_blank">21460402</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22disproportionate%20short%20stature%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 (15)</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/34949201">Growth in achondroplasia including stature, weight, weight-for-height and head circumference from CLARITY: achondroplasia natural history study-a multi-center retrospective cohort study of achondroplasia in the US.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hoover-Fong JE,
|
||
Schulze KJ,
|
||
Alade AY,
|
||
Bober MB,
|
||
Gough E,
|
||
Hashmi SS,
|
||
Hecht JT,
|
||
Legare JM,
|
||
Little ME,
|
||
Modaff P,
|
||
Pauli RM,
|
||
Rodriguez-Buritica DF,
|
||
Serna ME,
|
||
Smid C,
|
||
Liu C,
|
||
McGready J</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2021 Dec 23;16(1):522.
|
||
doi: 10.1186/s13023-021-02141-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34949201" target="_blank">34949201</a><a href="/pmc/articles/PMC8697459" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29217808">Spectrum of Disproportionate Short Stature at a Tertiary-care Center in Northern India.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Singh A,
|
||
Pradhan G,
|
||
Prasad R,
|
||
Mishra OP,
|
||
Kapoor S</span><br />
|
||
<span class="medgenPMjournal">Indian Pediatr</span>
|
||
2017 Nov 15;54(11):971-972.
|
||
doi: 10.1007/s13312-017-1195-y.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29217808" target="_blank">29217808</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21460402">Clinical management of achondroplasia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wright MJ,
|
||
Irving MD</span><br />
|
||
<span class="medgenPMjournal">Arch Dis Child</span>
|
||
2012 Feb;97(2):129-34.
|
||
Epub 2011 Apr 3
|
||
doi: 10.1136/adc.2010.189092.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21460402" target="_blank">21460402</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/18328979">Spondylo-epi-metaphyseal dysplasia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cormier-Daire V</span><br />
|
||
<span class="medgenPMjournal">Best Pract Res Clin Rheumatol</span>
|
||
2008 Mar;22(1):33-44.
|
||
doi: 10.1016/j.berh.2007.12.009.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18328979" target="_blank">18328979</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/12464233">The skeletal dysplasias.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Savarirayan R,
|
||
Rimoin DL</span><br />
|
||
<span class="medgenPMjournal">Best Pract Res Clin Endocrinol Metab</span>
|
||
2002 Sep;16(3):547-60.
|
||
doi: 10.1053/beem.2002.0210.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12464233" target="_blank">12464233</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Disproportionate%20short%20stature%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 (82)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/31068690">Clinical practice recommendations for the diagnosis and management of X-linked hypophosphataemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Haffner D,
|
||
Emma F,
|
||
Eastwood DM,
|
||
Biosse Duplan M,
|
||
Bacchetta J,
|
||
Schnabel D,
|
||
Wicart P,
|
||
Bockenhauer D,
|
||
Santos F,
|
||
Levtchenko E,
|
||
Harvengt P,
|
||
Kirchhoff M,
|
||
Di Rocco F,
|
||
Chaussain C,
|
||
Brandi ML,
|
||
Savendahl L,
|
||
Briot K,
|
||
Kamenicky P,
|
||
Rejnmark L,
|
||
Linglart A</span><br />
|
||
<span class="medgenPMjournal">Nat Rev Nephrol</span>
|
||
2019 Jul;15(7):435-455.
|
||
doi: 10.1038/s41581-019-0152-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31068690" target="_blank">31068690</a><a href="/pmc/articles/PMC7136170" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29217808">Spectrum of Disproportionate Short Stature at a Tertiary-care Center in Northern India.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Singh A,
|
||
Pradhan G,
|
||
Prasad R,
|
||
Mishra OP,
|
||
Kapoor S</span><br />
|
||
<span class="medgenPMjournal">Indian Pediatr</span>
|
||
2017 Nov 15;54(11):971-972.
|
||
doi: 10.1007/s13312-017-1195-y.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29217808" target="_blank">29217808</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/18328979">Spondylo-epi-metaphyseal dysplasia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cormier-Daire V</span><br />
