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or association. Recognizing the patterns of dysmorphic features is an important part of a geneticist's diagnostic process, as many genetic disease present with a common collection of features. There are several commercially available databases that allow clinicians to input their observed features in
484:
Hsieh, Tzung-Chien; Bar-Haim, Aviram; Moosa, Shahida; Ehmke, Nadja; Gripp, Karen W.; Pantel, Jean Tori; Danyel, Magdalena; Mensah, Martin Atta; Horn, Denise; Fleischer, Nicole; Bonini, Guilherme (2021-01-04). "GestaltMatcher: Overcoming the limits of rare disease matching using facial phenotypic
348:
Peng, Chengyao; Dieck, Simon; Schmid, Alexander; Ahmad, Ashar; Knaus, Alexej; Wenzel, Maren; Mehnert, Laura; Zirn, Birgit; Haack, Tobias; Ossowski, Stephan; Wagner, Matias; Brunet, Teresa; Ehmke, Nadja; Danyel, Magdalena; Rosnev, Stanislav; Kamphans, Tom; Nadav, Guy; Fleischer, Nicole; Fröhlich,
58:. Dysmorphology is the study of dysmorphic features, their origins and proper nomenclature. One of the key challenges in identifying and describing dysmorphic features is the use and understanding of specific terms between different individuals.
90:
a patient to generate a differential diagnosis. These databases are not infallible, as they require on the clinician to provide their own experience, particularly when the observed clinical features are general. A male child with
113:. This controlled vocabulary can be used to describe the clinical features of a patient and is suitable for machine learning approaches. Publicly accessible databases that labs use to deposit their diagnostic findings, such as
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approaches that assist geneticists in the study of the facial gestalt. Training and test data for clinicians and computer scientists in order to compare the performance of new AIs can be obtained from
429:
Gurovich, Yaron; Hanani, Yair; Bar, Omri; Nadav, Guy; Fleischer, Nicole; Gelbman, Dekel; Basel-Salmon, Lina; Krawitz, Peter M.; Kamphausen, Susanne B.; Zenker, Martin; Bird, Lynne M. (January 2019).
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is the discipline of using dysmorphic features in the diagnostic workup and delineation of syndromic disorders. In the recent years advances in computer vision have also resulted in several
370:
Ferry, Quentin; Steinberg, Julia; Webber, Caleb; FitzPatrick, David R; Ponting, Chris P; Zisserman, Andrew; NellĂĄker, Christoffer (2014-06-24). Tollman, Stephen (ed.).
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Nowaczyk, M. J.; Waye, J. S. (2001). "The Smith-Lemli-Opitz syndrome: A novel metabolic way of understanding developmental biology, embryogenesis, and dysmorphology".
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Fryns, J.-P.; De Ravel, T. D. (2002). "London
Dysmorphology Database, London Neurogenetics Database and Dysmorphology Photo Library on CD-ROM \Version 3] 2001".
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are usually those most closely involved with the identification and description of dysmorphic features, as most are apparent during childhood.
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24:
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Holger; Krawitz, Peter (2021). "CADA: Phenotype-driven gene prioritization based on a case-enriched knowledge graph". pp. lqab078.
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is an abnormal difference in body structure. It can be an isolated finding in an otherwise normal individual, or it can be related to a
237:
Maitra, Anirban; Kumar, Vinay (2004). "Diseases of
Infancy and Childhood". In Kumar, Vinay; Abbas, Abul L.; Fausto, Nelson (eds.).
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Most open source projects that perform phenotype-driven disease or gene prioritization work with the terminology of the
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could have several different disorders, as these findings are not highly specific. However a finding such as 2,3-toe
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Dysmorphic features are invariably present from birth, although some are not immediately apparent upon
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81:. In some cases, dysmorphic features are part of a larger clinical picture, sometimes known as a
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132:(abnormal development), disruptions (damage to previously normal tissue),
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431:"Identifying facial phenotypes of genetic disorders using deep learning"
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128:. They can be divided into groups based on their origin, including
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Dysmorphic features can vary from isolated, mild anomalies such as
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Archives of
Disease in Childhood: Fetal and Neonatal Edition
241:(7th ed.). Philadelphia: Elsevier. pp. 469–508.
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to severe congenital anomalies, such as heart defects and
140:(abnormal growth or organization within a tissue).
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23:Multiple dysmorphic features in a patient with
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102:raises the index of suspicion for
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185:Reardon, W.; Donnai, D. (2007).
35:and protrusion of the eyeballs
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492:10.1101/2020.12.28.20248193v1
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187:"Dysmorphology demystified"
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104:Smith–Lemli–Opitz syndrome
25:Pitt–Rogers–Danks syndrome
447:10.1038/s41591-018-0279-0
276:10.1007/s00439-002-0759-6
111:Human Phenotype Ontology
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117:, can be used to build
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60:Clinical geneticists
389:10.7554/eLife.02020
45:congenital disorder
41:dysmorphic feature
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307:Clinical Genetics
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126:visual inspection
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382:: e02020.
270:(1): 113.
163:References
138:dysplasias
100:syndactyly
455:1546-170X
398:2050-084X
75:synophrys
471:57574514
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416:24963138
327:11453964
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221:17449858
87:syndrome
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335:9146017
212:2675338
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