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<meta name="keywords" content="C1846950, brachymesophalangy, disproportionately short middle phalanges, finding, hypoplasia of the middle phalanges of the hand, hypoplastic middle phalanges, hypoplastic middle phalanx, midphalangeal hypoplasia, short middle bone of finger, short middle phalanges, short middle phalanx of finger, shortened middle finger bones, autosomal dominant, autosomal recessive, birth defects, chromosomal disease, chromosome, clinical features, clinical findings, clinical genetics, clinical recommendations, clinvar, congenital chromosomal disease, consumer genetic resources, cytogenetic location, disease characteristics, disease definitions, disease descriptions, disease ontology, disease synonyms, disease vocabulary, dysmorphology, entrez, familial disease, gene, gene-disease relationship, genereviews, genetic disease, genetic disorder, genetic terminology, genetic testing registry, genetics home reference, genomic disease, gtr, hereditary disease, heritable disease, hpo, human phenotype ontology, inherited disease, management guidelines, maternal inheritance, medgen, medical genetics, medical subject headings, mesh, mitochondrial inheritance, mode of inheritance, national center for biotechnology information, national institutes of health, national library of medicine, ncbi, nih, nlm, omim, ordo, orphanet, paternal inheritance, phenome, position statements, professional practice guidelines, rare disease, reference sequence, refseq, snomed ct, syndrome, undiagnosed diseases, x-linked recessive" /><meta name="description" content="Short (hypoplastic) middle phalanx of finger, affecting one or more fingers." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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||
UID=337690
|
||
ConceptID=C1846950
|
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-->
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||
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Short middle phalanx of finger</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>337690</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.">C1846950</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>Brachymesophalangy; Hypoplastic middle phalanges; Midphalangeal hypoplasia; Short middle phalanges</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:0005819">HP:0005819</a></td></tr>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">Short (hypoplastic) middle phalanx of finger, affecting one or more fingers. [from <a title="Human Phenotype Ontology" href="http://www.human-phenotype-ontology.org" class="defSource" target="_blank">HPO</a>]</div>
|
||
</div>
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<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=C1846950[DISCUI]&test_type=Clinical" ref="ncbi_uid=337690">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline">Short middle phalanx of finger</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/904271" ref="tree=MeSH" title="MedGen record for Abnormal limb bone morphology">Abnormal limb bone morphology</a></span><ul><li><span class="TLline"><a href="/medgen/763618" ref="tree=MeSH" title="MedGen record for Abnormal digit morphology">Abnormal digit morphology</a></span><ul><li><span class="TLline"><a href="/medgen/436247" ref="tree=MeSH" title="MedGen record for Abnormal finger morphology">Abnormal finger morphology</a></span><ul><li><span class="TLline"><a href="/medgen/867254" ref="tree=MeSH" title="MedGen record for Abnormal finger phalanx morphology">Abnormal finger phalanx morphology</a></span><ul><li><span class="TLline"><a href="/medgen/869762" ref="tree=MeSH" title="MedGen record for Abnormal middle phalanx morphology of the hand">Abnormal middle phalanx morphology of the hand</a></span><ul><li><span class="TLline"><a href="/medgen/354674" ref="tree=MeSH" title="MedGen record for Aplasia/Hypoplasia of the middle phalanges of the hand">Aplasia/Hypoplasia of the middle phalanges of the hand</a></span><ul><li><span class="matched_ds">Short middle phalanx of finger</span><ul><li><span class="TLline"><a href="/medgen/347331" ref="tree=MeSH" title="MedGen record for Shortening of all middle phalanges of the fingers">Shortening of all middle phalanges of the fingers</a></span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
|
||
</div>
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|
||
<div class="portlet mgSection" id="ID_112">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Conditions_with_this_feature">Conditions with this feature</h1><a sid="112" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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||
<div class="portlet_content ln clinfeat">
|
||
<div class="divPopper rprt" id="rdis_78550"><div><strong>Metaphyseal chondrodysplasia, Schmid type</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>78550</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0265289</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Schmid metaphyseal chondrodysplasia (SMCD) is characterized by progressive short stature that develops by age two years. The clinical and radiographic features are usually not present at birth, but manifest in early childhood with short limbs, genu varum, and waddling gait. Facial features and head size are normal. Radiographs show metaphyseal irregularities of the long bones (e.g., splaying, flaring, cupping); shortening of the tubular bones; widened growth plates; coxa vara; and anterior cupping, sclerosis, and splaying of the ribs. Mild hand involvement often includes shortening of the tubular bones and metaphyseal cupping of the metacarpals and proximal phalanges. Platyspondyly and vertebral end plate irregularities are less common. Hand and vertebral involvement can resolve with age. Early motor milestones may be delayed due to orthopedic complications. Intelligence is normal. Joint pain in the knees and hips is common and may limit physical activity. Adult height is typically more than 3.5 standard deviations below the mean, although a wide spectrum that overlaps normal height has been reported. There are no extraskeletal manifestations.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/78550">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_82825"><div><strong>Histidine transport defect</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>82825</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.">C0268642</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A rare disorder of histidine metabolism characterized by histidinuria without histidinemia due to impaired intestinal and renal tubular absorption of histidine. Developmental delay, intellectual disability, seizures, and mild dysmorphic features have been reported in association. There have been no further descriptions in the literature since 1992.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/82825">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_325097"><div><strong>Eiken syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>325097</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.">C1838779</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Eiken syndrome (EKNS) is an autosomal recessive skeletal dysplasia characterized by delayed ossification of bones, epiphyseal dysplasia, and bone remodeling abnormalities. Type A1 brachydactyly (see 112500), supernumerary epiphyses of proximal phalanges and metacarpals, and failure of eruption of primary teeth have also been described. Defining radiologic features include delayed ossification of epiphyses and primary ossification centers of short tubular bones, modeling abnormalities of tubular bones, and angel-shaped phalanges (Jacob et al., 2019). See 603740 for a disorder with similar radiologic features.