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<!--
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||
UID=350011
|
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ConceptID=C1861349
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Absent distal interphalangeal creases</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>350011</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.">C1861349</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
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<td>Absent distal flexion creases (fingers)</td></tr>
|
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<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:0001032">HP:0001032</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>
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||
<div class="portlet_content ln">Absence of the distal interphalangeal flexion creases of the fingers. [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 unavailable round" title="Clinical test">C</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">Absent distal interphalangeal creases</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/868065" ref="tree=MeSH" title="MedGen record for Abnormality of limb bone">Abnormality of limb bone</a></span><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/347157" ref="tree=MeSH" title="MedGen record for Abnormal finger flexion crease">Abnormal finger flexion crease</a></span><ul><li><span class="TLline"><a href="/medgen/349522" ref="tree=MeSH" title="MedGen record for Absent phalangeal crease">Absent phalangeal crease</a></span><ul><li><span class="matched_ds">Absent distal interphalangeal creases</span><ul><li><span class="TLline"><a href="/medgen/867261" ref="tree=MeSH" title="MedGen record for Absent fourth finger distal interphalangeal crease">Absent fourth finger distal interphalangeal crease</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>
|
||
<div class="portlet_content ln clinfeat">
|
||
<div class="divPopper rprt" id="rdis_10257"><div><strong>Nail-patella syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>10257</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.">C0027341</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Nail-patella syndrome (NPS) (previously referred to as Fong's disease), encompasses the classic clinical tetrad of changes in the nails, knees, and elbows, and the presence of iliac horns. Nail changes are the most constant feature of NPS. Nails may be absent, hypoplastic, or dystrophic; ridged longitudinally or horizontally; pitted; discolored; separated into two halves by a longitudinal cleft or ridge of skin; and thin or (less often) thickened. The patellae may be small, irregularly shaped, or absent. Elbow abnormalities may include limitation of extension, pronation, and supination; cubitus valgus; and antecubital pterygia. Iliac horns are bilateral, conical, bony processes that project posteriorly and laterally from the central part of the iliac bones of the pelvis. Renal involvement, first manifest as proteinuria with or without hematuria, occurs in 30%-50% of affected individuals; end-stage kidney disease occurs up to 15% of affected individuals. Primary open-angle glaucoma and ocular hypertension occur at increased frequency and at a younger age than in the general population.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/10257">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_113099"><div><strong>Arthrogryposis, distal, type 1A</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>113099</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.">C0220662</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Distal arthrogryposis type 1 is a disorder characterized by joint deformities (contractures) that restrict movement in the hands and feet. The term "arthrogryposis" comes from the Greek words for joint (arthro-) and crooked or hooked (gryposis). The characteristic features of this condition include permanently bent fingers and toes (camptodactyly), overlapping fingers, and a hand deformity in which all of the fingers are angled outward toward the fifth finger (ulnar deviation). Clubfoot, which is an inward- and upward-turning foot, is also commonly seen with distal arthrogryposis type 1. The specific hand and foot abnormalities vary among affected individuals. However, this condition typically does not cause any signs and symptoms affecting other parts of the body.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/113099">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_350010"><div><strong>Syndactyly type 5</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>350010</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.">C1861348</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A very rare congenital limb malformation with characteristics of postaxial syndactyly of hands and feet, associated with metacarpal and metatarsal fusion of fourth and fifth digits. So far, less than ten reports have been described in the literature. Soft tissue syndactyly (involving the third and fourth fingers and the second and third toes) may be present. The locus associated with SD5 maps to 2q31-q32. Mutations in the HOXD13 gene may be causative. The condition is inherited as an autosomal dominant trait.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/350010">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_354673"><div><strong>Brachydactyly type A1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>354673</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.">C1862151</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Brachydactyly type A1 (BDA1) is an autosomal dominant disorder characterized by shortening of the middle phalanges of the digits of the hand, with or without symphalangism. Mild short stature is often present. Considerable inter- and intrafamilial variability has been observed, with all or only some digits affected, and complete absence of the middle phalanx in some cases. Metacarpals may also be shortened, and clinodactyly, camptodactyly, and ulnar deviation have been reported. Some patients exhibit abnormalities of the feet (Zhu et al., 2007; Lodder et al., 2008; Byrnes et al., 2009; Vasques et al., 2018). Genetic Heterogeneity of Brachydactyly Type A1 BDA1B (607004) has been mapped to chromosome 5. BDA1C (615072) is caused by mutation in the GDF5 gene (601146) on chromosome 20q11. BDA1D (616849) is caused by mutation in the BMPR1B gene (603248) on chromosome 4q22.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/354673">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1847896"><div><strong>Arthrogryposis, distal, type 12</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1847896</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.">C5882704</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Distal arthrogryposis type 12 (DA12) is characterized by congenital contractures, primarily affecting the small joints of the fingers and toes. Additional features include contractures of the knees and Achilles tendons, spinal stiffness, scoliosis, and orthodontic abnormalities. Radiographic investigations excluded bony abnormalities of the affected joints (Boschann et al., 2022). For a general phenotypic description and discussion of genetic heterogeneity of distal arthrogryposis, see DA1A (108120).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1847896">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1847896" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Arthrogryposis, distal, type 12</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_113099" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Arthrogryposis, distal, type 1A</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_354673" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Brachydactyly type A1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_10257" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Nail-patella syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_350010" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Syndactyly type 5</a></div></div>
|
||
</div>
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||
<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
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to supplement articles available in PubMed. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div>
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<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/16902295">Missing creases of distal finger joints as a diagnostic clue of nail-patella syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Itin PH,
|
||
Eich G,
|
||
Fistarol SK</span><br />
|
||
<span class="medgenPMjournal">Dermatology</span>
|
||
2006;213(2):153-5.
