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682 lines
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116 KiB
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<div><div class="rprt"><div class="rprtnum nohighlight"><label for="UidCheckBox1289" class="ui-helper-hidden-accessible">Select item 1289</label><input name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_RVDocSum.uid" sid="1" type="checkbox" id="UidCheckBox1289" value="1289" /><span>1.</span></div><div class="rslt"><p class="title"><a href="/medgen/1289" ref="ordinalpos=1&ncbi_uid=1289&link_uid=1289">Achondroplasia</a></p><div class="supp"><p class="rprtbody"><span class="concept-def">Achondroplasia is the most common cause of disproportionate short stature. Affected individuals have rhizomelic shortening of the limbs, macrocephaly, and characteristic facial features with frontal bossing and midface retrusion. In infancy, hypotonia is typical, and acquisition of developmental motor milestones is often both aberrant in pattern and delayed. Intelligence and life span are usually near normal, although craniocervical junction compression increases the risk of death in infancy. Additional complications include obstructive sleep apnea, middle ear dysfunction, kyphosis, and spinal stenosis. [from <a title="GeneReviews" href="https://www.ncbi.nlm.nih.gov/books/NBK1116" class="defSource" target="_blank">GeneReviews</a>]</span><br /></p><div class="spaceAboveSmall"><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1289</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.">C0001080</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div><div>
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<ul class="db_links"><li><a href="/gtr/tests/?term=C0001080%5bDISCUI%5d" target="_blank">GTR</a></li>
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<li><a href="/clinvar?LinkName=medgen_clinvar&from_uid=1289" target="_blank">ClinVar</a></li>
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<li><a href="/gene?LinkName=medgen_gene_diseases&from_uid=1289" target="_blank">Genes</a></li>
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<li><a href="http://www.omim.org/entry/100800" target="_blank">OMIM</a></li>
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<li><a href="/pubmed?LinkName=medgen_pubmed_genereviews&from_uid=1289" target="_blank"><i>GeneReviews</i></a></li></ul>
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</div></div></div></div><div class="rprt"><div class="rprtnum nohighlight"><label for="UidCheckBox67398" class="ui-helper-hidden-accessible">Select item 67398</label><input name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_RVDocSum.uid" sid="2" type="checkbox" id="UidCheckBox67398" value="67398" /><span>2.</span></div><div class="rslt"><p class="title"><a href="/medgen/67398" ref="ordinalpos=2&ncbi_uid=67398&link_uid=67398">Metaphyseal chondrodysplasia, McKusick type</a></p><div class="supp"><p class="rprtbody"><span class="concept-def">The cartilage-hair hypoplasia – anauxetic dysplasia (CHH-AD) spectrum disorders are a continuum that includes the following phenotypes: Metaphyseal dysplasia without hypotrichosis (MDWH). Cartilage-hair hypoplasia (CHH). Anauxetic dysplasia (AD). CHH-AD spectrum disorders are characterized by severe disproportionate (short-limb) short stature that is usually recognized in the newborn, and occasionally prenatally because of the short extremities. Other findings include joint hypermobility, fine, silky hair, immunodeficiency, anemia, increased risk for malignancy, gastrointestinal dysfunction, and impaired spermatogenesis. The most severe phenotype, AD, has the most pronounced skeletal phenotype, may be associated with atlantoaxial subluxation in the newborn, and may include cognitive deficiency. The clinical manifestations of the CHH-AD spectrum disorders are variable, even within the same family. [from <a title="GeneReviews" href="https://www.ncbi.nlm.nih.gov/books/NBK1116" class="defSource" target="_blank">GeneReviews</a>]</span><br /></p><div class="spaceAboveSmall"><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>67398</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.">C0220748</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality; Disease or Syndrome</dd></dl></div></div></div><div>
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<ul class="db_links"><li><a href="/gtr/tests/?term=C0220748%5bDISCUI%5d" target="_blank">GTR</a></li>
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<li><a href="/clinvar?LinkName=medgen_clinvar&from_uid=67398" target="_blank">ClinVar</a></li>
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<li><a href="/gene?LinkName=medgen_gene_diseases&from_uid=67398" target="_blank">Genes</a></li>
|
||
<li><a href="http://www.omim.org/entry/250250" target="_blank">OMIM</a></li>
|
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<li><a href="/pubmed?LinkName=medgen_pubmed_genereviews&from_uid=67398" target="_blank"><i>GeneReviews</i></a></li></ul>
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</div></div></div></div><div class="rprt"><div class="rprtnum nohighlight"><label for="UidCheckBox10257" class="ui-helper-hidden-accessible">Select item 10257</label><input name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_RVDocSum.uid" sid="3" type="checkbox" id="UidCheckBox10257" value="10257" /><span>3.</span></div><div class="rslt"><p class="title"><a href="/medgen/10257" ref="ordinalpos=3&ncbi_uid=10257&link_uid=10257">Nail-patella syndrome</a></p><div class="supp"><p class="rprtbody"><span class="concept-def">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. [from <a title="GeneReviews" href="https://www.ncbi.nlm.nih.gov/books/NBK1116" class="defSource" target="_blank">GeneReviews</a>]</span><br /></p><div class="spaceAboveSmall"><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>