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/325097">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_326949"><div><strong>Skeletal dysplasia-intellectual disability syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>326949</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.">C1839729</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">This syndrome combines skeletal anomalies (short stature, ridging of the metopic suture, fusion of cervical vertebrae, thoracic hemivertebrae, scoliosis, sacral hypoplasia and short middle phalanges) and mild intellectual deficit. It has been described in four male cousins in three sibships. Glucose intolerance was present in three cases, and imperforated anus in one case. Carrier females had minor manifestations (fusion of cervical vertebrae and glucose intolerance). Transmission seems to be X-linked.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/326949">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_333883"><div><strong>Heart-hand syndrome type 3</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>333883</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.">C1841657</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A very rare type of heart-hand syndrome described in three members of a Spanish family to date. The syndrome has characteristics of cardiac conduction defect (sick sinus, bundle-branch block) and brachydactyly, resembling brachydactyly type C of the hands, affecting principally the middle phalanges in conjunction with an extra ossicle on the proximal phalanx of both index fingers. Feet abnormalities are more subtle.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/333883">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_334681"><div><strong>Acrocapitofemoral dysplasia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>334681</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1843096</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Acrocapitofemoral dysplasia (ACFD) is an autosomal recessive skeletal dysplasia characterized by postnatal-onset disproportionate short stature, relatively large head, narrow thorax, lumbar lordosis, short limbs, and brachydactyly with small broad nails (Ozyavuz Cubuk and Duz, 2021).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/334681">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_339652"><div><strong>Brachydactyly type A1B</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>339652</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.">C1846949</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/339652">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_376067"><div><strong>Symphalangism, distal, with microdontia, dental pulp stones, and narrowed zygomatic arch</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>376067</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.">C1847185</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/376067">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_335678"><div><strong>Familial digital arthropathy-brachydactyly</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>335678</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.">C1847406</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The autosomal dominant TRPV4 disorders (previously considered to be clinically distinct phenotypes before their molecular basis was discovered) are now grouped into neuromuscular disorders and skeletal dysplasias; however, the overlap within each group is considerable. Affected individuals typically have either neuromuscular or skeletal manifestations alone, and in only rare instances an overlap syndrome has been reported. The three autosomal dominant neuromuscular disorders (mildest to most severe) are: Charcot-Marie-Tooth disease type 2C. Scapuloperoneal spinal muscular atrophy. Congenital distal spinal muscular atrophy. The autosomal dominant neuromuscular disorders are characterized by a congenital-onset, static, or later-onset progressive peripheral neuropathy with variable combinations of laryngeal dysfunction (i.e., vocal fold paresis), respiratory dysfunction, and joint contractures. The six autosomal dominant skeletal dysplasias (mildest to most severe) are: Familial digital arthropathy-brachydactyly. Autosomal dominant brachyolmia. Spondylometaphyseal dysplasia, Kozlowski type. Spondyloepiphyseal dysplasia, Maroteaux type. Parastremmatic dysplasia. Metatropic dysplasia. The skeletal dysplasia is characterized by brachydactyly (in all 6); the five that are more severe have short stature that varies from mild to severe with progressive spinal deformity and involvement of the long bones and pelvis. In the mildest of the autosomal dominant TRPV4 disorders life span is normal; in the most severe it is shortened. Bilateral progressive sensorineural hearing loss (SNHL) can occur with both autosomal dominant neuromuscular disorders and skeletal dysplasias.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/335678">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_341455"><div><strong>Saldino-Mainzer syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>341455</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.">C1849437</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by Huber and Cormier-Daire, 2012 and Schmidts et al., 2013). There is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, 218330). For a discussion of genetic heterogeneity of short-rib thoracic dysplasia, see SRTD1 (208500).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/341455">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_338072"><div><strong>Atelosteogenesis type II</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>338072</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.">C1850554</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Clinical features of SLC26A2-related atelosteogenesis include rhizomelic limb shortening with normal-sized skull, hitchhiker thumbs, small chest, protuberant abdomen, cleft palate, and distinctive facial features (midface retrusion, depressed nasal bridge, epicanthus, micrognathia). Other typical findings are ulnar deviation of the fingers, gap between the first and second toes, and clubfoot. SLC26A2-related atelosteogenesis is usually lethal at birth or shortly thereafter due to pulmonary hypoplasia and tracheobronchomalacia. However, it exists in a continuous phenotypic spectrum with SLC26A2-related diastrophic dysplasia, and long-term survivors have been reported.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/338072">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_340266"><div><strong>Wiedemann-Steiner syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>340266</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.">C1854630</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Wiedemann-Steiner syndrome (WSS) is characterized by developmental delay, intellectual disability, and characteristic facial features, with or without additional congenital anomalies. The facial features include thick eyebrows with lateral flare, vertically narrow and downslanted palpebral fissures, widely spaced eyes, long eyelashes, wide nasal bridge, broad nasal tip, thin vermilion of the upper lip, and thick scalp hair. About 60% of affected individuals have hypertrichosis cubiti ("hairy elbows"), which was once thought to be pathognomic for the syndrome, with a majority having hypertrichosis of other body parts. Other clinical features include feeding difficulties, prenatal and postnatal growth restriction, epilepsy, ophthalmologic anomalies, congenital heart defects, hand anomalies (such as brachydactyly and clinodactyly), hypotonia, vertebral anomalies (especially fusion anomalies of the cervical spine), renal and uterine anomalies, immune dysfunction, brain malformations, and dental anomalies.