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<!--
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UID=235613
|
||
ConceptID=C1405984
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Absent radius</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>235613</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.">C1405984</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality; Finding</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
||
<td>Absence of the radii</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:0003974">HP:0003974</a></td></tr>
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<div class="portlet_content ln">Missing radius bone associated with congenital failure of development. [from <a title="Human Phenotype Ontology" href="http://www.human-phenotype-ontology.org" class="defSource" target="_blank">HPO</a>]</div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1405984[DISCUI]&test_type=Clinical" ref="ncbi_uid=235613">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=235613" ref="ncbi_uid=235613">V</a></span></span><span class="TLline">Absent radius</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/866555" ref="tree=MeSH" title="MedGen record for Abnormality of the upper limb">Abnormality of the upper limb</a></span><ul><li><span class="TLline"><a href="/medgen/868067" ref="tree=MeSH" title="MedGen record for Abnormal upper limb bone morphology">Abnormal upper limb bone morphology</a></span><ul><li><span class="TLline"><a href="/medgen/868061" ref="tree=MeSH" title="MedGen record for Abnormal forearm bone morphology">Abnormal forearm bone morphology</a></span><ul><li><span class="TLline"><a href="/medgen/870583" ref="tree=MeSH" title="MedGen record for Aplasia/hypoplasia involving forearm bones">Aplasia/hypoplasia involving forearm bones</a></span><ul><li><span class="TLline"><a href="/medgen/869766" ref="tree=MeSH" title="MedGen record for Aplasia involving forearm bones">Aplasia involving forearm bones</a></span><ul><li><span class="matched_ds">Absent radius</span><ul><li><span class="TLline"><a href="/medgen/336433" ref="tree=MeSH" title="MedGen record for Bilateral radial aplasia">Bilateral radial aplasia</a></span></li><li><span class="TLline"><a href="/medgen/868730" ref="tree=MeSH" title="MedGen record for Unilateral radial aplasia">Unilateral radial aplasia</a></span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
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||
</div>
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<div class="portlet mgSection" id="ID_112">
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||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Conditions_with_this_feature">Conditions with this feature</h1><a sid="112" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln clinfeat">
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||
<div class="divPopper rprt" id="rdis_61235"><div><strong>Radial aplasia-thrombocytopenia syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>61235</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0175703</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Thrombocytopenia absent radius (TAR) syndrome is characterized by bilateral absence of the radii with the presence of both thumbs, and thrombocytopenia that is generally transient. Thrombocytopenia may be congenital or may develop within the first few weeks to months of life; in general, thrombocytopenic episodes decrease with age. Cow's milk allergy is common and can be associated with exacerbation of thrombocytopenia. Other anomalies of the skeleton (upper and lower limbs, ribs, and vertebrae), heart, and genitourinary system (renal anomalies and agenesis of uterus, cervix, and upper part of the vagina) can occur.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/61235">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_120519"><div><strong>Nager syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>120519</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.">C0265245</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Nager syndrome is the prototype for a group of disorders collectively referred to as the acrofacial dysostoses (AFDs), which are characterized by malformation of the craniofacial skeleton and the limbs. The major facial features of Nager syndrome include downslanted palpebral fissures, midface retrusion, and micrognathia, the latter of which often requires the placement of a tracheostomy in early childhood. Limb defects typically involve the anterior (radial) elements of the upper limbs and manifest as small or absent thumbs, triphalangeal thumbs, radial hypoplasia or aplasia, and radioulnar synostosis. Phocomelia of the upper limbs and, occasionally, lower-limb defects have also been reported. The presence of anterior upper-limb defects and the typical lack of lower-limb involvement distinguishes Nager syndrome from Miller syndrome (263750), another rare AFD; however, distinguishing Nager syndrome from other AFDs, including Miller syndrome, can be challenging (summary by Bernier et al., 2012).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/120519">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_120524"><div><strong>Holt-Oram syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>120524</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.">C0265264</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Holt-Oram syndrome (HOS) is characterized by upper-limb defects, congenital heart malformation, and cardiac conduction disease. Upper-limb malformations may be unilateral, bilateral/symmetric, or bilateral/asymmetric and can range from triphalangeal or absent thumb(s) to phocomelia. Other upper-limb malformations can include unequal arm length caused by aplasia or hypoplasia of the radius, fusion or anomalous development of the carpal and thenar bones, abnormal forearm pronation and supination, abnormal opposition of the thumb, sloping shoulders, and restriction of shoulder joint movement. An abnormal carpal bone is present in all affected individuals and may be the only evidence of disease. A congenital heart malformation is present in 75% of individuals with HOS and most commonly involves the septum. Atrial septal defect and ventricular septal defect can vary in number, size, and location. Complex congenital heart malformations can also occur in individuals with HOS. Individuals with HOS with or without a congenital heart malformation are at risk for cardiac conduction disease. While individuals may present at birth with sinus bradycardia and first-degree atrioventricular (AV) block, AV block can progress unpredictably to a higher grade including complete heart block with and without atrial fibrillation.