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<ul class="db_links"><li><a href="/gtr/tests/?term=C0027341%5bDISCUI%5d" target="_blank">GTR</a></li>
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<li><a href="/clinvar?LinkName=medgen_clinvar&from_uid=10257" target="_blank">ClinVar</a></li>
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<li><a href="http://www.omim.org/entry/161200" target="_blank">OMIM</a></li>
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<li><a href="/pubmed?LinkName=medgen_pubmed_genereviews&from_uid=10257" target="_blank"><i>GeneReviews</i></a></li></ul>
|
||
</div></div></div></div><div class="rprt"><div class="rprtnum nohighlight"><label for="UidCheckBox78539" class="ui-helper-hidden-accessible">Select item 78539</label><input name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_RVDocSum.uid" sid="4" type="checkbox" id="UidCheckBox78539" value="78539" /><span>4.</span></div><div class="rslt"><p class="title"><a href="/medgen/78539" ref="ordinalpos=4&ncbi_uid=78539&link_uid=78539">Cohen syndrome</a></p><div class="supp"><p class="rprtbody"><span class="concept-def">Cohen syndrome is characterized by failure to thrive in infancy and childhood; truncal obesity in the teen years; early-onset hypotonia and developmental delays; microcephaly developing during the first year of life; moderate to profound psychomotor retardation; progressive retinochoroidal dystrophy and high myopia; neutropenia in many with recurrent infections and aphthous ulcers in some; a cheerful disposition; joint hypermobility; and characteristic facial features. [from <a title="GeneReviews" href="https://www.ncbi.nlm.nih.gov/books/NBK1116" class="defSource" target="_blank">GeneReviews</a>]</span><br /></p><div class="spaceAboveSmall"><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>78539</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.">C0265223</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div><div>
|
||
<ul class="db_links"><li><a href="/gtr/tests/?term=C0265223%5bDISCUI%5d" target="_blank">GTR</a></li>
|
||
<li><a href="/clinvar?LinkName=medgen_clinvar&from_uid=78539" target="_blank">ClinVar</a></li>
|
||
<li><a href="/gene?LinkName=medgen_gene_diseases&from_uid=78539" target="_blank">Genes</a></li>
|
||
<li><a href="http://www.omim.org/entry/216550" target="_blank">OMIM</a></li>
|
||
<li><a href="/pubmed?LinkName=medgen_pubmed_genereviews&from_uid=78539" target="_blank"><i>GeneReviews</i></a></li></ul>
|
||
</div></div></div></div><div class="rprt"><div class="rprtnum nohighlight"><label for="UidCheckBox1768809" class="ui-helper-hidden-accessible">Select item 1768809</label><input name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_RVDocSum.uid" sid="5" type="checkbox" id="UidCheckBox1768809" value="1768809" /><span>5.</span></div><div class="rslt"><p class="title"><a href="/medgen/1768809" ref="ordinalpos=5&ncbi_uid=1768809&link_uid=1768809">FG syndrome 1</a></p><div class="supp"><p class="rprtbody"><span class="concept-def">MED12-related disorders include the phenotypes of FG syndrome type 1 (FGS1), Lujan syndrome (LS), X-linked Ohdo syndrome (XLOS), Hardikar syndrome (HS), and nonspecific intellectual disability (NSID). FGS1 and LS share the clinical findings of cognitive impairment, hypotonia, and abnormalities of the corpus callosum. FGS1 is further characterized by absolute or relative macrocephaly, tall forehead, downslanted palpebral fissures, small and simple ears, constipation and/or anal anomalies, broad thumbs and halluces, and characteristic behavior. LS is further characterized by large head, tall thin body habitus, long thin face, prominent nasal bridge, high narrow palate, and short philtrum. Carrier females in families with FGS1 and LS are typically unaffected. XLOS is characterized by intellectual disability, blepharophimosis, and facial coarsening. HS has been described in females with cleft lip and/or cleft palate, biliary and liver anomalies, intestinal malrotation, pigmentary retinopathy, and coarctation of the aorta. Developmental and cognitive concerns have not been reported in females with HS. Pathogenic variants in MED12 have been reported in an increasing number of males and females with NSID, with affected individuals often having clinical features identified in other MED12-related disorders. [from <a title="GeneReviews" href="https://www.ncbi.nlm.nih.gov/books/NBK1116" class="defSource" target="_blank">GeneReviews</a>]</span><br /></p><div class="spaceAboveSmall"><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1768809</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.">C5399762</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div><div>
|
||
<ul class="db_links"><li><a href="/gtr/tests/?term=C5399762%5bDISCUI%5d" target="_blank">GTR</a></li>
|
||
<li><a href="/clinvar?LinkName=medgen_clinvar&from_uid=1768809" target="_blank">ClinVar</a></li>
|
||
<li><a href="/gene?LinkName=medgen_gene_diseases&from_uid=1768809" target="_blank">Genes</a></li>
|
||
<li><a href="http://www.omim.org/entry/305450" target="_blank">OMIM</a></li>
|
||
<li><a href="/pubmed?LinkName=medgen_pubmed_genereviews&from_uid=1768809" target="_blank"><i>GeneReviews</i></a></li></ul>
