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<!--
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UID=461427
|
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ConceptID=C3150077
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Mild short stature</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>461427</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.">C3150077</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>Short stature, mild</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:0003502">HP:0003502</a></td></tr>
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<div class="portlet_content ln">A mild degree of short stature, more than -2 SD but not more than -3 SD from mean corrected for age and sex. [from <a title="Human Phenotype Ontology" href="http://www.human-phenotype-ontology.org" class="defSource" target="_blank">HPO</a>]</div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3150077[DISCUI]&test_type=Clinical" ref="ncbi_uid=461427">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=461427" ref="ncbi_uid=461427">V</a></span></span><span class="TLline">Mild short stature</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/867443" ref="tree=MeSH" title="MedGen record for Phenotypic abnormality">Phenotypic abnormality</a></span><ul><li><span class="TLline"><a href="/medgen/808205" ref="tree=MeSH" title="MedGen record for Growth abnormality">Growth abnormality</a></span><ul><li><span class="TLline"><a href="/medgen/99124" ref="tree=MeSH" title="MedGen record for Growth delay">Growth delay</a></span><ul><li><span class="TLline"><a href="/medgen/87607" ref="tree=MeSH" title="MedGen record for Short stature">Short stature</a></span><ul><li><span class="TLline"><a href="/medgen/163901" ref="tree=MeSH" title="MedGen record for Proportionate short stature">Proportionate short stature</a></span><ul><li><span class="matched_ds">Mild short stature</span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
|
||
</div>
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||
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||
<div class="portlet mgSection" id="ID_112">
|
||
<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_7734"><div><strong>Mucopolysaccharidosis, MPS-II</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>7734</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."><span class="highlight" style="background-color:">C0026705</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Mucopolysaccharidosis type II (MPS II; also known as Hunter syndrome) is an X-linked multisystem disorder characterized by glycosaminoglycan (GAG) accumulation. The vast majority of affected individuals are male; on rare occasion heterozygous females manifest findings. Age of onset, disease severity, and rate of progression vary significantly among affected males. In those with the neuronopathic phenotype, central nervous system (CNS) involvement (manifesting primarily as progressive cognitive deterioration), progressive airway disease, and cardiac disease usually results in death in the first or second decade of life. In those with the non-neuronopathic phenotype, the CNS is minimally or not affected. However, the effect of GAG accumulation on other organ systems can be severe. Survival into the early adult years with normal intelligence is common in the non-neuronopathic phenotype. Additional findings in neuronopathic and non-neuronopathic MPS II include: short stature, macrocephaly with or without communicating hydrocephalus, macroglossia, hoarse voice, conductive and sensorineural hearing loss, dysostosis multiplex, spinal stenosis, carpal tunnel syndrome, and hepatosplenomegaly.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/7734">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_10617"><div><strong>Pelger-Huët anomaly</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>10617</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.">C0030779</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Pelger-Huet anomaly (PHA) is an autosomal dominant disorder characterized by hypolobulated neutrophil nuclei with coarse chromatin (Hoffmann et al., 2002). The nucleus of the granulocytes has been described as hyposegmented, being rodlike, dumbbell- or peanut-shaped, or spectaclelike.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/10617">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_61234"><div><strong>Aarskog syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>61234</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.">C0175701</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Aarskog-Scott syndrome is a genetic disorder that affects the development of many parts of the body, most commonly the head and face, the hands and feet, and the genitals and urinary system (genitourinary tract). This condition mainly affects males, although females may have mild features of the syndrome.\n\nPeople with Aarskog-Scott syndrome often have distinctive facial features, such as widely spaced eyes (hypertelorism), a small nose, a long area between the nose and mouth (philtrum), and a widow's peak hairline. They frequently have mild to moderate short stature during childhood, but their growth usually catches up with that of their peers during puberty. Hand abnormalities are common in this syndrome and include short fingers (brachydactyly), curved pinky fingers (fifth finger clinodactyly), webbing of the skin between some fingers (cutaneous syndactyly), and a single crease across the palm. Affected individuals can also have wide, flat feet with broad, rounded toes. Other abnormalities in people with Aarskog-Scott syndrome include heart defects and a split in the upper lip (cleft lip) with or without an opening in the roof of the mouth (cleft palate).\n\nMost males with Aarskog-Scott syndrome have a shawl scrotum, in which the scrotum surrounds the penis instead of hanging below. Less often, they have undescended testes (cryptorchidism) or a soft out-pouching around the belly-button (umbilical hernia) or in the lower abdomen (inguinal hernia).\n\nThe intellectual development of people with Aarskog-Scott syndrome varies widely. Most individuals with Aarskog-Scott syndrome have normal intelligence; however, some may have mild learning and behavior problems, and in rare cases, severe intellectual disability has been reported.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/61234">Condition Record</a></div></div>
|
||