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/120524">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_120532"><div><strong>Baller-Gerold syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>120532</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.">C0265308</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Baller-Gerold syndrome (BGS) can be suspected at birth in an infant with craniosynostosis and upper limb abnormality. The coronal suture is most commonly affected; the metopic, lambdoid, and sagittal sutures may also be involved alone or in combination. Upper limb abnormality can include a combination of thumb hypo- or aplasia and radial hypo- or aplasia and may be asymmetric. Malformation or absence of carpal or metacarpal bones has also been described. Skin lesions may appear anytime within the first few years after birth, typically beginning with erythema of the face and extremities and evolving into poikiloderma. Slow growth is apparent in infancy with eventual height and length typically at 4 SD below the mean.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/120532">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_75567"><div><strong>CHARGE syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>75567</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.">C0265354</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">CHD7 disorder encompasses the entire phenotypic spectrum of heterozygous CHD7 pathogenic variants that includes CHARGE syndrome as well as subsets of features that comprise the CHARGE syndrome phenotype. The mnemonic CHARGE syndrome, introduced in the premolecular era, stands for coloboma, heart defect, choanal atresia, retarded growth and development, genital hypoplasia, ear anomalies (including deafness). Following the identification of the genetic cause of CHD7 disorder, the phenotypic spectrum expanded to include cranial nerve anomalies, vestibular defects, cleft lip and/or palate, hypothyroidism, tracheoesophageal anomalies, brain anomalies, seizures, and renal anomalies. Life expectancy highly depends on the severity of manifestations; mortality can be high in the first few years when severe birth defects (particularly complex heart defects) are present and often complicated by airway and feeding issues. In childhood, adolescence, and adulthood, decreased life expectancy is likely related to a combination of residual heart defects, infections, aspiration or choking, respiratory issues including obstructive and central apnea, and possibly seizures. Despite these complications, the life expectancy for many individuals can be normal.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/75567">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_120543"><div><strong>Cat eye syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>120543</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.">C0265493</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Cat eye syndrome (CES) is characterized clinically by the combination of coloboma of the iris and anal atresia with fistula, downslanting palpebral fissures, preauricular tags and/or pits, frequent occurrence of heart and renal malformations, and normal or near-normal mental development. A small supernumerary chromosome (smaller than chromosome 21) is present, frequently has 2 centromeres, is bisatellited, and represents an inv dup(22)(q11).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/120543">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_120547"><div><strong>Acheiropodia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>120547</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.">C0265559</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Acheiropody is characterized by bilateral congenital amputations of the upper and lower extremities and aplasia of the hands and feet. Specific patterns of malformations consist of a complete amputation of the distal epiphysis of the humerus, amputation of the distal part of the tibial diaphysis, and aplasia of the radius, ulna, fibula, and of the carpal, metacarpal, tarsal, metatarsal, and phalangeal bones (summary by Ianakiev et al., 2001).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/120547">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_95931"><div><strong>Roberts-SC phocomelia syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>95931</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.">C0392475</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">ESCO2 spectrum disorder is characterized by mild-to-severe prenatal growth restriction, limb malformations (which can include bilateral symmetric tetraphocomelia or hypomelia caused by mesomelic shortening), hand anomalies (including oligodactyly, thumb aplasia or hypoplasia, and syndactyly), elbow and knee flexion contractures (involving elbows, wrists, knees, ankles, and feet [talipes equinovarus]), and craniofacial abnormalities (which can include bilateral cleft lip and/or cleft palate, micrognathia, widely spaced eyes, exophthalmos, downslanted palpebral fissures, malar flattening, and underdeveloped ala nasi), ear malformation, and corneal opacities. Intellectual disability (ranging from mild to severe) is common. Early mortality is common among severely affected pregnancies and newborns; mildly affected individuals may survive to adulthood.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/95931">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_96579"><div><strong>Boomerang dysplasia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>96579</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.">C0432201</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The FLNB disorders include a spectrum of phenotypes ranging from mild to severe. At the mild end are spondylocarpotarsal synostosis (SCT) syndrome and Larsen syndrome; at the severe end are the phenotypic continuum of atelosteogenesis types I (AOI) and III (AOIII) and Piepkorn osteochondrodysplasia (POCD). SCT syndrome is characterized by postnatal disproportionate short stature, scoliosis and lordosis, clubfeet, hearing loss, dental enamel hypoplasia, carpal and tarsal synostosis, and vertebral fusions. Larsen syndrome is characterized by congenital dislocations of the hip, knee, and elbow; clubfeet (equinovarus or equinovalgus foot deformities); scoliosis and cervical kyphosis, which can be associated with a cervical myelopathy; short, broad, spatulate distal phalanges; distinctive craniofacies (prominent forehead, depressed nasal bridge, malar flattening, and widely spaced eyes); vertebral anomalies; and supernumerary carpal and tarsal bone ossification centers. Individuals with SCT syndrome and Larsen syndrome can have midline cleft palate and hearing loss. AOI and AOIII are characterized by severe short-limbed dwarfism; dislocated hips, knees, and elbows; and clubfeet. AOI is lethal in the perinatal period. In individuals with AOIII, survival beyond the neonatal period is possible with intensive and invasive respiratory support. Piepkorn osteochondrodysplasia (POCD) is a perinatal-lethal micromelic dwarfism characterized by flipper-like limbs (polysyndactyly with complete syndactyly of all fingers and toes, hypoplastic or absent first digits, and duplicated intermediate and distal phalanges), macrobrachycephaly, prominant forehead, hypertelorism, and exophthalmos. Occasional features include cleft palate, omphalocele, and cardiac and genitourinary anomalies. The radiographic features at mid-gestation are characteristic.