|
||
</div></div></div></div><div class="rprt"><div class="rprtnum nohighlight"><label for="UidCheckBox113103" class="ui-helper-hidden-accessible">Select item 113103</label><input name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_RVDocSum.uid" sid="6" type="checkbox" id="UidCheckBox113103" value="113103" /><span>6.</span></div><div class="rslt"><p class="title"><a href="/medgen/113103" ref="ordinalpos=6&ncbi_uid=113103&link_uid=113103">Diastrophic dysplasia</a></p><div class="supp"><p class="rprtbody"><span class="concept-def">Diastrophic dysplasia (DTD) is characterized by limb shortening, normal-sized head, hitchhiker thumbs, spinal deformities (scoliosis, exaggerated lumbar lordosis, cervical kyphosis), and contractures of the large joints with deformities and early-onset osteoarthritis. Other typical findings are ulnar deviation of the fingers, gap between the first and second toes, and clubfoot. On occasion, the disease can be lethal at birth, but most affected individuals survive the neonatal period and develop physical limitations with normal intelligence. [from <a title="GeneReviews" href="https://www.ncbi.nlm.nih.gov/books/NBK1116" class="defSource" target="_blank">GeneReviews</a>]</span><br /></p><div class="spaceAboveSmall"><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>113103</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.">C0220726</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div><div>
|
||
<ul class="db_links"><li><a href="/gtr/tests/?term=C0220726%5bDISCUI%5d" target="_blank">GTR</a></li>
|
||
<li><a href="/clinvar?LinkName=medgen_clinvar&from_uid=113103" target="_blank">ClinVar</a></li>
|
||
<li><a href="/gene?LinkName=medgen_gene_diseases&from_uid=113103" target="_blank">Genes</a></li>
|
||
<li><a href="http://www.omim.org/entry/222600" target="_blank">OMIM</a></li>
|
||
<li><a href="/pubmed?LinkName=medgen_pubmed_genereviews&from_uid=113103" target="_blank"><i>GeneReviews</i></a></li></ul>
|
||
</div></div></div></div><div class="rprt"><div class="rprtnum nohighlight"><label for="UidCheckBox412530" class="ui-helper-hidden-accessible">Select item 412530</label><input name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_RVDocSum.uid" sid="7" type="checkbox" id="UidCheckBox412530" value="412530" /><span>7.</span></div><div class="rslt"><p class="title"><a href="/medgen/412530" ref="ordinalpos=7&ncbi_uid=412530&link_uid=412530">Spondyloepiphyseal dysplasia congenita</a></p><div class="supp"><p class="rprtbody"><span class="concept-def">Spondyloepiphyseal dysplasia congenita (SEDC) is an autosomal dominant chondrodysplasia characterized by disproportionate short stature (short trunk), abnormal epiphyses, and flattened vertebral bodies. Skeletal features are manifested at birth and evolve with time. Other features include myopia and/or retinal degeneration with retinal detachment and cleft palate (summary by Anderson et al., 1990). [from <a title="Online Mendelian Inheritance in Man" href="http://www.omim.org" class="defSource" target="_blank">OMIM</a>]</span><br /></p><div class="spaceAboveSmall"><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>412530</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.">C2745959</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div><div>
|
||
<ul class="db_links"><li><a href="/gtr/tests/?term=C2745959%5bDISCUI%5d" target="_blank">GTR</a></li>
|
||
<li><a href="/clinvar?LinkName=medgen_clinvar&from_uid=412530" target="_blank">ClinVar</a></li>
|
||
<li><a href="/gene?LinkName=medgen_gene_diseases&from_uid=412530" target="_blank">Genes</a></li>
|
||
<li><a href="http://www.omim.org/entry/183900" target="_blank">OMIM</a></li>
|
||
<li><a href="/pubmed?LinkName=medgen_pubmed_genereviews&from_uid=412530" target="_blank"><i>GeneReviews</i></a></li></ul>
|
||
</div></div></div></div><div class="rprt"><div class="rprtnum nohighlight"><label for="UidCheckBox44514" class="ui-helper-hidden-accessible">Select item 44514</label><input name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_RVDocSum.uid" sid="8" type="checkbox" id="UidCheckBox44514" value="44514" /><span>8.</span></div><div class="rslt"><p class="title"><a href="/medgen/44514" ref="ordinalpos=8&ncbi_uid=44514&link_uid=44514">Mucopolysaccharidosis type 6</a></p><div class="supp"><p class="rprtbody"><span class="concept-def">Mucopolysaccharidosis type VI (MPS6) is an autosomal recessive lysosomal storage disorder resulting from a deficiency of arylsulfatase B. Clinical features and severity are variable, but usually include short stature, hepatosplenomegaly, dysostosis multiplex, stiff joints, corneal clouding, cardiac abnormalities, and facial dysmorphism. Intelligence is usually normal (Azevedo et al., 2004). [from <a title="Online Mendelian Inheritance in Man" href="http://www.omim.org" class="defSource" target="_blank">OMIM</a>]</span><br /></p><div class="spaceAboveSmall"><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>44514</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.">C0026709</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div><div>
|
||
<ul class="db_links"><li><a href="/gtr/tests/?term=C0026709%5bDISCUI%5d" target="_blank">GTR</a></li>
|
||
<li><a href="/clinvar?LinkName=medgen_clinvar&from_uid=44514" target="_blank">ClinVar</a></li>
|
||
<li><a href="/gene?LinkName=medgen_gene_diseases&from_uid=44514" target="_blank">Genes</a></li>
|
||
<li><a href="http://www.omim.org/entry/253200" target="_blank">OMIM</a></li>
|
||
<li><span class="inactive"><i>GeneReviews</i></span></li></ul>
|
||