<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_141594"><div><strong>Curry-Hall syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>141594</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.">C0457013</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Weyers acrofacial dysostosis (WAD) is an autosomal dominant disorder with dental anomalies, nail dystrophy, postaxial polydactyly, and mild short stature. Ellis-van Creveld syndrome is a similar disorder, with autosomal recessive inheritance and the additional features of disproportionate dwarfism, thoracic dysplasia, and congenital heart disease (summary by Howard et al., 1997).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/141594">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_220983"><div><strong>Nicolaides-Baraitser syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>220983</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.">C1303073</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">SMARCA2-related Nicolaides-Baraitser syndrome (SMARCA2-NCBRS) is characterized by commonly shared dysmorphic features including sparse scalp hair, prominence of the interphalangeal joints and distal phalanges due to decreased subcutaneous fat, characteristic coarse facial features, microcephaly (typically acquired), seizures, and developmental delay / intellectual disability. Developmental delay / intellectual disability is severe in nearly half of affected individuals, moderate in one third, and mild in the remainder. Nearly one third never develop speech or language skills. Seizures are of various types and can be difficult to manage, requiring multiple anti-seizure medications to achieve reasonable control. Regression or lack of developmental progress has been noted with the onset of seizures in some affected individuals. Behavioral issues can include autistic-like features (perseveration, hyperacusis), with a minority of affected individuals being diagnosed clinically with an autism spectrum disorder. Cryptorchidism is common in males. About half of affected individuals have growth deficiency and short stature. Delayed tooth eruption with hypo- or oligodontia has also been reported. Radiographic findings may include cone-shaped epiphyses, metaphyseal flaring of the phalanges, and shortening of the phalanges, metacarpals, and/or metatarsals (especially of the 4th and 5th rays) of the hands; platyspondyly; flat intervertebral disc space; and pelvic/femoral anomalies. Rare findings include conductive hearing loss, refractive error / astigmatism, and congenital heart defects.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/220983">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_322091"><div><strong>Epiphyseal dysplasia, multiple, 3</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>322091</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.">C1832998</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Autosomal dominant multiple epiphyseal dysplasia (MED) presents in early childhood, usually with pain in the hips and/or knees after exercise. Affected children report fatigue with long-distance walking. Waddling gait may be present. Adult height is either in the lower range of normal or mildly shortened. The limbs are relatively short in comparison to the trunk. Pain and joint deformity progress, resulting in early-onset osteoarthritis, particularly of the large weight-bearing joints.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/322091">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_325376"><div><strong>Multiple epiphyseal dysplasia type 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>325376</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.">C1838280</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Autosomal dominant multiple epiphyseal dysplasia (MED) presents in early childhood, usually with pain in the hips and/or knees after exercise. Affected children report fatigue with long-distance walking. Waddling gait may be present. Adult height is either in the lower range of normal or mildly shortened. The limbs are relatively short in comparison to the trunk. Pain and joint deformity progress, resulting in early-onset osteoarthritis, particularly of the large weight-bearing joints.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/325376">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_333092"><div><strong>Epiphyseal dysplasia, multiple, 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>333092</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.">C1838429</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Autosomal dominant multiple epiphyseal dysplasia (MED) presents in early childhood, usually with pain in the hips and/or knees after exercise. Affected children report fatigue with long-distance walking. Waddling gait may be present. Adult height is either in the lower range of normal or mildly shortened. The limbs are relatively short in comparison to the trunk. Pain and joint deformity progress, resulting in early-onset osteoarthritis, particularly of the large weight-bearing joints.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/333092">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_342156"><div><strong>Digitotalar dysmorphism; ulnar drift, hereditary</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>342156</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.">C1852085</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/342156">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_766164"><div><strong>Acrodysostosis 2 with or without hormone resistance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>766164</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.">C3553250</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Acrodysostosis-2 (ACRDYS2) is a rare skeletal dysplasia characterized by brachydactyly, facial dysostosis, and spinal stenosis. Many patients have intellectual disability and some have hormone resistance (summary by Michot et al., 2012 and Lee et al., 2012). For a discussion of genetic heterogeneity of acrodysostosis, see ACRDYS1 (101800).