|
||
doi: 10.1159/000093857.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16902295" target="_blank">16902295</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Absent%20distal%20interphalangeal%20creases%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 (1)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/16902295">Missing creases of distal finger joints as a diagnostic clue of nail-patella syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Itin PH,
|
||
Eich G,
|
||
Fistarol SK</span><br />
|
||
<span class="medgenPMjournal">Dermatology</span>
|
||
2006;213(2):153-5.
|
||
doi: 10.1159/000093857.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16902295" target="_blank">16902295</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Absent%20distal%20interphalangeal%20creases%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 (1)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/16902295">Missing creases of distal finger joints as a diagnostic clue of nail-patella syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Itin PH,
|
||
Eich G,
|
||
Fistarol SK</span><br />
|
||
<span class="medgenPMjournal">Dermatology</span>
|
||
2006;213(2):153-5.
|
||
doi: 10.1159/000093857.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16902295" target="_blank">16902295</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Absent%20distal%20interphalangeal%20creases%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 (1)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/16902295">Missing creases of distal finger joints as a diagnostic clue of nail-patella syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Itin PH,
|
||
Eich G,
|
||
Fistarol SK</span><br />
|
||
<span class="medgenPMjournal">Dermatology</span>
|
||
2006;213(2):153-5.
|
||
doi: 10.1159/000093857.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16902295" target="_blank">16902295</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/2061594">Distal symphalangism: a report of two families.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Poush JR</span><br />
|
||
<span class="medgenPMjournal">J Hered</span>
|
||
1991 May-Jun;82(3):233-8.
|
||
doi: 10.1093/oxfordjournals.jhered.a111071.
|
||
<span class="bold">PMID: </span><a href="/pubmed/2061594" target="_blank">2061594</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Absent%20distal%20interphalangeal%20creases%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 (2)</a></div></div>
|
||
</div>
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||
</div></div></div></div></div></div></div>
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<div id="messagearea_bottom">
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<div class="supplemental col three_col last">
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||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
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<div class="portlet_content ln"><ul><li><a href="https://clinicaltrials.gov/search?cond=Absent%20distal%20interphalangeal%20creases" target="_blank">ClinicalTrials.gov</a></li></ul></div>
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<div class="portlet_content ln"><ul><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Absent%20distal%20interphalangeal%20creases" target="_blank">MedlinePlus</a></li></ul></div>
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<ul>
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<li>
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<a href="/pubmed/clinical?term=Absent%20distal%20interphalangeal%20creases" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=2" target="_blank">PubMed Clinical Queries</a>
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<a href="/pubmed?term=Absent%20distal%20interphalangeal%20creases%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=2" target="_blank">Reviews in PubMed</a>
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<a class="brieflinkpopperctrl" href="/pmc?LinkName=medgen_pmc&from_uid=350011" ref="log$=recordlinks">PMC Articles</a>
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<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed&from_uid=350011" ref="log$=recordlinks">PubMed</a>
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<div class="brieflinkpop offscreen_noflow">Related literature resources in PubMed</div>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=1" href="/portal/utils/pageresolver.fcgi?recordid=67d4d44284f3725e590b66d2">Absent distal interphalangeal creases</a>
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<div class="ralinkpop offscreen_noflow">Absent distal interphalangeal creases<div class="brieflinkpopdesc"></div></div>
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<div class="tertiary">MedGen</div>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=2" href="/portal/utils/pageresolver.fcgi?recordid=67d4d44084f3725e590b5eae">Disproportionate prominence of the femoral medial condyle</a>
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<div class="ralinkpop offscreen_noflow">Disproportionate prominence of the femoral medial condyle<div class="brieflinkpopdesc"></div></div>
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<div class="tertiary">MedGen</div>
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<div class="tertiary">MedGen</div>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=4" href="/portal/utils/pageresolver.fcgi?recordid=67d4d43567c23b31e08426ad">Nail-Patella Syndrome - GeneReviews®</a>
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<div class="tertiary"></div>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=5" href="/portal/utils/pageresolver.fcgi?recordid=67d4d43484f3725e590b2c9c">Table B. [OMIM Entries for Nail-Patella Syndrome (View All in OMIM)]. - GeneRevi...</a>
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<div class="ralinkpop offscreen_noflow">Table B. [OMIM Entries for Nail-Patella Syndrome (View All in OMIM)]. - GeneReviews®<div class="brieflinkpopdesc"></div></div>
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