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/340266">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_349432"><div><strong>Brachydactyly type B1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>349432</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.">C1862112</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A rare subtype of brachydactyly type B characterized by hypoplasia or aplasia of the distal phalanges of digits 2-5 with or without nail dysplasia, in association with fusion of the middle and distal phalanges, a broad or bifid thumb, and occasionally distal and proximal symphalangism or syndactyly. The feet are less severely affected than the hands.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/349432">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_355217"><div><strong>Muenke syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>355217</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.">C1864436</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Muenke syndrome is characterized by considerable phenotypic variability; features may include coronal synostosis (more often bilateral than unilateral); synostosis of other sutures, all sutures (pan synostosis), or no sutures; or macrocephaly. Bilateral coronal synostosis typically results in brachycephaly, although turribrachycephaly (a "tower-shaped" skull) or a cloverleaf skull can be observed. Unilateral coronal synostosis results in anterior plagiocephaly. Other craniofacial findings typically include temporal bossing, widely spaced eyes, ptosis or mild proptosis, mild midface retrusion, and highly arched palate or cleft lip and palate. Strabismus is common. Other findings can include hearing loss, developmental delay, intellectual disability, behavioral issues, intracranial anomalies, epilepsy, ocular anomalies, brachydactyly, carpal and/or tarsal bone fusions, broad thumbs and great toes, clinodactyly, and radiographic findings of short and broad middle phalanges and/or cone-shaped epiphyses. Of note, some individuals who have the p.Pro250Arg pathogenic variant may have no signs of Muenke syndrome on physical or radiographic examination.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/355217">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_355268"><div><strong>Microphthalmia with brain and digit anomalies</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>355268</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.">C1864689</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">This syndrome has characteristics of anophthalmia or microphthalmia, retinal dystrophy, and/or myopia, associated in some cases with cerebral anomalies. It has been described in two families. Polydactyly may also be present. Linkage analysis allowed identification of mutations in the BMP4 gene, which has already been shown to play a role in eye development.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/355268">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_356650"><div><strong>Skeletal dysplasia with delayed epiphyseal and carpal bone ossification</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>356650</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.">C1866939</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/356650">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_409857"><div><strong>Intellectual disability, autosomal dominant 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>409857</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.">C1969562</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
|
||
<div class="spaceAbove">MBD5 haploinsufficiency is a neurodevelopmental disorder characterized by developmental delay, intellectual disability, severe speech impairment, seizures, sleep disturbances, and abnormal behaviors. Most children lack speech entirely or have single words, short phrases, or short sentences. Seizures are present in more than 80% of children; onset is usually around age two years. Sleep disturbances, present in about 90%, can result in excessive daytime drowsiness. Abnormal behaviors can include autistic-like behaviors (80%) and self-injury and aggression (>60%).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/409857">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_390804"><div><strong>Chromosome 15q26-qter deletion syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>390804</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.">C2675463</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Distal monosomy 15q is a rare chromosomal anomaly syndrome characterized by pre- and postnatal growth restriction, developmental delay, variable degrees of intellectual disability, hand and foot anomalies (e.g. brachy-/clinodactyly, talipes equinovarus, nail hypoplasia, proximally placed digits) and mild craniofacial dysmorphism (incl. microcephaly, triangular face, broad nasal bridge, micrognathia). Neonatal lymphedema, heart malformations, aplasia cutis congenita, aortic root dilatation, and autistic spectrum disorder have also been reported.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/390804">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_462537"><div><strong>Seckel syndrome 5</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>462537</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.">C3151187</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Seckel syndrome is an autosomal recessive disorder characterized by proportionate short stature, severe microcephaly, mental retardation, and a typical 'bird-head' facial appearance (summary by Kalay et al., 2011). For a general phenotypic description and a discussion of genetic heterogeneity of Seckel syndrome, see 210600.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/462537">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_481812"><div><strong>Adams-Oliver syndrome 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>481812</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.">C3280182</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Adams-Oliver syndrome-2 (AOS2) is an autosomal recessive multiple congenital anomaly syndrome characterized by aplasia cutis congenita (ACC) and terminal transverse limb defects, in association with variable involvement of the brain, eyes, and cardiovascular systems (summary by Shaheen et al., 2011). For a discussion of genetic heterogeneity of Adams-Oliver syndrome, see AOS1 (100300).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/481812">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_905079"><div><strong>Meier-Gorlin syndrome 6</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>905079</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.">C4225188</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Any Meier-Gorlin syndrome in which the cause of the disease is a mutation in the GMNN gene.