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/766164">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_766745"><div><strong>Microcephalic primordial dwarfism due to RTTN deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>766745</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.">C3553831</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A rare genetic neurodevelopmental disorder with primordial microcephaly, with characteristics of primary microcephaly, moderate to severe intellectual disability and global developmental delay. Variable brain malformations are common ranging from simplified gyration, to cortical malformations such as pachygyria, polymicrogyria, reduced sulcation and midline defects. Craniofacial dysmorphism (e.g. sloping forehead, high and broad nasal bridge) are related to the primary microcephaly. Short stature is frequently observed, and may be severe. Germline biallelic variants in RTTN (18q22.2) are responsible for the disease. The pattern of inheritance is autosomal recessive.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/766745">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1620874"><div><strong>Epiphyseal dysplasia, multiple, 7</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1620874</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.">C4540251</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/1620874">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1645042"><div><strong>Ehlers-Danlos syndrome, arthrochalasia type</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1645042</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.">C4551623</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Arthrochalasia-type EDS is distinguished from other types of EDS by the frequency of congenital hip dislocation and extreme joint laxity with recurrent joint subluxations and minimal skin involvement (Byers et al., 1997; Giunta et al., 2008). Genetic Heterogeneity of Arthrochalasia-type Ehlers-Danlos Syndrome See EDSARTH2 (617821), caused by mutation in the COL1A2 gene (120160).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1645042">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1648288"><div><strong>Regressive spondylometaphyseal dysplasia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1648288</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.">C4747922</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Rhizomelic skeletal dysplasia with or without Pelger-Huet anomaly (SKPHA) is an autosomal recessive disorder characterized by rhizomelic skeletal dysplasia of variable severity with or without abnormal nuclear shape and chromatin organization in blood granulocytes (Hoffmann et al., 2002; Borovik et al., 2013; Collins et al., 2020). Initial skeletal features may improve with age (Sobreira et al., 2014).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1648288">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1648332"><div><strong>Osteochondrodysplasia, brachydactyly, and overlapping malformed digits</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1648332</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.">C4748496</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Osteochondrodysplasia, brachydactyly, and overlapping malformed digits (OCBMD) is characterized by bilateral symmetric skeletal defects that primarily affect the limbs. Affected individuals have mild short stature due to shortening of the lower leg bones, as well as hand and foot malformations, predominantly brachydactyly and overlapping digits. Other skeletal defects include scoliosis, dislocated patellae and fibulae, and pectus excavatum (Shabbir et al., 2018).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1648332">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1648291"><div><strong>Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1648291</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.">C4749014</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/1648291">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1683283"><div><strong>Turnpenny-fry syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1683283</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.">C5193060</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Turnpenny-Fry syndrome (TPFS) is characterized by developmental delay, impaired intellectual development, impaired growth, and recognizable facial features that include frontal bossing, sparse hair, malar hypoplasia, small palpebral fissures and oral stoma, and dysplastic 'satyr' ears. Other common findings include feeding problems, constipation, and a range of brain, cardiac, vascular, and skeletal malformations (Turnpenny et al., 2018).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1683283">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1678593"><div><strong>Intellectual developmental disorder 59</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1678593</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.">C5193190</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/1678593">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1840225"><div><strong>Intellectual developmental disorder, X-linked 112</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1840225</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.">C5829589</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">X-linked intellectual disorder-112 (XLID112) is a neurodevelopmental disorder characterized by developmental delay, with speech delay more prominent than motor delay, autism or autism traits, and variable dysmorphic features. Affected females have been reported, which appears to be related to skewed X-inactivation (summary by Hiatt et al., 2023).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1840225">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1841001"><div><strong>Neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1841001</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.">C5830365</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures (NEDLBAS), is characterized by global developmental delay with variably impaired intellectual development apparent from infancy or early childhood. Affected individuals have significant speech delay, and most demonstrate behavioral abnormalities, including autistic features. About half of patients develop seizures, which may be controlled or refractory. More variable features include hypotonia, feeding difficulties, and subtle facial dysmorphism (Schalk et al., 2022).