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/96579">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_301647"><div><strong>Duane-radial ray syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>301647</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.">C1623209</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">SALL4-related disorders include Duane-radial ray syndrome (DRRS, Okihiro syndrome), acro-renal-ocular syndrome (AROS), and SALL4-related Holt-Oram syndrome (HOS) – three phenotypes previously thought to be distinct entities. DRRS is characterized by uni- or bilateral Duane anomaly and radial ray malformation that can include thenar hypoplasia and/or hypoplasia or aplasia of the thumbs, hypoplasia or aplasia of the radii, shortening and radial deviation of the forearms, triphalangeal thumbs, and duplication of the thumb (preaxial polydactyly). AROS is characterized by radial ray malformations, renal abnormalities (mild malrotation, ectopia, horseshoe kidney, renal hypoplasia, vesicoureteral reflux, bladder diverticula), ocular coloboma, and Duane anomaly. Rarely, pathogenic variants in SALL4 may cause clinically typical HOS (i.e., radial ray malformations and cardiac malformations without additional features).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/301647">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_323016"><div><strong>Fanconi anemia complementation group I</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>323016</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.">C1836861</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Fanconi anemia (FA) is characterized by physical abnormalities, bone marrow failure, and increased risk for malignancy. Physical abnormalities, present in approximately 75% of affected individuals, include one or more of the following: short stature, abnormal skin pigmentation, skeletal malformations of the upper and/or lower limbs, microcephaly, and ophthalmic and genitourinary tract anomalies. Progressive bone marrow failure with pancytopenia typically presents in the first decade, often initially with thrombocytopenia or leukopenia. The incidence of acute myeloid leukemia is 13% by age 50 years. Solid tumors – particularly of the head and neck, skin, and genitourinary tract – are more common in individuals with FA.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/323016">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_333312"><div><strong>Absent radius-anogenital anomalies syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>333312</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.">C1839410</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A rare, genetic limb reduction defects syndrome characterized by bilateral radial aplasia/hypoplasia manifesting with absent/short forearms in association with anogenital abnormalities (e.g. hypospadias or imperforate anus). Additional features reported include hydrocephalus and absent preaxial digits. There have been no further descriptions in the literature since 1993.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/333312">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_337894"><div><strong>Bartsocas-Papas syndrome 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>337894</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.">C1849718</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Bartsocas-Papas syndrome-1 (BPS1) is an autosomal recessive disorder characterized by multiple popliteal pterygia, ankyloblepharon, filiform bands between the jaws, cleft lip and palate, and syndactyly. Early lethality is common, although survival into childhood and beyond has been reported (summary by Mitchell et al., 2012). Genetic Heterogeneity of Bartsocas-Papas Syndrome Bartsocas-Papas syndrome-2 (BPS2) is caused by mutation in the CHUK gene (600664). A less severe form of popliteal pterygium syndrome (PPS; 119500) is caused by mutation in the IRF6 gene (607199).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/337894">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_340697"><div><strong>Laurin-Sandrow syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>340697</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.">C1851100</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Laurin-Sandrow syndrome (LSS) is an autosomal dominant disorder characterized by polysyndactyly of hands and feet, mirror image duplication of feet, and nasal defects (hypoplastic alae nasi, short columella), in connection with absent patella and duplicated fibula (summary by Lohan et al., 2014).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/340697">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_381553"><div><strong>Microcephaly-micromelia syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>381553</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.">C1855079</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Microcephaly-micromelia syndrome (MIMIS) is a severe autosomal recessive disorder that usually results in death in utero or in the perinatal period. Affected individuals have severe growth retardation with microcephaly and variable malformations of the limbs, particularly the upper limbs. Defects include radial ray anomalies, malformed digits, and clubfeet (summary by Evrony et al., 2017).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/381553">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_400843"><div><strong>Ventriculomegaly with defects of the radius and kidney</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>400843</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.">C1865780</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/400843">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_357886"><div><strong>Ulnar-mammary syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>357886</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.">C1866994</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Ulnar-mammary syndrome (UMS) is an autosomal dominant disorder characterized by posterior limb deficiencies or duplications, apocrine/mammary gland hypoplasia and/or dysfunction, abnormal dentition, delayed puberty in males, and genital anomalies (Bamshad et al., 1996).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/357886">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_357270"><div><strong>Radius, aplasia of, with cleft lip/palate</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>357270</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.">C1867395</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/357270">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_357976"><div><strong>Radial-renal syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>357976</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.">C1867396</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/357976">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_419019"><div><strong>VACTERL association, X-linked, with or without hydrocephalus</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>419019</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.">C2931228</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">VACTERL is an acronym for vertebral anomalies (similar to those of spondylocostal dysplasia), anal atresia, cardiac malformations, tracheoesophageal fistula, renal anomalies (urethral atresia with hydronephrosis), and limb anomalies (hexadactyly, humeral hypoplasia, radial aplasia, and proximally placed thumb; see 192350). Some patients may have hydrocephalus, which is referred to as VACTERL-H (Briard et al., 1984).