</div></div></div></div><div class="rprt"><div class="rprtnum nohighlight"><label for="UidCheckBox5288" class="ui-helper-hidden-accessible">Select item 5288</label><input name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_RVDocSum.uid" sid="9" type="checkbox" id="UidCheckBox5288" value="5288" /><span>9.</span></div><div class="rslt"><p class="title"><a href="/medgen/5288" ref="ordinalpos=9&ncbi_uid=5288&link_uid=5288">Fucosidosis</a></p><div class="supp"><p class="rprtbody"><span class="concept-def">Fucosidosis is an autosomal recessive lysosomal storage disease caused by defective alpha-L-fucosidase with accumulation of fucose in the tissues. Clinical features include angiokeratoma, progressive psychomotor retardation, neurologic signs, coarse facial features, and dysostosis multiplex. Fucosidosis has been classified into 2 major types. Type 1 is characterized by rapid psychomotor regression and severe neurologic deterioration beginning at about 6 months of age, elevated sweat sodium chloride, and death within the first decade of life. Type 2 is characterized by milder psychomotor retardation and neurologic signs, the development of angiokeratoma corporis diffusum, normal sweat salinity, and longer survival (Kousseff et al., 1976). [from <a title="Online Mendelian Inheritance in Man" href="http://www.omim.org" class="defSource" target="_blank">OMIM</a>]</span><br /></p><div class="spaceAboveSmall"><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>5288</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.">C0016788</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div><div>
|
||
<ul class="db_links"><li><a href="/gtr/tests/?term=C0016788%5bDISCUI%5d" target="_blank">GTR</a></li>
|
||
<li><a href="/clinvar?LinkName=medgen_clinvar&from_uid=5288" target="_blank">ClinVar</a></li>
|
||
<li><a href="/gene?LinkName=medgen_gene_diseases&from_uid=5288" target="_blank">Genes</a></li>
|
||
<li><a href="http://www.omim.org/entry/230000" target="_blank">OMIM</a></li>
|
||
<li><span class="inactive"><i>GeneReviews</i></span></li></ul>
|
||
</div></div></div></div><div class="rprt"><div class="rprtnum nohighlight"><label for="UidCheckBox98376" class="ui-helper-hidden-accessible">Select item 98376</label><input name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_RVDocSum.uid" sid="10" type="checkbox" id="UidCheckBox98376" value="98376" /><span>10.</span></div><div class="rslt"><p class="title"><a href="/medgen/98376" ref="ordinalpos=10&ncbi_uid=98376&link_uid=98376">Hypochondroplasia</a></p><div class="supp"><p class="rprtbody"><span class="concept-def">Hypochondroplasia is a skeletal dysplasia characterized by short stature; stocky build; disproportionately short arms and legs; broad, short hands and feet; mild joint laxity; and macrocephaly. Radiologic features include shortening of long bones with mild metaphyseal flare; narrowing of the inferior lumbar interpedicular distances; short, broad femoral neck; and squared, shortened ilia. The skeletal features are very similar to those seen in achondroplasia but tend to be milder. Medical complications common to achondroplasia (e.g., spinal stenosis, tibial bowing, obstructive apnea) occur less frequently in hypochondroplasia but intellectual disability and epilepsy may be more prevalent. Children usually present as toddlers or at early school age with decreased growth velocity leading to short stature and limb disproportion. Other features also become more prominent over time. [from <a title="GeneReviews" href="https://www.ncbi.nlm.nih.gov/books/NBK1116" class="defSource" target="_blank">GeneReviews</a>]</span><br /></p><div class="spaceAboveSmall"><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>98376</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.">C0410529</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div><div>
|
||
<ul class="db_links"><li><a href="/gtr/tests/?term=C0410529%5bDISCUI%5d" target="_blank">GTR</a></li>
|
||
<li><a href="/clinvar?LinkName=medgen_clinvar&from_uid=98376" target="_blank">ClinVar</a></li>
|
||
<li><a href="/gene?LinkName=medgen_gene_diseases&from_uid=98376" target="_blank">Genes</a></li>
|
||
<li><a href="http://www.omim.org/entry/146000" target="_blank">OMIM</a></li>
|
||
<li><a href="/pubmed?LinkName=medgen_pubmed_genereviews&from_uid=98376" target="_blank"><i>GeneReviews</i></a></li></ul>
|
||
</div></div></div></div><div class="rprt"><div class="rprtnum nohighlight"><label for="UidCheckBox164078" class="ui-helper-hidden-accessible">Select item 164078</label><input name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_RVDocSum.uid" sid="11" type="checkbox" id="UidCheckBox164078" value="164078" /><span>11.</span></div><div class="rslt"><p class="title"><a href="/medgen/164078" ref="ordinalpos=11&ncbi_uid=164078&link_uid=164078">Schimke immuno-osseous dysplasia</a></p><div class="supp"><p class="rprtbody"><span class="concept-def">Schimke immunoosseous dysplasia (SIOD) is characterized by spondyloepiphyseal dysplasia (SED) resulting in short stature, nephropathy, and T cell deficiency. Radiographic manifestations of SED include ovoid and mildly flattened vertebral bodies, small ilia with shallow dysplastic acetabular fossae, and small deformed capital femoral epiphyses. Nearly all affected individuals have progressive steroid-resistant nephropathy, usually developing within five years of the diagnosis of growth failure and terminating with end-stage renal disease. The majority of tested individuals have T cell deficiency and an associated risk for opportunistic infection, a common cause of death. SIOD involves a spectrum that ranges from an infantile or severe early-onset form with a greater risk of death during childhood to a juvenile or milder later-onset form with likely survival into adulthood if renal disease is appropriately treated. [from <a title="GeneReviews" href="https://www.ncbi.nlm.nih.gov/books/NBK1116" class="defSource" target="_blank">GeneReviews</a>]</span><br /></p><div class="spaceAboveSmall"><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>164078</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.">C0877024</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div><div>