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1841001">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_61234" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Aarskog syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_766164" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Acrodysostosis 2 with or without hormone resistance</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_141594" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Curry-Hall syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_342156" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Digitotalar dysmorphism; ulnar drift, hereditary</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1645042" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ehlers-Danlos syndrome, arthrochalasia type</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (21)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_333092" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Epiphyseal dysplasia, multiple, 2</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_322091" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Epiphyseal dysplasia, multiple, 3</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1620874" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Epiphyseal dysplasia, multiple, 7</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1678593" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Intellectual developmental disorder 59</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1840225" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Intellectual developmental disorder, X-linked 112</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_766745" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Microcephalic primordial dwarfism due to RTTN deficiency</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_7734" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mucopolysaccharidosis, MPS-II</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_325376" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Multiple epiphyseal dysplasia type 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1648291" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1841001" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_220983" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Nicolaides-Baraitser syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1648332" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Osteochondrodysplasia, brachydactyly, and overlapping malformed digits</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_10617" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pelger-Huët anomaly</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1648288" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Regressive spondylometaphyseal dysplasia</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1683283" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Turnpenny-fry syndrome</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/34573342">Attention Deficit Hyperactivity and Autism Spectrum Disorders as the Core Symptoms of AUTS2 Syndrome: Description of Five New Patients and Update of the Frequency of Manifestations and Genotype-Phenotype Correlation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sanchez-Jimeno C,
|
||
Blanco-Kelly F,
|
||
López-Grondona F,
|
||
Losada-Del Pozo R,
|
||
Moreno B,
|
||
Rodrigo-Moreno M,
|
||
Martinez-Cayuelas E,
|
||
Riveiro-Alvarez R,
|
||
Fenollar-Cortés M,
|
||
Ayuso C,
|
||
Rodríguez de Alba M,
|
||
Lorda-Sanchez I,
|
||
Almoguera B</span><br />
|
||
<span class="medgenPMjournal">Genes (Basel)</span>
|
||
2021 Aug 30;12(9)
|
||
doi: 10.3390/genes12091360.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34573342" target="_blank">34573342</a><a href="/pmc/articles/PMC8471078" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29246328">Newborn screening in the United States may miss mild persistent hypothyroidism.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Maahs DM,
|
||
Zeitler P</span><br />
|
||
<span class="medgenPMjournal">J Pediatr</span>
|
||
2018 Jan;192:1-2.
|
||
doi: 10.1016/j.jpeds.2017.11.003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29246328" target="_blank">29246328</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28534114">Pediatric Hypothyroidism: Diagnosis and Treatment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wassner AJ</span><br />
|
||
<span class="medgenPMjournal">Paediatr Drugs</span>
|
||
2017 Aug;19(4):291-301.
|
||
doi: 10.1007/s40272-017-0238-0.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28534114" target="_blank">28534114</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(mild%20short%20stature)%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 (73)</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/37814549">Growth reference charts for children with hypochondroplasia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cheung MS,
|
||
Cole TJ,
|
||
Arundel P,
|
||
Bridges N,
|
||
Burren CP,
|
||
Cole T,
|
||
Davies JH,
|
||
Hagenäs L,
|
||
Högler W,
|
||
Hulse A,
|
||
Mason A,
|
||
McDonnell C,
|
||
Merker A,
|
||
Mohnike K,
|
||
Sabir A,
|
||
Skae M,
|
||
Rothenbuhler A,
|
||
Warner J,
|
||
Irving M</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2024 Feb;194(2):243-252.
|
||
Epub 2023 Oct 9
|
||
doi: 10.1002/ajmg.a.63431.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37814549" target="_blank">37814549</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29130588">Effects of Astragalus Extract Mixture HT042 on Height Growth in Children with Mild Short Stature: A Multicenter Randomized Controlled Trial.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lee D,
|
||
Lee SH,
|
||
Song J,
|
||
Jee HJ,
|
||
Cha SH,
|
||
Chang GT</span><br />
|
||
<span class="medgenPMjournal">Phytother Res</span>
|
||
2018 Jan;32(1):49-57.
|
||
Epub 2017 Nov 12
|
||
doi: 10.1002/ptr.5886.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29130588" target="_blank">29130588</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28663156">Clinical and Genetic Findings of Turkish Hypophosphatasia Cases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sağlam H,
|
||
Erdöl Ş,
|
||
Dorum S</span><br />
|
||
<span class="medgenPMjournal">J Clin Res Pediatr Endocrinol</span>
|
||
2017 Sep 1;9(3):229-236.
|
||
Epub 2017 Jun 30
|
||
doi: 10.4274/jcrpe.4549.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28663156" target="_blank">28663156</a><a href="/pmc/articles/PMC5596804" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26749367">Renal involvement in patients with mucolipidosis IIIalpha/beta: Causal relation or co-occurrence?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tüysüz B,
|
||
Ercan-Sencicek AG,
|
||
Canpolat N,
|
||
Koparır A,
|
||
Yılmaz S,
|
||
Kılıçaslan I,
|
||
Gülez B,
|
||
Bilguvar K,
|
||
Günel M</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2016 May;170A(5):1187-95.