|
||
<span class="medgenPMjournal">Best Pract Res Clin Rheumatol</span>
|
||
2008 Mar;22(1):33-44.
|
||
doi: 10.1016/j.berh.2007.12.009.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18328979" target="_blank">18328979</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/18328977">Achondroplasia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Baujat G,
|
||
Legeai-Mallet L,
|
||
Finidori G,
|
||
Cormier-Daire V,
|
||
Le Merrer M</span><br />
|
||
<span class="medgenPMjournal">Best Pract Res Clin Rheumatol</span>
|
||
2008 Mar;22(1):3-18.
|
||
doi: 10.1016/j.berh.2007.12.008.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18328977" target="_blank">18328977</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/12464233">The skeletal dysplasias.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Savarirayan R,
|
||
Rimoin DL</span><br />
|
||
<span class="medgenPMjournal">Best Pract Res Clin Endocrinol Metab</span>
|
||
2002 Sep;16(3):547-60.
|
||
doi: 10.1053/beem.2002.0210.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12464233" target="_blank">12464233</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Disproportionate%20short%20stature%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 (107)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38649657">Development of a Weight-Band Dosing Approach for Vosoritide in Children with Achondroplasia Using a Population Pharmacokinetic Model.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Qi Y,
|
||
Chan ML,
|
||
Mould DR,
|
||
Larimore K,
|
||
Fisheleva E,
|
||
Cherukuri A,
|
||
Day J,
|
||
Savarirayan R,
|
||
Irving M,
|
||
Bacino CA,
|
||
Hoover-Fong J,
|
||
Ozono K,
|
||
Mohnike K,
|
||
Wilcox WR,
|
||
Bober MB,
|
||
Henshaw J</span><br />
|
||
<span class="medgenPMjournal">Clin Pharmacokinet</span>
|
||
2024 May;63(5):707-719.
|
||
Epub 2024 Apr 23
|
||
doi: 10.1007/s40262-024-01371-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38649657" target="_blank">38649657</a><a href="/pmc/articles/PMC11106139" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31269546">C-Type Natriuretic Peptide Analogue Therapy in Children with Achondroplasia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Savarirayan R,
|
||
Irving M,
|
||
Bacino CA,
|
||
Bostwick B,
|
||
Charrow J,
|
||
Cormier-Daire V,
|
||
Le Quan Sang KH,
|
||
Dickson P,
|
||
Harmatz P,
|
||
Phillips J,
|
||
Owen N,
|
||
Cherukuri A,
|
||
Jayaram K,
|
||
Jeha GS,
|
||
Larimore K,
|
||
Chan ML,
|
||
Huntsman Labed A,
|
||
Day J,
|
||
Hoover-Fong J</span><br />
|
||
<span class="medgenPMjournal">N Engl J Med</span>
|
||
2019 Jul 4;381(1):25-35.
|
||
Epub 2019 Jun 18
|
||
doi: 10.1056/NEJMoa1813446.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31269546" target="_blank">31269546</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31068690">Clinical practice recommendations for the diagnosis and management of X-linked hypophosphataemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Haffner D,
|
||
Emma F,
|
||
Eastwood DM,
|
||
Biosse Duplan M,
|
||
Bacchetta J,
|
||
Schnabel D,
|
||
Wicart P,
|
||
Bockenhauer D,
|
||
Santos F,
|
||
Levtchenko E,
|
||
Harvengt P,
|
||
Kirchhoff M,
|
||
Di Rocco F,
|
||
Chaussain C,
|
||
Brandi ML,
|
||
Savendahl L,
|
||
Briot K,
|
||
Kamenicky P,
|
||
Rejnmark L,
|
||
Linglart A</span><br />
|
||
<span class="medgenPMjournal">Nat Rev Nephrol</span>
|
||
2019 Jul;15(7):435-455.
|
||
doi: 10.1038/s41581-019-0152-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31068690" target="_blank">31068690</a><a href="/pmc/articles/PMC7136170" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26182483">Achondroplasia: Current Options and Future Perspective.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bouali H,
|
||
Latrech H</span><br />
|
||
<span class="medgenPMjournal">Pediatr Endocrinol Rev</span>
|
||
2015 Jun;12(4):388-95.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26182483" target="_blank">26182483</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8048814">Disproportionate short stature after cranial irradiation and combination chemotherapy for leukaemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Davies HA,