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/419019">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_463627"><div><strong>Fanconi anemia complementation group D2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>463627</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.">C3160738</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Fanconi anemia (FA) is characterized by physical abnormalities, bone marrow failure, and increased risk for malignancy. Physical abnormalities, present in approximately 75% of affected individuals, include one or more of the following: short stature, abnormal skin pigmentation, skeletal malformations of the upper and/or lower limbs, microcephaly, and ophthalmic and genitourinary tract anomalies. Progressive bone marrow failure with pancytopenia typically presents in the first decade, often initially with thrombocytopenia or leukopenia. The incidence of acute myeloid leukemia is 13% by age 50 years. Solid tumors – particularly of the head and neck, skin, and genitourinary tract – are more common in individuals with FA.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/463627">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_463628"><div><strong>Fanconi anemia complementation group E</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>463628</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.">C3160739</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Fanconi anemia (FA) is characterized by physical abnormalities, bone marrow failure, and increased risk for malignancy. Physical abnormalities, present in approximately 75% of affected individuals, include one or more of the following: short stature, abnormal skin pigmentation, skeletal malformations of the upper and/or lower limbs, microcephaly, and ophthalmic and genitourinary tract anomalies. Progressive bone marrow failure with pancytopenia typically presents in the first decade, often initially with thrombocytopenia or leukopenia. The incidence of acute myeloid leukemia is 13% by age 50 years. Solid tumors – particularly of the head and neck, skin, and genitourinary tract – are more common in individuals with FA.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/463628">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_483324"><div><strong>Fanconi anemia complementation group C</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>483324</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.">C3468041</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Fanconi anemia (FA) is characterized by physical abnormalities, bone marrow failure, and increased risk for malignancy. Physical abnormalities, present in approximately 75% of affected individuals, include one or more of the following: short stature, abnormal skin pigmentation, skeletal malformations of the upper and/or lower limbs, microcephaly, and ophthalmic and genitourinary tract anomalies. Progressive bone marrow failure with pancytopenia typically presents in the first decade, often initially with thrombocytopenia or leukopenia. The incidence of acute myeloid leukemia is 13% by age 50 years. Solid tumors – particularly of the head and neck, skin, and genitourinary tract – are more common in individuals with FA.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/483324">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_483333"><div><strong>Fanconi anemia complementation group A</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>483333</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.">C3469521</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Fanconi anemia (FA) is characterized by physical abnormalities, bone marrow failure, and increased risk for malignancy. Physical abnormalities, present in approximately 75% of affected individuals, include one or more of the following: short stature, abnormal skin pigmentation, skeletal malformations of the upper and/or lower limbs, microcephaly, and ophthalmic and genitourinary tract anomalies. Progressive bone marrow failure with pancytopenia typically presents in the first decade, often initially with thrombocytopenia or leukopenia. The incidence of acute myeloid leukemia is 13% by age 50 years. Solid tumors – particularly of the head and neck, skin, and genitourinary tract – are more common in individuals with FA.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/483333">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_854018"><div><strong>Fanconi anemia complementation group L</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>854018</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.">C3469528</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Fanconi anemia (FA) is characterized by physical abnormalities, bone marrow failure, and increased risk for malignancy. Physical abnormalities, present in approximately 75% of affected individuals, include one or more of the following: short stature, abnormal skin pigmentation, skeletal malformations of the upper and/or lower limbs, microcephaly, and ophthalmic and genitourinary tract anomalies. Progressive bone marrow failure with pancytopenia typically presents in the first decade, often initially with thrombocytopenia or leukopenia. The incidence of acute myeloid leukemia is 13% by age 50 years. Solid tumors – particularly of the head and neck, skin, and genitourinary tract – are more common in individuals with FA.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/854018">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_902479"><div><strong>VATER association</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>902479</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.">C4225671</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">VATER is a mnemonically useful acronym for the nonrandom association of vertebral defects (V), anal atresia (A), tracheoesophageal fistula with esophageal atresia (TE), and radial or renal dysplasia (R). This combination of associated defects was pointed out by Quan and Smith (1972). Nearly all cases have been sporadic. VACTERL is an acronym for an expanded definition of the association that includes cardiac malformations (C) and limb anomalies (L). The VACTERL association is a spectrum of various combinations of its 6 components, which can be a manifestation of several recognized disorders rather than a distinct anatomic or etiologic entity (Khoury et al., 1983). Also see VATER/VACTERL association with hydrocephalus (VACTERL-H; 276950) and VACTERL with or without hydrocephalus (VACTERLX; 314390).