|
||
Epub 2016 Jan 8
|
||
doi: 10.1002/ajmg.a.37543.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26749367" target="_blank">26749367</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/18587396">Gain-of-function mutations in TRPV4 cause autosomal dominant brachyolmia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rock MJ,
|
||
Prenen J,
|
||
Funari VA,
|
||
Funari TL,
|
||
Merriman B,
|
||
Nelson SF,
|
||
Lachman RS,
|
||
Wilcox WR,
|
||
Reyno S,
|
||
Quadrelli R,
|
||
Vaglio A,
|
||
Owsianik G,
|
||
Janssens A,
|
||
Voets T,
|
||
Ikegawa S,
|
||
Nagai T,
|
||
Rimoin DL,
|
||
Nilius B,
|
||
Cohn DH</span><br />
|
||
<span class="medgenPMjournal">Nat Genet</span>
|
||
2008 Aug;40(8):999-1003.
|
||
Epub 2008 Jun 29
|
||
doi: 10.1038/ng.166.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18587396" target="_blank">18587396</a><a href="/pmc/articles/PMC3525077" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Mild%20short%20stature%22%20AND%20Etiology%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (10)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37814549">Growth reference charts for children with hypochondroplasia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cheung MS,
|
||
Cole TJ,
|
||
Arundel P,
|
||
Bridges N,
|
||
Burren CP,
|
||
Cole T,
|
||
Davies JH,
|
||
Hagenäs L,
|
||
Högler W,
|
||
Hulse A,
|
||
Mason A,
|
||
McDonnell C,
|
||
Merker A,
|
||
Mohnike K,
|
||
Sabir A,
|
||
Skae M,
|
||
Rothenbuhler A,
|
||
Warner J,
|
||
Irving M</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2024 Feb;194(2):243-252.
|
||
Epub 2023 Oct 9
|
||
doi: 10.1002/ajmg.a.63431.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37814549" target="_blank">37814549</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34353863">Biallelic GINS2 variant p.(Arg114Leu) causes Meier-Gorlin syndrome with craniosynostosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nabais Sá MJ,
|
||
Miller KA,
|
||
McQuaid M,
|
||
Koelling N,
|
||
Wilkie AOM,
|
||
Wurtele H,
|
||
de Brouwer APM,
|
||
Oliveira J</span><br />
|
||
<span class="medgenPMjournal">J Med Genet</span>
|
||
2022 Aug;59(8):776-780.
|
||
Epub 2021 Aug 5
|
||
doi: 10.1136/jmedgenet-2020-107572.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34353863" target="_blank">34353863</a><a href="/pmc/articles/PMC9340002" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27530454">Somatic mosaicism for a lethal TRPV4 mutation results in non-lethal metatropic dysplasia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Weinstein MM,
|
||
Kang T,
|
||
Lachman RS,
|
||
Bamshad M,
|
||
Nickerson DA,
|
||
Krakow D,
|
||
Cohn DH</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2016 Dec;170(12):3298-3302.
|
||
Epub 2016 Aug 17
|
||
doi: 10.1002/ajmg.a.37942.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27530454" target="_blank">27530454</a><a href="/pmc/articles/PMC5115972" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25748484">A novel syndrome of Klippel-Feil anomaly, myopathy, and characteristic facies is linked to a null mutation in MYO18B.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Alazami AM,
|
||
Kentab AY,
|
||
Faqeih E,
|
||
Mohamed JY,
|
||
Alkhalidi H,
|
||
Hijazi H,
|
||
Alkuraya FS</span><br />
|
||
<span class="medgenPMjournal">J Med Genet</span>
|
||
2015 Jun;52(6):400-4.
|
||
Epub 2015 Mar 6
|
||
doi: 10.1136/jmedgenet-2014-102964.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25748484" target="_blank">25748484</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/7747786">Multiple epiphyseal dysplasia with small head, congenital nystagmus, hypoplasia of corpus callosum, and leukonychia totalis: a variant of Lowry-Wood syndrome?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yamamoto T,
|
||
Tohyama J,
|
||
Koeda T,
|
||
Maegaki Y,
|
||
Takahashi Y</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet</span>
|
||
1995 Mar 13;56(1):6-9.
|
||
doi: 10.1002/ajmg.1320560103.