|
||
Didcock E,
|
||
Didi M,
|
||
Ogilvy-Stuart A,
|
||
Wales JK,
|
||
Shalet SM</span><br />
|
||
<span class="medgenPMjournal">Arch Dis Child</span>
|
||
1994 Jun;70(6):472-5.
|
||
doi: 10.1136/adc.70.6.472.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8048814" target="_blank">8048814</a><a href="/pmc/articles/PMC1029863" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Disproportionate%20short%20stature%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 (34)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38879704">Review of patients with achondroplasia: a single-center's experience with follow-up and associated morbidities.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Soğukpınar M,
|
||
Demir GÜ,
|
||
Utine GE,
|
||
Gönç EN,
|
||
Özön ZA,
|
||
Şimşek-Kiper PÖ</span><br />
|
||
<span class="medgenPMjournal">Eur J Pediatr</span>
|
||
2024 Sep;183(9):3819-3829.
|
||
Epub 2024 Jun 15
|
||
doi: 10.1007/s00431-024-05643-y.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38879704" target="_blank">38879704</a><a href="/pmc/articles/PMC11322371" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34840250">Orthopedic concerns of a child with short stature.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Liau ZQG,
|
||
Wang Y,
|
||
Lin HY,
|
||
Cheong CK,
|
||
Gupta S,
|
||
Hui JHP</span><br />
|
||
<span class="medgenPMjournal">Curr Opin Pediatr</span>
|
||
2022 Feb 1;34(1):82-91.
|
||
doi: 10.1097/MOP.0000000000001081.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34840250" target="_blank">34840250</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34403286">Quality of life, physical functioning, and psychosocial function among patients with achondroplasia: a targeted literature review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Constantinides C,
|
||
Landis SH,
|
||
Jarrett J,
|
||
Quinn J,
|
||
Ireland PJ</span><br />
|
||
<span class="medgenPMjournal">Disabil Rehabil</span>
|
||
2022 Oct;44(21):6166-6178.
|
||
Epub 2021 Aug 17
|
||
doi: 10.1080/09638288.2021.1963853.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34403286" target="_blank">34403286</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25391330">Genetic skeletal dysplasias: a guide to diagnosis and management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sewell MD,
|
||
Chahal A,
|
||
Al-Hadithy N,
|
||
Blunn GW,
|
||
Molloy S,
|
||
Hashemi-Nejad A</span><br />
|
||
<span class="medgenPMjournal">J Back Musculoskelet Rehabil</span>
|
||
2015;28(3):575-90.
|
||
doi: 10.3233/BMR-140558.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25391330" target="_blank">25391330</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/18328979">Spondylo-epi-metaphyseal dysplasia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cormier-Daire V</span><br />
|
||
<span class="medgenPMjournal">Best Pract Res Clin Rheumatol</span>
|
||
2008 Mar;22(1):33-44.
|
||
doi: 10.1016/j.berh.2007.12.009.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18328979" target="_blank">18328979</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Disproportionate%20short%20stature%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 (33)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/31467065">Pubertal boy presenting with mild disproportionate short stature.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pellegrin MC,
|
||
Tornese G,
|
||
Barbi E</span><br />
|
||
<span class="medgenPMjournal">Arch Dis Child Educ Pract Ed</span>
|
||
2021 Jun;106(3):149-151.
|
||
Epub 2019 Aug 29
|
||
doi: 10.1136/archdischild-2019-317564.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31467065" target="_blank">31467065</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32803853">Birth prevalence of achondroplasia: A systematic literature review and meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Foreman PK,
|
||
van Kessel F,
|
||
van Hoorn R,
|
||
van den Bosch J,
|
||
Shediac R,
|
||
Landis S</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2020 Oct;182(10):2297-2316.