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/905079">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_930741"><div><strong>X-linked intellectual disability, van Esch type</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>930741</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.">C4305072</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Van Esch-O'Driscoll syndrome (VEODS) is characterized by varying degrees of intellectual disability, moderate to severe short stature, microcephaly, hypogonadism, and variable congenital malformations (Van Esch et al., 2019).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/930741">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1637716"><div><strong>Feingold syndrome type 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1637716</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.">C4551774</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Feingold syndrome 1 (referred to as FS1 in this GeneReview) is characterized by digital anomalies (shortening of the 2nd and 5th middle phalanx of the hand, clinodactyly of the 5th finger, syndactyly of toes 2-3 and/or 4-5, thumb hypoplasia), microcephaly, facial dysmorphism (short palpebral fissures and micrognathia), gastrointestinal atresias (primarily esophageal and/or duodenal), and mild-to-moderate learning disability.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1637716">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1718444"><div><strong>Anauxetic dysplasia 3</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1718444</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.">C5394289</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Anauxetic dysplasia-3 (ANXD3) is characterized by severe short stature, brachydactyly, skin laxity, joint hypermobility, and joint dislocations. Radiographs show short metacarpals, broad middle phalanges, and metaphyseal irregularities. Most patients also exhibit motor and cognitive delays (Narayanan et al., 2019). For a discussion of genetic heterogeneity of anauxetic dysplasia, see ANXD1 (607095).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1718444">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1799326"><div><strong>Orofaciodigital syndrome 18</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1799326</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.">C5567903</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Orofaciodigital syndrome XVIII (OFD18) is characterized by short stature, brachymesophalangy, pre- and postaxial polysyndactyly, and stocky femoral necks, as well as oral anomalies and dysmorphic facial features (Thevenon et al., 2016).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1799326">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1855924"><div><strong>Megalencephaly-polydactyly syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1855924</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.">C5935591</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Megalencephaly-polydactyly syndrome (MPAPA) is an autosomal dominant disorder characterized by megalencephaly, ventriculomegaly, postaxial polydactyly, and, notably, neuroblastoma during infancy (summary by Nishio et al., 2023).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1855924">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_334681" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Acrocapitofemoral dysplasia</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_481812" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Adams-Oliver syndrome 2</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1718444" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Anauxetic dysplasia 3</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_338072" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Atelosteogenesis type II</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_339652" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Brachydactyly type A1B</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (27)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_349432" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Brachydactyly type B1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_390804" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Chromosome 15q26-qter deletion syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_325097" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Eiken syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_335678" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Familial digital arthropathy-brachydactyly</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1637716" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Feingold syndrome type 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_333883" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Heart-hand syndrome type 3</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_82825" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Histidine transport defect</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_409857" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Intellectual disability, autosomal dominant 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1855924" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Megalencephaly-polydactyly syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_905079" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Meier-Gorlin syndrome 6</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_78550" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Metaphyseal chondrodysplasia, Schmid type</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_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_355268" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Microphthalmia with brain and digit anomalies</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_355217" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Muenke syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1799326" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Orofaciodigital syndrome 18</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_341455" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Saldino-Mainzer syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_462537" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Seckel syndrome 5</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_356650" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Skeletal dysplasia with delayed epiphyseal and carpal bone ossification</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_326949" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Skeletal dysplasia-intellectual disability syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_376067" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Symphalangism, distal, with microdontia, dental pulp stones, and narrowed zygomatic arch</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_340266" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Wiedemann-Steiner syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_930741" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">X-linked intellectual disability, van Esch 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>
|
||
<div class="nl"><a target="_blank" href="/pubmed/29055495">Cemented K-wire fixation for the treatment of shaft fractures of middle phalanges.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zhang X,