|
||
<span class="bold">PMID: </span><a href="/pubmed/7747786" target="_blank">7747786</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Mild%20short%20stature%22%20AND%20Diagnosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (23)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/29130588">Effects of Astragalus Extract Mixture HT042 on Height Growth in Children with Mild Short Stature: A Multicenter Randomized Controlled Trial.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lee D,
|
||
Lee SH,
|
||
Song J,
|
||
Jee HJ,
|
||
Cha SH,
|
||
Chang GT</span><br />
|
||
<span class="medgenPMjournal">Phytother Res</span>
|
||
2018 Jan;32(1):49-57.
|
||
Epub 2017 Nov 12
|
||
doi: 10.1002/ptr.5886.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29130588" target="_blank">29130588</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15782302">Long-term follow-up of diffuse membranoproliferative glomerulonephritis type I.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yanagihara T,
|
||
Hayakawa M,
|
||
Yoshida J,
|
||
Tsuchiya M,
|
||
Morita T,
|
||
Murakami M,
|
||
Fukunaga Y</span><br />
|
||
<span class="medgenPMjournal">Pediatr Nephrol</span>
|
||
2005 May;20(5):585-90.
|
||
Epub 2005 Mar 22
|
||
doi: 10.1007/s00467-005-1826-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15782302" target="_blank">15782302</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11746027">Floating-Harbor syndrome in two unrelated girls: mild short stature in one patient and effective growth hormone therapy in the other.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wieczorek D,
|
||
Wüsthof A,
|
||
Harms E,
|
||
Meinecke P</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet</span>
|
||
2001 Nov 15;104(1):47-52.
|
||
doi: 10.1002/ajmg.1585.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11746027" target="_blank">11746027</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Mild%20short%20stature%22%20AND%20Therapy%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (3)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37725936">A Novel, Heterozygous, de novo Splicing Variant Affecting the Intracellular Domain of the Growth Hormone Receptor, and Causing a Mild Short Stature.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Giannakopoulos A,
|
||
Papanastasiou AD,
|
||
Zarkadis IK,
|
||
Andrew SF,
|
||
Rosenfeld RG,
|
||
Efthymiadou A,
|
||
Chrysis D,
|
||
Hwa V</span><br />
|
||
<span class="medgenPMjournal">Horm Res Paediatr</span>
|
||
2024;97(4):397-403.
|
||
Epub 2023 Sep 19
|
||
doi: 10.1159/000534183.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37725936" target="_blank">37725936</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28663156">Clinical and Genetic Findings of Turkish Hypophosphatasia Cases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sağlam H,
|
||
Erdöl Ş,
|
||
Dorum S</span><br />
|
||
<span class="medgenPMjournal">J Clin Res Pediatr Endocrinol</span>
|
||
2017 Sep 1;9(3):229-236.
|
||
Epub 2017 Jun 30
|
||
doi: 10.4274/jcrpe.4549.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28663156" target="_blank">28663156</a><a href="/pmc/articles/PMC5596804" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25381065">Novel COL9A3 mutation in a family diagnosed with multiple epiphyseal dysplasia: a case report.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jeong C,
|
||
Lee JY,
|
||
Kim J,
|
||
Chae H,
|
||
Park HI,
|
||
Kim M,
|
||
Kim OH,
|
||
Kim P,
|
||
Lee YK,
|
||
Jung J</span><br />
|
||
<span class="medgenPMjournal">BMC Musculoskelet Disord</span>
|
||
2014 Nov 8;15:371.
|
||
doi: 10.1186/1471-2474-15-371.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25381065" target="_blank">25381065</a><a href="/pmc/articles/PMC4236474" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22991227">A new structural model of the acid-labile subunit: pathogenetic mechanisms of short stature-causing mutations.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">David A,
