DysmorphicfeatureFromWikipedia,thefreeencyclopediaJumptonavigationJumptosearchMultipledysmorphicfeaturesinapatientwithPitt-Rogers-Dankssyndrome:microcephalia,micrognathiaandprotrusionoftheeyeballsAdysmorphicfeatureisanabnormaldifferenceinbodystructure.Itcanbeanisolatedfindinginanotherwisenormalindividual,oritcanberelatedtoacongenitaldisorder,geneticsyndromeorbirthdefect.Dysmorphologyisthestudyofdysmorphicfeatures,theiroriginsandpropernomenclature.Oneofthekeychallengesinidentifyinganddescribingdysmorphicfeaturesistheuseandunderstandingofspecifictermsbetweendifferentindividuals.[1]Clinicalgeneticistsandpediatriciansareusuallythosemostcloselyinvolvedwiththeidentificationanddescriptionofdysmorphicfeatures,asmostareapparentduringchildhood.Dysmorphicfeaturescanvaryfromisolated,mildanomaliessuchasclinodactylyorsynophrystoseverecongenitalanomalies,suchasheartdefectsandholoprosencephaly.Insomecases,dysmorphicfeaturesarepartofalargerclinicalpicture,sometimesknownasasequence,syndromeorassociation.[2]Recognizingthepatternsofdysmorphicfeaturesisanimportantpartofageneticist'sdiagnosticprocess,asmanygeneticdiseasepresentwithacommoncollectionoffeatures.[1]Thereareseveralcommerciallyavailabledatabasesthatallowclinicianstoinputtheirobservedfeaturesinapatienttogenerateadifferentialdiagnosis.[1][3]Thesedatabasesarenotinfallible,astheyrequireonthecliniciantoprovidetheirownexperience,particularlywhentheobservedclinicalfeaturesaregeneral.Amalechildwithshortstatureandhypertelorismcouldhaveseveraldifferentdisorders,asthesefindingsarenothighlyspecific.[1]Howeverafindingsuchas2,3-toesyndactylyraisestheindexofsuspicionforSmith-Lemli-OpitzSyndrome.[4]Mostopensourceprojectsthatperformphenotype-drivendiseaseorgeneprioritizationworkwiththeterminologyoftheHumanPhenotypeOntology.Thiscontrolledvocabularycanbeusedtodescribetheclinicalfeaturesofapatientandissuitableformachinelearningapproaches.Publiclyaccessibledatabasesthatlabsusetodeposittheirdiagnosticfindings,suchasClinVar,canbeusedtobuildknowledge

Dysmorphic features may result from a perturbation of human development.9 This perturbation can be a direct effect of a genetic mutation or ...Advertisement<< PreviousarticleNextarticle >>Nov1,2012Issue  WhentoSuspectaGeneticSyndrome BENJAMIND.SOLOMON,MD,andMAXIMILIANMUENKE,MD,NationalHumanGenomeResearchInstitute,Bethesda,MarylandAmFamPhysician. 2012 Nov 1;86(9):826-833.AbstractDysmorphicFeaturesClusterofFindingsNeurocognitiveImpairmentSuspiciousFamilyHistoryGeneticTestingandReferralReferencesArticleSectionsAbstractDysmorphicFeaturesClusterofFindingsNeurocognitiveImpairmentSuspiciousFamilyHistoryGeneticTestingandReferralReferencesFamilyphysiciansshouldbeabletorecognizefindingsonphysicalexaminationandhistorythatsuggestthepresenceofageneticsyndrometoaidinthediagnosisandtreatmentofpotentiallyaffectedpatients,aswellassubspecialtyreferral.Generalthemesthatcanalertfamilyphysicianstothepresenceofgeneticconditionsincludedysmorphicfeaturesthatareevidentonphysicalexamination;multipleanomaliesinonepatient;unexplainedneurocognitiveimpairment;andafamilyhistorythatissuggestiveofahereditarydisease.Thepresenceofoneobviousmalformationshouldnotlimitthefullevaluation,becauseadditional,subtlerfindingswilloftenbeimportantinthedifferentialdiagnosis.Takinganaccuratethree-generationfamilyhistoryisinvaluablewhenconsideringageneticsyndrome.Importantelementsincludetheageandsexoffamilymembers;whenfamilymemberswereaffectedbydiseaseorwhentheydied;theethnicbackground;andifthereisconsanguinity.Geneticsubspecialistscanassistfamilyphysiciansindiagnosis,suggestadditionaltestingandreferralsifwarranted,helpdirectmedicalcare,andprovidecounselingforaffectedpatientsandtheirfamilies.Althoughmanygeneticconditionsareindividuallyrare,theyarecommoninaggregateandplaceagreatburdenonaffectedpatientsandthemedicalsystem.1–3Congenitalmalformations(manyofwhicharerelatedtogeneticdisturbances)occurinapproximately5percentoflive-borninfants;amuchhigherproportionofconceptionsareaffectedbygeneticanomalies.4,5Inonestudy,ane