|
||
<ul class="db_links"><li><a href="/gtr/tests/?term=C0877024%5bDISCUI%5d" target="_blank">GTR</a></li>
|
||
<li><a href="/clinvar?LinkName=medgen_clinvar&from_uid=164078" target="_blank">ClinVar</a></li>
|
||
<li><a href="/gene?LinkName=medgen_gene_diseases&from_uid=164078" target="_blank">Genes</a></li>
|
||
<li><a href="http://www.omim.org/entry/242900" target="_blank">OMIM</a></li>
|
||
<li><a href="/pubmed?LinkName=medgen_pubmed_genereviews&from_uid=164078" target="_blank"><i>GeneReviews</i></a></li></ul>
|
||
</div></div></div></div><div class="rprt"><div class="rprtnum nohighlight"><label for="UidCheckBox338072" class="ui-helper-hidden-accessible">Select item 338072</label><input name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_RVDocSum.uid" sid="12" type="checkbox" id="UidCheckBox338072" value="338072" /><span>12.</span></div><div class="rslt"><p class="title"><a href="/medgen/338072" ref="ordinalpos=12&ncbi_uid=338072&link_uid=338072">Atelosteogenesis type II</a></p><div class="supp"><p class="rprtbody"><span class="concept-def">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. [from <a title="GeneReviews" href="https://www.ncbi.nlm.nih.gov/books/NBK1116" class="defSource" target="_blank">GeneReviews</a>]</span><br /></p><div class="spaceAboveSmall"><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>
|
||
<ul class="db_links"><li><a href="/gtr/tests/?term=C1850554%5bDISCUI%5d" target="_blank">GTR</a></li>
|
||
<li><a href="/clinvar?LinkName=medgen_clinvar&from_uid=338072" target="_blank">ClinVar</a></li>
|
||
<li><a href="/gene?LinkName=medgen_gene_diseases&from_uid=338072" target="_blank">Genes</a></li>
|
||
<li><a href="http://www.omim.org/entry/256050" target="_blank">OMIM</a></li>
|
||
<li><a href="/pubmed?LinkName=medgen_pubmed_genereviews&from_uid=338072" target="_blank"><i>GeneReviews</i></a></li></ul>
|
||
</div></div></div></div><div class="rprt"><div class="rprtnum nohighlight"><label for="UidCheckBox167103" class="ui-helper-hidden-accessible">Select item 167103</label><input name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_RVDocSum.uid" sid="13" type="checkbox" id="UidCheckBox167103" value="167103" /><span>13.</span></div><div class="rslt"><p class="title"><a href="/medgen/167103" ref="ordinalpos=13&ncbi_uid=167103&link_uid=167103">Myhre syndrome</a></p><div class="supp"><p class="rprtbody"><span class="concept-def">Myhre syndrome is a multisystem progressive connective tissue disorder that often results in significant complications. The highly distinctive (and often severe) findings of joint stiffness, restrictive lung and cardiovascular disease, progressive and proliferative fibrosis, and thickening of the skin usually occur spontaneously. Some proliferation such as abnormal scarring or adhesions may follow trauma, invasive medical procedures, or surgery. Effusions of the heart, airways, lungs, uterus, and peritoneum may occur and can progress to fibrosis. Most affected individuals have characteristic facial features (short palpebral fissures, deeply set eyes, maxillary underdevelopment, short philtrum, thin vermilion of the upper lip, narrow mouth, and prognathism) and developmental delay / cognitive disability, typically in the mild-to-moderate range. Neurobehavioral issues may include autism spectrum disorder (ASD), attention-deficit/hyperactivity disorder (ADHD), and/or anxiety. Although immunoglobulin (Ig) G and IgA deficiency are rare, affected individuals can experience recurrent infections (including otitis media, sinusitis, mastoiditis, or croup). Hearing loss can progress over time. Growth may be impaired in early life. Most adolescents develop obesity. Eye findings can include refractive errors, astigmatism, corectopia, and optic nerve anomalies. Gastrointestinal (GI) issues may include gastroesophageal reflux disease, constipation, and encopresis. Less commonly, stenosis of the GI tract, Hirschsprung disease, and/or metabolic dysfunction-associated liver disease may be observed. [from <a title="GeneReviews" href="https://www.ncbi.nlm.nih.gov/books/NBK1116" class="defSource" target="_blank">GeneReviews</a>]</span><br /></p><div class="spaceAboveSmall"><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>167103</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.">C0796081</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div><div>
|
||
<ul class="db_links"><li><a href="/gtr/tests/?term=C0796081%5bDISCUI%5d" target="_blank">GTR</a></li>
|
||
<li><a href="/clinvar?LinkName=medgen_clinvar&from_uid=167103" target="_blank">ClinVar</a></li>
|
||
<li><a href="/gene?LinkName=medgen_gene_diseases&from_uid=167103" target="_blank">Genes</a></li>
|
||
<li><a href="http://www.omim.org/entry/139210" target="_blank">OMIM</a></li>
|
||
<li><a href="/pubmed?LinkName=medgen_pubmed_genereviews&from_uid=167103" target="_blank"><i>GeneReviews</i></a></li></ul>
|
||