|
||
Shao X,
|
||
Zhang Z,
|
||
Zhang G,
|
||
Yu Y,
|
||
Wang L,
|
||
Lyu L</span><br />
|
||
<span class="medgenPMjournal">Injury</span>
|
||
2018 Feb;49(2):351-358.
|
||
Epub 2017 Oct 9
|
||
doi: 10.1016/j.injury.2017.10.012.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29055495" target="_blank">29055495</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23019779">Treatment of fractures of the proximal phalanx of long fingers with an isometric traction splint.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Goorens CK,
|
||
Van Hoonacker P,
|
||
Kerckhove D,
|
||
Berghs B,
|
||
Goubau J</span><br />
|
||
<span class="medgenPMjournal">Acta Orthop Belg</span>
|
||
2012 Aug;78(4):473-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23019779" target="_blank">23019779</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8040207">Physeal and periphyseal injuries of the hand. Patterns of injury and results of treatment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fischer MD,
|
||
McElfresh EC</span><br />
|
||
<span class="medgenPMjournal">Hand Clin</span>
|
||
1994 May;10(2):287-301.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8040207" target="_blank">8040207</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(short%20middle%20phalanx%20of%20finger)%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 (3)</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/37770926">Double-pivot proper digital artery perforator flap for fingertip reconstruction.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Liu B,
|
||
Pan D,
|
||
Gao Z,
|
||
Duan P,
|
||
Ou Q</span><br />
|
||
<span class="medgenPMjournal">J Orthop Surg Res</span>
|
||
2023 Sep 28;18(1):737.
|
||
doi: 10.1186/s13018-023-04231-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37770926" target="_blank">37770926</a><a href="/pmc/articles/PMC10540400" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30428786">The Acute Management of Unstable Intra-Articular Fractures of the Base of the Middle Phalanx: A Systematic Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hamilton LC</span><br />
|
||
<span class="medgenPMjournal">J Hand Surg Asian Pac Vol</span>
|
||
2018 Dec;23(4):441-449.
|
||
doi: 10.1142/S2424835518300037.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30428786" target="_blank">30428786</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29055495">Cemented K-wire fixation for the treatment of shaft fractures of middle phalanges.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zhang X,
|
||
Shao X,
|
||
Zhang Z,
|
||
Zhang G,
|
||
Yu Y,
|
||
Wang L,
|
||
Lyu L</span><br />
|
||
<span class="medgenPMjournal">Injury</span>
|
||
2018 Feb;49(2):351-358.
|
||
Epub 2017 Oct 9
|
||
doi: 10.1016/j.injury.2017.10.012.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29055495" target="_blank">29055495</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23019779">Treatment of fractures of the proximal phalanx of long fingers with an isometric traction splint.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Goorens CK,
|
||
Van Hoonacker P,
|
||
Kerckhove D,
|
||
Berghs B,
|
||
Goubau J</span><br />
|
||
<span class="medgenPMjournal">Acta Orthop Belg</span>
|
||
2012 Aug;78(4):473-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23019779" target="_blank">23019779</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16843800">Malunions of the finger metacarpals and phalanges.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Freeland AE,
|
||
Lindley SG</span><br />
|
||
<span class="medgenPMjournal">Hand Clin</span>
|
||
2006 Aug;22(3):341-55.
|
||
doi: 10.1016/j.hcl.2006.03.001.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16843800" target="_blank">16843800</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Short%20middle%20phalanx%20of%20finger%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 (39)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36073773">Hypothesis: Symbrachydactyly.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Holmes LB,
|
||
Nasri HZ</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2022 Nov;188(11):3236-3241.