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/902479">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_934618"><div><strong>Fanconi anemia complementation group U</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>934618</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.">C4310651</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Fanconi anemia (FA) is characterized by physical abnormalities, bone marrow failure, and increased risk for malignancy. Physical abnormalities, present in approximately 75% of affected individuals, include one or more of the following: short stature, abnormal skin pigmentation, skeletal malformations of the upper and/or lower limbs, microcephaly, and ophthalmic and genitourinary tract anomalies. Progressive bone marrow failure with pancytopenia typically presents in the first decade, often initially with thrombocytopenia or leukopenia. The incidence of acute myeloid leukemia is 13% by age 50 years. Solid tumors – particularly of the head and neck, skin, and genitourinary tract – are more common in individuals with FA.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/934618">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1824096"><div><strong>LADD syndrome 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1824096</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.">C5774323</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Lacrimoauriculodentodigital syndrome-1 (LADD1) is a multiple congenital anomaly disorder mainly affecting lacrimal glands and ducts, salivary glands and ducts, ears, teeth, and distal limb segments (summary by Rohmann et al., 2006). Genetic Heterogeneity of Lacrimoauriculodentodigital Syndrome LADD syndrome-2 (LADD2; 620192) is caused by mutation in the FGFR3 gene (134934) on chromosome 4p16, and LADD syndrome-3 (LADD3; 620193) is caused by mutation in the FGF10 gene, an FGFR ligand, on chromosome 5p12.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1824096">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_333312" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Absent radius-anogenital anomalies syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_120547" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Acheiropodia</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_120532" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Baller-Gerold syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_337894" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Bartsocas-Papas syndrome 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_96579" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Boomerang dysplasia</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (28)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_120543" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cat eye syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_75567" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">CHARGE syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_301647" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Duane-radial ray syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_483333" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Fanconi anemia complementation group A</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_483324" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Fanconi anemia complementation group C</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_463627" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Fanconi anemia complementation group D2</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_463628" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Fanconi anemia complementation group E</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_323016" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Fanconi anemia complementation group I</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_854018" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Fanconi anemia complementation group L</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_934618" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Fanconi anemia complementation group U</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_120524" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Holt-Oram syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1824096" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">LADD syndrome 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_340697" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Laurin-Sandrow syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_381553" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Microcephaly-micromelia syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_120519" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Nager syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_61235" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Radial aplasia-thrombocytopenia syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_357976" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Radial-renal syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_357270" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Radius, aplasia of, with cleft lip/palate</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_95931" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Roberts-SC phocomelia syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_357886" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ulnar-mammary syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_419019" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">VACTERL association, X-linked, with or without hydrocephalus</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_902479" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">VATER association</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_400843" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ventriculomegaly with defects of the radius and kidney</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/35641461">Prenatal Diagnosis and Management of Thrombocytopenia-Absent Radius Syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Espinoza AF,
|
||
Krispin E,
|
||
Cortes MS,
|
||
Kirk S,
|
||
Hui SK,
|
||
Wagner KB,
|
||
Despotovic J,
|
||
Shamshirsaz AA</span><br />
|
||
<span class="medgenPMjournal">Neoreviews</span>
|
||
2022 Jun 1;23(6):e429-e433.
|
||
doi: 10.1542/neo.23-6-e429.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35641461" target="_blank">35641461</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21771154">Management of children with thrombocytopenia-absent radius syndrome: an institutional experience.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Coccia P,
|
||
Ruggiero A,
|
||
Mastrangelo S,
|
||
Attinà G,
|
||
Scalzone M,
|
||
Pittiruti M,
|
||
Zampino G,
|
||
Maurizi P,
|
||
Riccardi R</span><br />
|
||
<span class="medgenPMjournal">J Paediatr Child Health</span>
|
||
2012 Feb;48(2):166-9.
|
||
Epub 2011 Jul 19
|
||
doi: 10.1111/j.1440-1754.2011.02069.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21771154" target="_blank">21771154</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17847015">Impact of array comparative genomic hybridization-derived information on genetic counseling demonstrated by prenatal diagnosis of the TAR (thrombocytopenia-absent-radius) syndrome-associated microdeletion 1q21.1.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Uhrig S,