</div></div></div></div><div class="rprt"><div class="rprtnum nohighlight"><label for="UidCheckBox98378" class="ui-helper-hidden-accessible">Select item 98378</label><input name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_RVDocSum.uid" sid="14" type="checkbox" id="UidCheckBox98378" value="98378" /><span>14.</span></div><div class="rslt"><p class="title"><a href="/medgen/98378" ref="ordinalpos=14&ncbi_uid=98378&link_uid=98378">Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome</a></p><div class="supp"><p class="rprtbody"><span class="concept-def">COMP-related pseudoachondroplasia (COMP-PSACH) is characterized by normal length at birth and normal facies. Often the presenting feature is a waddling gait, recognized at the onset of walking. Typically, the growth rate falls below the standard growth curve by approximately age two years, leading to a moderately severe form of disproportionate short-limb short stature. Joint pain during childhood, particularly in the large joints of the lower extremities, is common. Degenerative joint disease is progressive; approximately 50% of individuals with COMP-PSACH eventually require hip replacement surgery. [from <a title="GeneReviews" href="https://www.ncbi.nlm.nih.gov/books/NBK1116" class="defSource" target="_blank">GeneReviews</a>]</span><br /></p><div class="spaceAboveSmall"><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>98378</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0410538</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div><div>
|
||
<ul class="db_links"><li><a href="/gtr/tests/?term=C0410538%5bDISCUI%5d" target="_blank">GTR</a></li>
|
||
<li><a href="/clinvar?LinkName=medgen_clinvar&from_uid=98378" target="_blank">ClinVar</a></li>
|
||
<li><a href="/gene?LinkName=medgen_gene_diseases&from_uid=98378" target="_blank">Genes</a></li>
|
||
<li><a href="http://www.omim.org/entry/177170" target="_blank">OMIM</a></li>
|
||
<li><a href="/pubmed?LinkName=medgen_pubmed_genereviews&from_uid=98378" target="_blank"><i>GeneReviews</i></a></li></ul>
|
||
</div></div></div></div><div class="rprt"><div class="rprtnum nohighlight"><label for="UidCheckBox358388" class="ui-helper-hidden-accessible">Select item 358388</label><input name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_RVDocSum.uid" sid="15" type="checkbox" id="UidCheckBox358388" value="358388" /><span>15.</span></div><div class="rslt"><p class="title"><a href="/medgen/358388" ref="ordinalpos=15&ncbi_uid=358388&link_uid=358388">Weill-Marchesani syndrome 2, dominant</a></p><div class="supp"><p class="rprtbody"><span class="concept-def">Weill-Marchesani syndrome (WMS) is a connective tissue disorder characterized by abnormalities of the lens of the eye, short stature, brachydactyly, joint stiffness, and cardiovascular defects. The ocular problems, typically recognized in childhood, include microspherophakia (small spherical lens), myopia secondary to the abnormal shape of the lens, ectopia lentis (abnormal position of the lens), and glaucoma, which can lead to blindness. Height of adult males is 142-169 cm; height of adult females is 130-157 cm. Autosomal recessive WMS cannot be distinguished from autosomal dominant WMS by clinical findings alone. [from <a title="GeneReviews" href="https://www.ncbi.nlm.nih.gov/books/NBK1116" class="defSource" target="_blank">GeneReviews</a>]</span><br /></p><div class="spaceAboveSmall"><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>358388</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.">C1869115</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div><div>
|
||
<ul class="db_links"><li><a href="/gtr/tests/?term=C1869115%5bDISCUI%5d" target="_blank">GTR</a></li>
|
||
<li><a href="/clinvar?LinkName=medgen_clinvar&from_uid=358388" target="_blank">ClinVar</a></li>
|
||
<li><a href="/gene?LinkName=medgen_gene_diseases&from_uid=358388" target="_blank">Genes</a></li>
|
||
<li><a href="http://www.omim.org/entry/608328" target="_blank">OMIM</a></li>
|
||
<li><a href="/pubmed?LinkName=medgen_pubmed_genereviews&from_uid=358388" target="_blank"><i>GeneReviews</i></a></li></ul>
|
||
</div></div></div></div><div class="rprt"><div class="rprtnum nohighlight"><label for="UidCheckBox1637058" class="ui-helper-hidden-accessible">Select item 1637058</label><input name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_RVDocSum.uid" sid="16" type="checkbox" id="UidCheckBox1637058" value="1637058" /><span>16.</span></div><div class="rslt"><p class="title"><a href="/medgen/1637058" ref="ordinalpos=16&ncbi_uid=1637058&link_uid=1637058">Weill-Marchesani syndrome 1</a></p><div class="supp"><p class="rprtbody"><span class="concept-def">Weill-Marchesani syndrome (WMS) is a connective tissue disorder characterized by abnormalities of the lens of the eye, short stature, brachydactyly, joint stiffness, and cardiovascular defects. The ocular problems, typically recognized in childhood, include microspherophakia (small spherical lens), myopia secondary to the abnormal shape of the lens, ectopia lentis (abnormal position of the lens), and glaucoma, which can lead to blindness. Height of adult males is 142-169 cm; height of adult females is 130-157 cm. Autosomal recessive WMS cannot be distinguished from autosomal dominant WMS by clinical findings alone. [from <a title="GeneReviews" href="https://www.ncbi.nlm.nih.gov/books/NBK1116" class="defSource" target="_blank">GeneReviews</a>]</span><br /></p><div class="spaceAboveSmall"><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1637058</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.">C4552002</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div><div>