|
||
Epub 2022 Sep 8
|
||
doi: 10.1002/ajmg.a.62941.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36073773" target="_blank">36073773</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34577873">Acrometastases to the Hand: A Systematic Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Umana GE,
|
||
Scalia G,
|
||
Palmisciano P,
|
||
Passanisi M,
|
||
Da Ros V,
|
||
Pompili G,
|
||
Barone F,
|
||
Amico P,
|
||
Tomasi SO,
|
||
Graziano F,
|
||
Patti IV,
|
||
Mele S,
|
||
Maugeri R,
|
||
Raffa G,
|
||
Giammalva GR,
|
||
Iacopino GD,
|
||
Germanò A,
|
||
Nicoletti GF,
|
||
Ippolito M,
|
||
Sabini MG,
|
||
Cicero S,
|
||
Strigari L,
|
||
Cuttone G</span><br />
|
||
<span class="medgenPMjournal">Medicina (Kaunas)</span>
|
||
2021 Sep 9;57(9)
|
||
doi: 10.3390/medicina57090950.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34577873" target="_blank">34577873</a><a href="/pmc/articles/PMC8471162" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32311039">Clinical and Molecular Description of 16 Families With Heterozygous IHH Variants.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sentchordi-Montané L,
|
||
Benito-Sanz S,
|
||
Aza-Carmona M,
|
||
Pereda A,
|
||
Parrón-Pajares M,
|
||
de la Torre C,
|
||
Vasques GA,
|
||
Funari MFA,
|
||
Travessa AM,
|
||
Dias P,
|
||
Suarez-Ortega L,
|
||
González-Buitrago J,
|
||
Portillo-Najera NE,
|
||
Llano-Rivas I,
|
||
Martín-Frías M,
|
||
Ramírez-Fernández J,
|
||
Sánchez Del Pozo J,
|
||
Garzón-Lorenzo L,
|
||
Martos-Moreno GA,
|
||
Alfaro-Iznaola C,
|
||
Mulero-Collantes I,
|
||
Ruiz-Ocaña P,
|
||
Casano-Sancho P,
|
||
Portela A,
|
||
Ruiz-Pérez L,
|
||
Del Pozo A,
|
||
Vallespín E,
|
||
Solís M,
|
||
Lerario AM,
|
||
González-Casado I,
|
||
Ros-Pérez P,
|
||
Pérez de Nanclares G,
|
||
Jorge AAL,
|
||
Heath KE</span><br />
|
||
<span class="medgenPMjournal">J Clin Endocrinol Metab</span>
|
||
2020 Aug 1;105(8)
|
||
doi: 10.1210/clinem/dgaa218.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32311039" target="_blank">32311039</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25682110">Comparison of treatment of oblique and spiral metacarpal and phalangeal fractures with mini plate plus screw or screw only.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Başar H,
|
||
Başar B,
|
||
Başçı O,
|
||
Topkar OM,
|
||
Erol B,
|
||
Tetik C</span><br />
|
||
<span class="medgenPMjournal">Arch Orthop Trauma Surg</span>
|
||
2015 Apr;135(4):499-504.
|
||
Epub 2015 Feb 15
|
||
doi: 10.1007/s00402-015-2164-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25682110" target="_blank">25682110</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17135008">Magnetic resonance imaging and radiographic findings of seal finger.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Marjelund S,
|
||
Tikkakoski T,
|
||
Isokangas M,
|
||
Räisänen S</span><br />
|
||
<span class="medgenPMjournal">Acta Radiol</span>
|
||
2006 Dec;47(10):1058-62.
|
||
doi: 10.1080/02841850600919259.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17135008" target="_blank">17135008</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Short%20middle%20phalanx%20of%20finger%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 (29)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35703249">Finger Reconstruction With Distally Based Dorsal Metacarpal Flaps: A Systematic Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Shimbo K,
|
||
Kawamoto H,
|
||
Koshima I</span><br />
|
||
<span class="medgenPMjournal">Ann Plast Surg</span>
|
||
2022 Nov 1;89(5):573-580.
|
||
Epub 2022 May 28
|
||
doi: 10.1097/SAP.0000000000003208.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35703249" target="_blank">35703249</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30428786">The Acute Management of Unstable Intra-Articular Fractures of the Base of the Middle Phalanx: A Systematic Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hamilton LC</span><br />
|
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<span class="medgenPMjournal">J Hand Surg Asian Pac Vol</span>
|
||
2018 Dec;23(4):441-449.
|
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doi: 10.1142/S2424835518300037.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30428786" target="_blank">30428786</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29155992">IHH Gene Mutations Causing Short Stature With Nonspecific Skeletal Abnormalities and Response to Growth Hormone Therapy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Vasques GA,
|
||
Funari MFA,
|
||
Ferreira FM,
|
||
Aza-Carmona M,
|
||
Sentchordi-Montané L,
|
||
Barraza-García J,
|
||
Lerario AM,
|
||
Yamamoto GL,
|
||
Naslavsky MS,
|
||
Duarte YAO,
|
||
Bertola DR,
|
||
Heath KE,
|
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Jorge AAL</span><br />
|
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<span class="medgenPMjournal">J Clin Endocrinol Metab</span>
|
||
2018 Feb 1;103(2):604-614.
|
||
doi: 10.1210/jc.2017-02026.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29155992" target="_blank">29155992</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17135008">Magnetic resonance imaging and radiographic findings of seal finger.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Marjelund S,
|
||
Tikkakoski T,
|
||
Isokangas M,
|
||
Räisänen S</span><br />
|
||
<span class="medgenPMjournal">Acta Radiol</span>
|
||
2006 Dec;47(10):1058-62.
|
||
doi: 10.1080/02841850600919259.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17135008" target="_blank">17135008</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16843800">Malunions of the finger metacarpals and phalanges.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Freeland AE,
|
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Lindley SG</span><br />
|
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<span class="medgenPMjournal">Hand Clin</span>