|
||
Schlembach D,
|
||
Waldispuehl-Geigl J,
|
||
Schaffer W,
|
||
Geigl J,
|
||
Klopocki E,
|
||
Mundlos S,
|
||
Speicher MR</span><br />
|
||
<span class="medgenPMjournal">Am J Hum Genet</span>
|
||
2007 Oct;81(4):866-8.
|
||
doi: 10.1086/521338.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17847015" target="_blank">17847015</a><a href="/pmc/articles/PMC2227939" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22absent%20radius%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (9)</a></div></div>
|
||
</div>
|
||
<div class="display-none help-popup" id="guidelinesHelpPM">These guidelines are articles in PubMed that match specific search criteria developed by MedGen to capture the most relevant practice guidelines. This list may not be comprehensive and may include broader topics as well. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div><div class="display-none help-popup" id="guidelinesHelpCurated">These guidelines are manually curated by the MedGen team
|
||
to supplement articles available in PubMed. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div>
|
||
<div class="portlet mgSection" id="ID_103">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_clinical_studies">Recent clinical studies</h1><a sid="103" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">Etiology</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39348862">Whole Exome Sequencing Identifies Epithelial and Immune Dysfunction-Related Biomarkers in Food Protein-Induced Enterocolitis Syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Camino-Mera A,
|
||
Pardo-Seco J,
|
||
Bello X,
|
||
Argiz L,
|
||
Boyle RJ,
|
||
Custovic A,
|
||
Herberg J,
|
||
Kaforou M,
|
||
Arasi S,
|
||
Fiocchi A,
|
||
Pecora V,
|
||
Barni S,
|
||
Mori F,
|
||
Bracamonte T,
|
||
Echeverria L,
|
||
O'Valle-Aísa V,
|
||
Hernández-Martínez NL,
|
||
Carballeira I,
|
||
García E,
|
||
Garcia-Magan C,
|
||
Moure-González JD,
|
||
Gonzalez-Delgado P,
|
||
Garriga-Baraut T,
|
||
Infante S,
|
||
Zambrano-Ibarra G,
|
||
Tomás-Pérez M,
|
||
Machinena A,
|
||
Pascal M,
|
||
Prieto A,
|
||
Vázquez-Cortes S,
|
||
Fernández-Rivas M,
|
||
Vila L,
|
||
Alsina L,
|
||
Torres MJ,
|
||
Mangone G,
|
||
Quirce S,
|
||
Martinón-Torres F,
|
||
Vázquez-Ortiz M,
|
||
Gómez-Carballa A,
|
||
Salas A</span><br />
|
||
<span class="medgenPMjournal">Clin Exp Allergy</span>
|
||
2024 Nov;54(11):919-929.
|
||
Epub 2024 Sep 30
|
||
doi: 10.1111/cea.14564.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39348862" target="_blank">39348862</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35230999">Congenital Disorders of the Pediatric Thumb.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nguyen JL,
|
||
Ho CA</span><br />
|
||
<span class="medgenPMjournal">JBJS Rev</span>
|
||
2022 Mar 1;10(3)
|
||
doi: 10.2106/JBJS.RVW.21.00147.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35230999" target="_blank">35230999</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22317977">Proximal microdeletions and microduplications of 1q21.1 contribute to variable abnormal phenotypes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rosenfeld JA,
|
||
Traylor RN,
|
||
Schaefer GB,
|
||
McPherson EW,
|
||
Ballif BC,
|
||
Klopocki E,
|
||
Mundlos S,
|
||
Shaffer LG,
|
||
Aylsworth AS;
|
||
1q21.1 Study Group</span><br />
|
||
<span class="medgenPMjournal">Eur J Hum Genet</span>
|
||
2012 Jul;20(7):754-61.
|
||
Epub 2012 Feb 8
|
||
doi: 10.1038/ejhg.2012.6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22317977" target="_blank">22317977</a><a href="/pmc/articles/PMC3376272" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21738028">Neonatal and adult megakaryopoiesis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Liu ZJ,
|
||
Sola-Visner M</span><br />
|
||
<span class="medgenPMjournal">Curr Opin Hematol</span>
|
||
2011 Sep;18(5):330-7.
|
||
doi: 10.1097/MOH.0b013e3283497ed5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21738028" target="_blank">21738028</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/3146292">Parent to child transmission of the thrombocytopenia absent radius (TAR) syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ward RE,
|
||
Bixler D,
|
||
Provisor AJ,
|
||
Bader P</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet Suppl</span>
|
||
1986;2:207-14.
|
||
doi: 10.1002/ajmg.1320250625.
|
||
<span class="bold">PMID: </span><a href="/pubmed/3146292" target="_blank">3146292</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Absent%20radius%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 (28)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35641461">Prenatal Diagnosis and Management of Thrombocytopenia-Absent Radius Syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Espinoza AF,
|
||
Krispin E,
|
||
Cortes MS,
|
||
Kirk S,
|
||
Hui SK,
|
||
Wagner KB,
|
||
Despotovic J,
|
||
Shamshirsaz AA</span><br />
|
||
<span class="medgenPMjournal">Neoreviews</span>
|
||
2022 Jun 1;23(6):e429-e433.
|
||
doi: 10.1542/neo.23-6-e429.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35641461" target="_blank">35641461</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27320760">Molecular diagnosis of thrombocytopenia-absent radius syndrome using next-generation sequencing.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nicchia E,
|
||
Giordano P,
|
||
Greco C,
|
||
De Rocco D,
|
||
Savoia A</span><br />
|
||
<span class="medgenPMjournal">Int J Lab Hematol</span>
|
||
2016 Aug;38(4):412-8.
|
||
Epub 2016 Jun 20
|
||
doi: 10.1111/ijlh.12516.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27320760" target="_blank">27320760</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24891491">Thrombocytopaenia with absent radius (not radii).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yanamandra U,
|
||
Sahu KK,
|
||
Malhotra P,
|
||
Varma S</span><br />
|
||
<span class="medgenPMjournal">BMJ Case Rep</span>
|
||
2014 Jun 2;2014
|
||
doi: 10.1136/bcr-2014-204844.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24891491" target="_blank">24891491</a><a href="/pmc/articles/PMC4054107" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22102274">Thrombocytopenia-absent radius syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Toriello HV</span><br />