|
||
<ul class="db_links"><li><a href="/gtr/tests/?term=C4552002%5bDISCUI%5d" target="_blank">GTR</a></li>
|
||
<li><a href="/clinvar?LinkName=medgen_clinvar&from_uid=1637058" target="_blank">ClinVar</a></li>
|
||
<li><a href="/gene?LinkName=medgen_gene_diseases&from_uid=1637058" target="_blank">Genes</a></li>
|
||
<li><a href="http://www.omim.org/entry/277600" target="_blank">OMIM</a></li>
|
||
<li><a href="/pubmed?LinkName=medgen_pubmed_genereviews&from_uid=1637058" target="_blank"><i>GeneReviews</i></a></li></ul>
|
||
</div></div></div></div><div class="rprt"><div class="rprtnum nohighlight"><label for="UidCheckBox1647391" class="ui-helper-hidden-accessible">Select item 1647391</label><input name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_RVDocSum.uid" sid="17" type="checkbox" id="UidCheckBox1647391" value="1647391" /><span>17.</span></div><div class="rslt"><p class="title"><a href="/medgen/1647391" ref="ordinalpos=17&ncbi_uid=1647391&link_uid=1647391">MYH7-related skeletal myopathy</a></p><div class="supp"><p class="rprtbody"><span class="concept-def">Laing distal myopathy is characterized by early-onset weakness (usually before age 5 years) that initially involves the dorsiflexors of the ankles and great toes and then the finger extensors, especially those of the third and fourth fingers. Weakness of the neck flexors is seen in most affected individuals and mild facial weakness is often present. After distal weakness has been present for more than ten years, mild proximal weakness may be observed. Life expectancy is normal. [from <a title="GeneReviews" href="https://www.ncbi.nlm.nih.gov/books/NBK1116" class="defSource" target="_blank">GeneReviews</a>]</span><br /></p><div class="spaceAboveSmall"><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1647391</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.">C4552004</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div><div>
|
||
<ul class="db_links"><li><a href="/gtr/tests/?term=C4552004%5bDISCUI%5d" target="_blank">GTR</a></li>
|
||
<li><a href="/clinvar?LinkName=medgen_clinvar&from_uid=1647391" target="_blank">ClinVar</a></li>
|
||
<li><a href="/gene?LinkName=medgen_gene_diseases&from_uid=1647391" target="_blank">Genes</a></li>
|
||
<li><a href="http://www.omim.org/entry/160500" target="_blank">OMIM</a></li>
|
||
<li><a href="/pubmed?LinkName=medgen_pubmed_genereviews&from_uid=1647391" target="_blank"><i>GeneReviews</i></a></li></ul>
|
||
</div></div></div></div><div class="rprt"><div class="rprtnum nohighlight"><label for="UidCheckBox1638106" class="ui-helper-hidden-accessible">Select item 1638106</label><input name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_RVDocSum.uid" sid="18" type="checkbox" id="UidCheckBox1638106" value="1638106" /><span>18.</span></div><div class="rslt"><p class="title"><a href="/medgen/1638106" ref="ordinalpos=18&ncbi_uid=1638106&link_uid=1638106">Anauxetic dysplasia 1</a></p><div class="supp"><p class="rprtbody"><span class="concept-def">The cartilage-hair hypoplasia – anauxetic dysplasia (CHH-AD) spectrum disorders are a continuum that includes the following phenotypes: Metaphyseal dysplasia without hypotrichosis (MDWH). Cartilage-hair hypoplasia (CHH). Anauxetic dysplasia (AD). CHH-AD spectrum disorders are characterized by severe disproportionate (short-limb) short stature that is usually recognized in the newborn, and occasionally prenatally because of the short extremities. Other findings include joint hypermobility, fine, silky hair, immunodeficiency, anemia, increased risk for malignancy, gastrointestinal dysfunction, and impaired spermatogenesis. The most severe phenotype, AD, has the most pronounced skeletal phenotype, may be associated with atlantoaxial subluxation in the newborn, and may include cognitive deficiency. The clinical manifestations of the CHH-AD spectrum disorders are variable, even within the same family. [from <a title="GeneReviews" href="https://www.ncbi.nlm.nih.gov/books/NBK1116" class="defSource" target="_blank">GeneReviews</a>]</span><br /></p><div class="spaceAboveSmall"><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1638106</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.">C4551965</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div><div>
|
||
<ul class="db_links"><li><a href="/gtr/tests/?term=C4551965%5bDISCUI%5d" target="_blank">GTR</a></li>
|
||
<li><a href="/clinvar?LinkName=medgen_clinvar&from_uid=1638106" target="_blank">ClinVar</a></li>
|
||
<li><a href="/gene?LinkName=medgen_gene_diseases&from_uid=1638106" target="_blank">Genes</a></li>
|
||
<li><a href="http://www.omim.org/entry/607095" target="_blank">OMIM</a></li>
|
||
<li><a href="/pubmed?LinkName=medgen_pubmed_genereviews&from_uid=1638106" target="_blank"><i>GeneReviews</i></a></li></ul>
|
||