|
||
Kelley LA,
|
||
Sternberg MJ</span><br />
|
||
<span class="medgenPMjournal">J Mol Endocrinol</span>
|
||
2012 Dec;49(3):213-20.
|
||
Epub 2012 Oct 12
|
||
doi: 10.1530/JME-12-0086.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22991227" target="_blank">22991227</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15782302">Long-term follow-up of diffuse membranoproliferative glomerulonephritis type I.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yanagihara T,
|
||
Hayakawa M,
|
||
Yoshida J,
|
||
Tsuchiya M,
|
||
Morita T,
|
||
Murakami M,
|
||
Fukunaga Y</span><br />
|
||
<span class="medgenPMjournal">Pediatr Nephrol</span>
|
||
2005 May;20(5):585-90.
|
||
Epub 2005 Mar 22
|
||
doi: 10.1007/s00467-005-1826-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15782302" target="_blank">15782302</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Mild%20short%20stature%22%20AND%20Prognosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (6)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/32460719">A novel COMP mutation in a Chinese family with multiple epiphyseal dysplasia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Shao J,
|
||
Zhao S,
|
||
Yan Z,
|
||
Wang L,
|
||
Zhang Y,
|
||
Lin M,
|
||
Yu C,
|
||
Wang S,
|
||
Niu Y,
|
||
Li X,
|
||
Qiu G,
|
||
Zhang J;
|
||
Deciphering Disorders Involving Scoliosis and COmorbidities (DISCO) study,
|
||
Wu Z,
|
||
Wu N</span><br />
|
||
<span class="medgenPMjournal">BMC Med Genet</span>
|
||
2020 May 27;21(1):115.
|
||
doi: 10.1186/s12881-020-01040-y.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32460719" target="_blank">32460719</a><a href="/pmc/articles/PMC7251693" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29130588">Effects of Astragalus Extract Mixture HT042 on Height Growth in Children with Mild Short Stature: A Multicenter Randomized Controlled Trial.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lee D,
|
||
Lee SH,
|
||
Song J,
|
||
Jee HJ,
|
||
Cha SH,
|
||
Chang GT</span><br />
|
||
<span class="medgenPMjournal">Phytother Res</span>
|
||
2018 Jan;32(1):49-57.
|
||
Epub 2017 Nov 12
|
||
doi: 10.1002/ptr.5886.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29130588" target="_blank">29130588</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28663156">Clinical and Genetic Findings of Turkish Hypophosphatasia Cases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sağlam H,
|
||
Erdöl Ş,
|
||
Dorum S</span><br />
|
||
<span class="medgenPMjournal">J Clin Res Pediatr Endocrinol</span>
|
||
2017 Sep 1;9(3):229-236.
|
||
Epub 2017 Jun 30
|
||
doi: 10.4274/jcrpe.4549.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28663156" target="_blank">28663156</a><a href="/pmc/articles/PMC5596804" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25748484">A novel syndrome of Klippel-Feil anomaly, myopathy, and characteristic facies is linked to a null mutation in MYO18B.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Alazami AM,
|
||
Kentab AY,
|
||
Faqeih E,
|
||
Mohamed JY,
|
||
Alkhalidi H,
|
||
Hijazi H,
|
||
Alkuraya FS</span><br />
|
||
<span class="medgenPMjournal">J Med Genet</span>
|
||
2015 Jun;52(6):400-4.
|
||
Epub 2015 Mar 6
|
||
doi: 10.1136/jmedgenet-2014-102964.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25748484" target="_blank">25748484</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22991227">A new structural model of the acid-labile subunit: pathogenetic mechanisms of short stature-causing mutations.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">David A,
|
||
Kelley LA,
|
||
Sternberg MJ</span><br />
|
||
<span class="medgenPMjournal">J Mol Endocrinol</span>
|
||
2012 Dec;49(3):213-20.
|
||
Epub 2012 Oct 12
|
||
doi: 10.1530/JME-12-0086.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22991227" target="_blank">22991227</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Mild%20short%20stature%22%20AND%20Clinical%20prediction%20guides%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (11)</a></div></div>
|
||
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|
||
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|
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|
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|
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|
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|
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|
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<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
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|
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|
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C3150077%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (5)</a></li>
|
||
<li><a href="/gtr/tests?term=C3150077%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (5)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C3150077%5bDISCUI%5d" target="_blank">See all (5)</a></total></li>
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<div class="portlet_content ln"><ul><li><a href="https://clinicaltrials.gov/search?cond=Mild%20short%20stature" target="_blank">ClinicalTrials.gov</a></li></ul></div>
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