|
||
<span class="medgenPMjournal">Semin Thromb Hemost</span>
|
||
2011 Sep;37(6):707-12.
|
||
Epub 2011 Nov 18
|
||
doi: 10.1055/s-0031-1291381.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22102274" target="_blank">22102274</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21885665">Thrombocytopenia absent radius syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">de Ybarrondo L,
|
||
Barratt MS</span><br />
|
||
<span class="medgenPMjournal">Pediatr Rev</span>
|
||
2011 Sep;32(9):399-400; discussion 400.
|
||
doi: 10.1542/pir.32-9-399.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21885665" target="_blank">21885665</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Absent%20radius%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 (53)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/21530967">Exacerbation of thrombocytopenia in a pregnant woman with thrombocytopenia-absent radius syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bot-Robin V,
|
||
Vaast P,
|
||
Deruelle P</span><br />
|
||
<span class="medgenPMjournal">Int J Gynaecol Obstet</span>
|
||
2011 Jul;114(1):77-8.
|
||
Epub 2011 Apr 30
|
||
doi: 10.1016/j.ijgo.2011.01.019.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21530967" target="_blank">21530967</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/947152">Cows' milk allergy in the syndrome of thrombocytopenia with absent radius.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Whitfield MF,
|
||
Barr DG</span><br />
|
||
<span class="medgenPMjournal">Arch Dis Child</span>
|
||
1976 May;51(5):337-43.
|
||
doi: 10.1136/adc.51.5.337.
|
||
<span class="bold">PMID: </span><a href="/pubmed/947152" target="_blank">947152</a><a href="/pmc/articles/PMC1545992" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/5061371">The treatment of radial club hand. Absent radius, aplasia of the radius, hypoplasia of the radius, radial paraxial hemimelia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lamb DW</span><br />
|
||
<span class="medgenPMjournal">Hand</span>
|
||
1972 Feb;4(1):22-30.
|
||
doi: 10.1016/0072-968x(72)90004-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/5061371" target="_blank">5061371</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Absent%20radius%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 (3)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39348862">Whole Exome Sequencing Identifies Epithelial and Immune Dysfunction-Related Biomarkers in Food Protein-Induced Enterocolitis Syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Camino-Mera A,
|
||
Pardo-Seco J,
|
||
Bello X,
|
||
Argiz L,
|
||
Boyle RJ,
|
||
Custovic A,
|
||
Herberg J,
|
||
Kaforou M,
|
||
Arasi S,
|
||
Fiocchi A,
|
||
Pecora V,
|
||
Barni S,
|
||
Mori F,
|
||
Bracamonte T,
|
||
Echeverria L,
|
||
O'Valle-Aísa V,
|
||
Hernández-Martínez NL,
|
||
Carballeira I,
|
||
García E,
|
||
Garcia-Magan C,
|
||
Moure-González JD,
|
||
Gonzalez-Delgado P,
|
||
Garriga-Baraut T,
|
||
Infante S,
|
||
Zambrano-Ibarra G,
|
||
Tomás-Pérez M,
|
||
Machinena A,
|
||
Pascal M,
|
||
Prieto A,
|
||
Vázquez-Cortes S,
|
||
Fernández-Rivas M,
|
||
Vila L,
|
||
Alsina L,
|
||
Torres MJ,
|
||
Mangone G,
|
||
Quirce S,
|
||
Martinón-Torres F,
|
||
Vázquez-Ortiz M,
|
||
Gómez-Carballa A,
|
||
Salas A</span><br />
|
||
<span class="medgenPMjournal">Clin Exp Allergy</span>
|
||
2024 Nov;54(11):919-929.
|
||
Epub 2024 Sep 30
|
||
doi: 10.1111/cea.14564.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39348862" target="_blank">39348862</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29464836">The presentation and management of platelet disorders in pregnancy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Goldman BG,
|
||
Hehir MP,
|
||
Yambasu S,
|
||
O'Donnell EM</span><br />
|
||
<span class="medgenPMjournal">Eur J Haematol</span>
|
||
2018 Jun;100(6):560-566.
|
||
Epub 2018 Apr 6
|
||
doi: 10.1111/ejh.13049.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29464836" target="_blank">29464836</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10798094">Tar syndrome with unilateral absent radius and associated esophageal atresia: a variant?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bajaj R,
|
||
Jain M,
|
||
Kasat L,
|
||
Naregal A,
|
||
Borwankar SS</span><br />
|
||
<span class="medgenPMjournal">Indian J Pediatr</span>
|
||
1999 May-Jun;66(3):460-3.
|
||
doi: 10.1007/BF02845541.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10798094" target="_blank">10798094</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9786296">Immunodeficiency in a patient with Baller-Gerold syndrome: a reason for early demise?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Golombek SG,
|
||
Clement LT,
|
||
Begleiter M,
|
||
Truog WE</span><br />
|
||
<span class="medgenPMjournal">South Med J</span>
|
||
1998 Oct;91(10):966-9.
|
||
doi: 10.1097/00007611-199810000-00015.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9786296" target="_blank">9786296</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/7139091">New features of thrombocytopenia and absent radius syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hays RM,
|
||
Bartoshesky LE,
|
||
Feingold M</span><br />
|
||
<span class="medgenPMjournal">Birth Defects Orig Artic Ser</span>
|
||
1982;18(3B):115-21.