|
||
Epub 2020 Aug 17
|
||
doi: 10.1002/ajmg.a.61787.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32803853" target="_blank">32803853</a><a href="/pmc/articles/PMC7540685" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31269546">C-Type Natriuretic Peptide Analogue Therapy in Children with Achondroplasia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Savarirayan R,
|
||
Irving M,
|
||
Bacino CA,
|
||
Bostwick B,
|
||
Charrow J,
|
||
Cormier-Daire V,
|
||
Le Quan Sang KH,
|
||
Dickson P,
|
||
Harmatz P,
|
||
Phillips J,
|
||
Owen N,
|
||
Cherukuri A,
|
||
Jayaram K,
|
||
Jeha GS,
|
||
Larimore K,
|
||
Chan ML,
|
||
Huntsman Labed A,
|
||
Day J,
|
||
Hoover-Fong J</span><br />
|
||
<span class="medgenPMjournal">N Engl J Med</span>
|
||
2019 Jul 4;381(1):25-35.
|
||
Epub 2019 Jun 18
|
||
doi: 10.1056/NEJMoa1813446.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31269546" target="_blank">31269546</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8048814">Disproportionate short stature after cranial irradiation and combination chemotherapy for leukaemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Davies HA,
|
||
Didcock E,
|
||
Didi M,
|
||
Ogilvy-Stuart A,
|
||
Wales JK,
|
||
Shalet SM</span><br />
|
||
<span class="medgenPMjournal">Arch Dis Child</span>
|
||
1994 Jun;70(6):472-5.
|
||
doi: 10.1136/adc.70.6.472.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8048814" target="_blank">8048814</a><a href="/pmc/articles/PMC1029863" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8012397">The gene for achondroplasia maps to the telomeric region of chromosome 4p.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Velinov M,
|
||
Slaugenhaupt SA,
|
||
Stoilov I,
|
||
Scott CI Jr,
|
||
Gusella JF,
|
||
Tsipouras P</span><br />
|
||
<span class="medgenPMjournal">Nat Genet</span>
|
||
1994 Mar;6(3):314-7.
|
||
doi: 10.1038/ng0394-314.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8012397" target="_blank">8012397</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Disproportionate%20short%20stature%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 (79)</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_104">
|
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<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/34983594">Impact of achondroplasia on Latin American patients: a systematic review and meta-analysis of observational studies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fano V,
|
||
Kim CA,
|
||
Rosselli P,
|
||
Dib RE,
|
||
Shediac R,
|
||
Magalhães T,
|
||
Mesojedovas D,
|
||
Llerena J Jr</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2022 Jan 4;17(1):4.
|
||
doi: 10.1186/s13023-021-02142-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34983594" target="_blank">34983594</a><a href="/pmc/articles/PMC8728937" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33051983">Earlier detection of hypochondroplasia: A large single-center UK case series and systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sabir AH,
|
||
Sheikh J,
|
||
Singh A,
|
||
Morley E,
|
||
Cocca A,
|
||
Cheung MS,
|
||
Irving M</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2021 Jan;185(1):73-82.
|
||
Epub 2020 Oct 14
|
||
doi: 10.1002/ajmg.a.61912.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33051983" target="_blank">33051983</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32803853">Birth prevalence of achondroplasia: A systematic literature review and meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Foreman PK,
|
||
van Kessel F,
|
||
van Hoorn R,
|
||
van den Bosch J,
|
||
Shediac R,
|
||
Landis S</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2020 Oct;182(10):2297-2316.
|
||
Epub 2020 Aug 17
|
||
doi: 10.1002/ajmg.a.61787.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32803853" target="_blank">32803853</a><a href="/pmc/articles/PMC7540685" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22112021">Lower limb lengthening in patients with disproportionate short stature with achondroplasia: a systematic review of the last 20 years.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Schiedel F,
|
||
Rödl R</span><br />
|
||
<span class="medgenPMjournal">Disabil Rehabil</span>
|
||
2012;34(12):982-7.
|
||
Epub 2011 Nov 23
|
||
doi: 10.3109/09638288.2011.631677.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22112021" target="_blank">22112021</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Disproportionate%20short%20stature%22%20AND%20systematic%5Bsb%5D%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (4)</a></div></div>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C0878659%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (2)</a></li>
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<li><a href="/gtr/tests?term=C0878659%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (2)</a></li>
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<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C0878659%5bDISCUI%5d" target="_blank">See all (2)</a></total></li>
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