|
||
2006 Aug;22(3):341-55.
|
||
doi: 10.1016/j.hcl.2006.03.001.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16843800" target="_blank">16843800</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Short%20middle%20phalanx%20of%20finger%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 (14)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/34577873">Acrometastases to the Hand: A Systematic Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Umana GE,
|
||
Scalia G,
|
||
Palmisciano P,
|
||
Passanisi M,
|
||
Da Ros V,
|
||
Pompili G,
|
||
Barone F,
|
||
Amico P,
|
||
Tomasi SO,
|
||
Graziano F,
|
||
Patti IV,
|
||
Mele S,
|
||
Maugeri R,
|
||
Raffa G,
|
||
Giammalva GR,
|
||
Iacopino GD,
|
||
Germanò A,
|
||
Nicoletti GF,
|
||
Ippolito M,
|
||
Sabini MG,
|
||
Cicero S,
|
||
Strigari L,
|
||
Cuttone G</span><br />
|
||
<span class="medgenPMjournal">Medicina (Kaunas)</span>
|
||
2021 Sep 9;57(9)
|
||
doi: 10.3390/medicina57090950.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34577873" target="_blank">34577873</a><a href="/pmc/articles/PMC8471162" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29155992">IHH Gene Mutations Causing Short Stature With Nonspecific Skeletal Abnormalities and Response to Growth Hormone Therapy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Vasques GA,
|
||
Funari MFA,
|
||
Ferreira FM,
|
||
Aza-Carmona M,
|
||
Sentchordi-Montané L,
|
||
Barraza-García J,
|
||
Lerario AM,
|
||
Yamamoto GL,
|
||
Naslavsky MS,
|
||
Duarte YAO,
|
||
Bertola DR,
|
||
Heath KE,
|
||
Jorge AAL</span><br />
|
||
<span class="medgenPMjournal">J Clin Endocrinol Metab</span>
|
||
2018 Feb 1;103(2):604-614.
|
||
doi: 10.1210/jc.2017-02026.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29155992" target="_blank">29155992</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29055495">Cemented K-wire fixation for the treatment of shaft fractures of middle phalanges.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zhang X,
|
||
Shao X,
|
||
Zhang Z,
|
||
Zhang G,
|
||
Yu Y,
|
||
Wang L,
|
||
Lyu L</span><br />
|
||
<span class="medgenPMjournal">Injury</span>
|
||
2018 Feb;49(2):351-358.
|
||
Epub 2017 Oct 9
|
||
doi: 10.1016/j.injury.2017.10.012.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29055495" target="_blank">29055495</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25271638">Effects of predictability of load magnitude on the response of the Flexor Digitorum Superficialis to a sudden fingers extension.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Aimola E,
|
||
Valle MS,
|
||
Casabona A</span><br />
|
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<span class="medgenPMjournal">PLoS One</span>
|
||
2014;9(10):e109067.
|
||
Epub 2014 Oct 1
|
||
doi: 10.1371/journal.pone.0109067.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25271638" target="_blank">25271638</a><a href="/pmc/articles/PMC4182945" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9425502">Precision and accuracy of computed digital absorptiometry for assessment of bone density of the hand.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bouxsein ML,
|
||
Michaeli DA,
|
||
Plass DB,
|
||
Schick DA,
|
||
Melton ME</span><br />
|
||
<span class="medgenPMjournal">Osteoporos Int</span>
|
||
1997;7(5):444-9.
|
||
doi: 10.1007/s001980050031.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9425502" target="_blank">9425502</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Short%20middle%20phalanx%20of%20finger%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/33928851">Finger Rescue Using the Induced Membrane Technique for Osteomyelitis of the Hand.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Toyama T,
|
||
Hamada Y,
|
||
Horii E,
|
||
Kinoshita R,
|
||
Saito T</span><br />
|
||
<span class="medgenPMjournal">J Hand Surg Asian Pac Vol</span>
|
||
2021 Jun;26(2):235-239.
|
||
doi: 10.1142/S2424835521500247.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33928851" target="_blank">33928851</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33928848">Intramedullary Cannulated Compression Screws for Extra-Articular Phalangeal Fractures.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Reid AWN,