|
||
<span class="bold">PMID: </span><a href="/pubmed/7139091" target="_blank">7139091</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Absent%20radius%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 (19)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39348862">Whole Exome Sequencing Identifies Epithelial and Immune Dysfunction-Related Biomarkers in Food Protein-Induced Enterocolitis Syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Camino-Mera A,
|
||
Pardo-Seco J,
|
||
Bello X,
|
||
Argiz L,
|
||
Boyle RJ,
|
||
Custovic A,
|
||
Herberg J,
|
||
Kaforou M,
|
||
Arasi S,
|
||
Fiocchi A,
|
||
Pecora V,
|
||
Barni S,
|
||
Mori F,
|
||
Bracamonte T,
|
||
Echeverria L,
|
||
O'Valle-Aísa V,
|
||
Hernández-Martínez NL,
|
||
Carballeira I,
|
||
García E,
|
||
Garcia-Magan C,
|
||
Moure-González JD,
|
||
Gonzalez-Delgado P,
|
||
Garriga-Baraut T,
|
||
Infante S,
|
||
Zambrano-Ibarra G,
|
||
Tomás-Pérez M,
|
||
Machinena A,
|
||
Pascal M,
|
||
Prieto A,
|
||
Vázquez-Cortes S,
|
||
Fernández-Rivas M,
|
||
Vila L,
|
||
Alsina L,
|
||
Torres MJ,
|
||
Mangone G,
|
||
Quirce S,
|
||
Martinón-Torres F,
|
||
Vázquez-Ortiz M,
|
||
Gómez-Carballa A,
|
||
Salas A</span><br />
|
||
<span class="medgenPMjournal">Clin Exp Allergy</span>
|
||
2024 Nov;54(11):919-929.
|
||
Epub 2024 Sep 30
|
||
doi: 10.1111/cea.14564.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39348862" target="_blank">39348862</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32039779">Discordance of cardiovascular abnormalities in a monozygotic twin pair carrying a class II 1q21.1 microdeletion.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Shi SS,
|
||
Lin SB,
|
||
Cai DL,
|
||
Wen WR,
|
||
Li RM</span><br />
|
||
<span class="medgenPMjournal">Taiwan J Obstet Gynecol</span>
|
||
2020 Jan;59(1):123-126.
|
||
doi: 10.1016/j.tjog.2019.11.019.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32039779" target="_blank">32039779</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26055579">Understanding thrombocytopenia: physiological role of microRNA in survival of neonatal megakaryocytes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kandi R,
|
||
Gutti U,
|
||
Undi R,
|
||
Sahu I,
|
||
Gutti RK</span><br />
|
||
<span class="medgenPMjournal">J Thromb Thrombolysis</span>
|
||
2015 Oct;40(3):310-6.
|
||
doi: 10.1007/s11239-015-1238-y.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26055579" target="_blank">26055579</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22201559">Thrombocytopenia-absent-radius syndrome in a child showing a larger 1q21.1 deletion than the one in his healthy mother, and a significant downregulation of the commonly deleted genes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Guastadisegni MC,
|
||
Roberto R,
|
||
L'Abbate A,
|
||
Palumbo O,
|
||
Carella M,
|
||
Giordani L,
|
||
Cecinati V,
|
||
Giordano P,
|
||
Storlazzi CT</span><br />
|
||
<span class="medgenPMjournal">Eur J Med Genet</span>
|
||
2012 Feb;55(2):120-3.
|
||
Epub 2011 Dec 8
|
||
doi: 10.1016/j.ejmg.2011.11.007.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22201559" target="_blank">22201559</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8739592">Prenatal diagnosis of thrombocytopenia-absent radius syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Boute O,
|
||
Depret-Mosser S,
|
||
Vinatier D,
|
||
Manouvrier S,
|
||
Martin de Lassale E,
|
||
Farriaux JP,
|
||
Monnier JC</span><br />
|
||
<span class="medgenPMjournal">Fetal Diagn Ther</span>
|
||
1996 May-Jun;11(3):224-30.
|
||
doi: 10.1159/000264307.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8739592" target="_blank">8739592</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Absent%20radius%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 (15)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
<div id="messagearea_bottom">
|
||
|
||
</div>
|
||
<div class=" bottom">
|
||
|
||
</div>
|
||
|
||
</div>
|
||
</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
<div>
|
||
|
||
<!-- MedGen supplemental column starts here -->
|
||
<div class="rightCol mgCol">
|
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<div class="portlet mgSection" id="ID_113">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul id="my-toc"></ul></div>
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<div class="portlet mgSection" id="ID_106">
|
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Genetic_Testing_Registry">Genetic Testing Registry</h1><a sid="106" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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||
<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C1405984%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (9)</a></li>
|
||
<li><a href="/gtr/tests?term=C1405984%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (9)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C1405984%5bDISCUI%5d" target="_blank">See all (9)</a></total></li>
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</ul></div>
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</div>
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<div class="portlet mgSection" id="ID_119">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_resources">Clinical resources</h1><a sid="119" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul><li><a href="https://clinicaltrials.gov/search?cond=Absent%20radius" target="_blank">ClinicalTrials.gov</a></li></ul></div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Practice_guidelines">Practice guidelines</h1><a sid="121" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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