</div></div></div></div><div class="rprt"><div class="rprtnum nohighlight"><label for="UidCheckBox1645741" class="ui-helper-hidden-accessible">Select item 1645741</label><input name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_RVDocSum.uid" sid="19" type="checkbox" id="UidCheckBox1645741" value="1645741" /><span>19.</span></div><div class="rslt"><p class="title"><a href="/medgen/1645741" ref="ordinalpos=19&ncbi_uid=1645741&link_uid=1645741">Autosomal dominant centronuclear myopathy</a></p><div class="supp"><p class="rprtbody"><span class="concept-def">Centronuclear myopathy-1 (CNM1) is an autosomal dominant congenital myopathy characterized by slowly progressive muscular weakness and wasting. The disorder involves mainly limb girdle, trunk, and neck muscles but may also affect distal muscles. Weakness may be present during childhood or adolescence or may not become evident until the third decade of life, and some affected individuals become wheelchair-bound in their fifties. Ptosis and limitation of eye movements occur frequently. The most prominent histopathologic features include high frequency of centrally located nuclei in a large number of extrafusal muscle fibers (which is the basis of the name of the disorder), radial arrangement of sarcoplasmic strands around the central nuclei, and predominance and hypotrophy of type 1 fibers (summary by Bitoun et al., 2005). Genetic Heterogeneity of Centronuclear Myopathy Centronuclear myopathy is a genetically heterogeneous disorder. See also X-linked CNM (CNMX; 310400), caused by mutation in the MTM1 gene (300415) on chromosome Xq28; CNM2 (255200), caused by mutation in the BIN1 gene (601248) on chromosome 2q14; CNM4 (614807), caused by mutation in the CCDC78 gene (614666) on chromosome 16p13; CNM5 (615959), caused by mutation in the SPEG gene (615950) on chromosome 2q35; and CNM6 (617760), caused by mutation in the ZAK gene (609479) on chromosome 2q31. The mutation in the MYF6 gene that was reported to cause a form of CNM, formerly designated CNM3, has been reclassified as a variant of unknown significance; see 159991.0001. Some patients with mutation in the RYR1 gene (180901) have findings of centronuclear myopathy on skeletal muscle biopsy (see 255320). [from <a title="Online Mendelian Inheritance in Man" href="http://www.omim.org" class="defSource" target="_blank">OMIM</a>]</span><br /></p><div class="spaceAboveSmall"><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1645741</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.">C4551952</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div><div>
|
||
<ul class="db_links"><li><a href="/gtr/tests/?term=C4551952%5bDISCUI%5d" target="_blank">GTR</a></li>
|
||
<li><a href="/clinvar?LinkName=medgen_clinvar&from_uid=1645741" target="_blank">ClinVar</a></li>
|
||
<li><a href="/gene?LinkName=medgen_gene_diseases&from_uid=1645741" target="_blank">Genes</a></li>
|
||
<li><a href="http://www.omim.org/entry/160150" target="_blank">OMIM</a></li>
|
||
<li><span class="inactive"><i>GeneReviews</i></span></li></ul>
|
||
</div></div></div></div><div class="rprt"><div class="rprtnum nohighlight"><label for="UidCheckBox162898" class="ui-helper-hidden-accessible">Select item 162898</label><input name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_RVDocSum.uid" sid="20" type="checkbox" id="UidCheckBox162898" value="162898" /><span>20.</span></div><div class="rslt"><p class="title"><a href="/medgen/162898" ref="ordinalpos=20&ncbi_uid=162898&link_uid=162898">Microphthalmia, syndromic 1</a></p><div class="supp"><p class="rprtbody"><span class="concept-def">Microphthalmia-ankyloblepharon-intellectual disability syndrome is characterized by microphthalmia, ankyloblepharon and intellectual deficit. It has been described in seven male patients from two generations of a Northern Ireland family. The causative gene is localized to the Xq27-q28 region. The syndrome is transmitted as an X-linked recessive trait. [from <a title="Orphanet Rare Disease Ontology (ORDO)" href="http://www.orphadata.org/cgi-bin/inc/ordo_orphanet.inc.php" class="defSource" target="_blank">ORDO</a>]</span><br /></p><div class="spaceAboveSmall"><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>162898</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.">C0796016</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div><div>
|
||
<ul class="db_links"><li><a href="/gtr/tests/?term=C0796016%5bDISCUI%5d" target="_blank">GTR</a></li>
|
||
<li><a href="/clinvar?LinkName=medgen_clinvar&from_uid=162898" target="_blank">ClinVar</a></li>
|
||
<li><a href="/gene?LinkName=medgen_gene_diseases&from_uid=162898" target="_blank">Genes</a></li>
|
||
<li><a href="http://www.omim.org/entry/309800" target="_blank">OMIM</a></li>
|
||
<li><span class="inactive"><i>GeneReviews</i></span></li></ul>
|
||
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<textarea name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.Discovery_SearchDetails.SearchDetailsTerm" sid="1" class="searchdetails_term" cols="30" rows="5" db="medgen">"Lumbar hyperlordosis"[Clinical Features] OR 263149[uid]</textarea>
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<a class="htb" ref="log$=activity&linkpos=1" href="/portal/utils/pageresolver.fcgi?recordid=67d5c6a784f3725e590bfc62">"Lumbar hyperlordosis"[Clinical Features] OR 263149[uid] <span class="number">(90)</span></a>
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<a class="htb" ref="log$=activity&linkpos=2" href="/portal/utils/pageresolver.fcgi?recordid=67d5c6a667c23b31e09016ee">"Infantile muscular hypotonia"[Clinical Features] OR 395993[uid] <span class="number">(24)</span></a>
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<a class="htb" ref="log$=activity&linkpos=3" href="/portal/utils/pageresolver.fcgi?recordid=67d5c6a62f30673f7bd3103b">"Limited hip extension"[Clinical Features] OR 766282[uid] <span class="number">(7)</span></a>
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<a class="htb" ref="log$=activity&linkpos=5" href="/portal/utils/pageresolver.fcgi?recordid=67d5c6a5cde49f3df7bb6400">"Frontal bossing"[Clinical Features] OR 67453[uid] <span class="number">(347)</span></a>
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