|
||
Sood MK</span><br />
|
||
<span class="medgenPMjournal">J Hand Surg Asian Pac Vol</span>
|
||
2021 Jun;26(2):180-187.
|
||
doi: 10.1142/S2424835521500168.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33928848" target="_blank">33928848</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32311039">Clinical and Molecular Description of 16 Families With Heterozygous IHH Variants.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sentchordi-Montané L,
|
||
Benito-Sanz S,
|
||
Aza-Carmona M,
|
||
Pereda A,
|
||
Parrón-Pajares M,
|
||
de la Torre C,
|
||
Vasques GA,
|
||
Funari MFA,
|
||
Travessa AM,
|
||
Dias P,
|
||
Suarez-Ortega L,
|
||
González-Buitrago J,
|
||
Portillo-Najera NE,
|
||
Llano-Rivas I,
|
||
Martín-Frías M,
|
||
Ramírez-Fernández J,
|
||
Sánchez Del Pozo J,
|
||
Garzón-Lorenzo L,
|
||
Martos-Moreno GA,
|
||
Alfaro-Iznaola C,
|
||
Mulero-Collantes I,
|
||
Ruiz-Ocaña P,
|
||
Casano-Sancho P,
|
||
Portela A,
|
||
Ruiz-Pérez L,
|
||
Del Pozo A,
|
||
Vallespín E,
|
||
Solís M,
|
||
Lerario AM,
|
||
González-Casado I,
|
||
Ros-Pérez P,
|
||
Pérez de Nanclares G,
|
||
Jorge AAL,
|
||
Heath KE</span><br />
|
||
<span class="medgenPMjournal">J Clin Endocrinol Metab</span>
|
||
2020 Aug 1;105(8)
|
||
doi: 10.1210/clinem/dgaa218.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32311039" target="_blank">32311039</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29055495">Cemented K-wire fixation for the treatment of shaft fractures of middle phalanges.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zhang X,
|
||
Shao X,
|
||
Zhang Z,
|
||
Zhang G,
|
||
Yu Y,
|
||
Wang L,
|
||
Lyu L</span><br />
|
||
<span class="medgenPMjournal">Injury</span>
|
||
2018 Feb;49(2):351-358.
|
||
Epub 2017 Oct 9
|
||
doi: 10.1016/j.injury.2017.10.012.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29055495" target="_blank">29055495</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25682110">Comparison of treatment of oblique and spiral metacarpal and phalangeal fractures with mini plate plus screw or screw only.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Başar H,
|
||
Başar B,
|
||
Başçı O,
|
||
Topkar OM,
|
||
Erol B,
|
||
Tetik C</span><br />
|
||
<span class="medgenPMjournal">Arch Orthop Trauma Surg</span>
|
||
2015 Apr;135(4):499-504.
|
||
Epub 2015 Feb 15
|
||
doi: 10.1007/s00402-015-2164-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25682110" target="_blank">25682110</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Short%20middle%20phalanx%20of%20finger%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 (43)</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_104">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">
|
||
<div class="nl"><a target="_blank" href="/pubmed/35703249">Finger Reconstruction With Distally Based Dorsal Metacarpal Flaps: A Systematic Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Shimbo K,
|
||
Kawamoto H,
|
||
Koshima I</span><br />
|
||
<span class="medgenPMjournal">Ann Plast Surg</span>
|
||
2022 Nov 1;89(5):573-580.
|
||
Epub 2022 May 28
|
||
doi: 10.1097/SAP.0000000000003208.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35703249" target="_blank">35703249</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34577873">Acrometastases to the Hand: A Systematic Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Umana GE,
|
||
Scalia G,
|
||
Palmisciano P,
|
||
Passanisi M,
|
||
Da Ros V,
|
||
Pompili G,
|
||
Barone F,
|
||
Amico P,
|
||
Tomasi SO,
|
||
Graziano F,
|
||
Patti IV,
|
||
Mele S,
|
||
Maugeri R,
|
||
Raffa G,
|
||
Giammalva GR,
|
||
Iacopino GD,
|
||
Germanò A,
|
||
Nicoletti GF,
|
||
Ippolito M,
|
||
Sabini MG,
|
||
Cicero S,
|
||
Strigari L,
|
||
Cuttone G</span><br />
|
||
<span class="medgenPMjournal">Medicina (Kaunas)</span>
|
||
2021 Sep 9;57(9)
|
||
doi: 10.3390/medicina57090950.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34577873" target="_blank">34577873</a><a href="/pmc/articles/PMC8471162" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33928848">Intramedullary Cannulated Compression Screws for Extra-Articular Phalangeal Fractures.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Reid AWN,
|
||
Sood MK</span><br />
|
||
<span class="medgenPMjournal">J Hand Surg Asian Pac Vol</span>
|
||
2021 Jun;26(2):180-187.
|
||
doi: 10.1142/S2424835521500168.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33928848" target="_blank">33928848</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30428786">The Acute Management of Unstable Intra-Articular Fractures of the Base of the Middle Phalanx: A Systematic Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hamilton LC</span><br />
|
||
<span class="medgenPMjournal">J Hand Surg Asian Pac Vol</span>
|
||
2018 Dec;23(4):441-449.
|
||
doi: 10.1142/S2424835518300037.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30428786" target="_blank">30428786</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Short%20middle%20phalanx%20of%20finger%22%20AND%20systematic%5Bsb%5D%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (4)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
<div id="messagearea_bottom">
|
||
|
||
</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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|
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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>
|
||
<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C1846950%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (2)</a></li>
|
||
<li><a href="/gtr/tests?term=C1846950%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (2)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C1846950%5bDISCUI%5d" target="_blank">See all (2)</a></total></li>
|
||
</ul></div>
|
||
</div>
|
||
|
||
<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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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=1" href="/portal/utils/pageresolver.fcgi?recordid=67d4c134cde49f3df76b44c4">Short middle phalanx of finger</a>
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