Individual dysmorphic features ... Features often noted in children exposed to valproate were medial deficiency of eyebrows, infraorbital grooves, ...NCBISkiptomaincontentSkiptonavigationResourcesHowToAboutNCBIAccesskeysMyNCBISignintoNCBISignOutTryoutPMCLabsandtelluswhatyouthink.LearnMore.JournalListArchDisChildFetalNeonatalEdv.91(2);2006MarPMC2672688ArchDisChildFetalNeonatalEd.2006Mar;91(2):F90–F95.doi: 10.1136/adc.2004.067421PMCID:PMC2672688PMID:16239295Dysmorphicfeatures:animportantcluetothediagnosisandseverityoffetalanticonvulsantsyndromesUKini,NAdab,JVinten,AFryer,andJClayton‐Smith,onbehalfoftheLiverpoolandManchesterNeurodevelopmentalStudyGroupAuthorinformationArticlenotesCopyrightandLicenseinformationDisclaimerUKini,JClayton‐Smith,AcademicUnitofMedicalGenetics,StMary'sHospital,Manchester,UKNAdab,JVinten,UniversityDepartmentofNeurosciences,Liverpool,UKAFryer,DepartmentofClinicalGenetics,AlderHeyHospital,Liverpool,UKCorrespondenceto:DrKiniAcademicUnitofMedicalGenetics,StMary'sHospital,HathersageRoad,ManchesterM130JH,UK;usha.kini@orh.nhs.ukThemembersoftheLiverpoolandManchesterNeurodevelopmentalStudyGroupareNAdab,UKini,JVinten,JAyres,GBaker,JClayton‐Smith,HCoyle,AFryer,JGorry,JGregg,GMawer,PNicolaides,LPickering,LTunnicliffe,DWChadwick.Accepted2005Aug16.Copyright©2006BMJPublishingGroup&RoyalCollegeofPaediatricsandChildHealthThisarticlehasbeencitedbyotherarticlesinPMC.BackgroundInuteroexposuretoantiepilepticdrugs(AEDs)canresultinseveraldifferentteratogeniceffectsincludingmajormalformations,dysmorphicfacialfeatures,andlearningandbehaviouralproblems.Itisestimatedthatthereisa2–3‐foldincreaseintheriskofmalformationscomparedwiththegeneralpopulation.Theriskofcognitiveimpairmentandbehaviouralproblemsislessclear.ObjectiveToreportthefrequencyandspecificityofindividualdysmorphicfeaturesandtorelatethedysmorphicfacialphenotypetodevelopmentaloutcome.MethodsAretrospectivestudyof375childrenbornto219motherswithepilepsy.Theageofthestudygrouprangedfrom6 monthsto16years.Eachchildunde

DS is characterized by a variety of dysmorphic features, congenital malformations, and other health problems and medical conditions.

a congenital abnormality; growth abnormalities; dysmorphic features. Checklists below will assist with: taking a history and examining an infant with a ...SkiptomaincontentMainnavigationBreadcrumbHomeClinicalguidanceNeonatalDysmorphologyassessmentinneonatesDysmorphologyassessmentinneonatesSharethisSharethispageonTwitterSharethispageonFacebookSharethispageonLinkedinSharethispagebyEmailKeymessagesAdysmorphologyassessmentrequiresathoroughanddetailedphysicalexamination.Ancillaryinvestigationsmaybeuseful.Chromosomeandgenetictestsmaybewarrantedincertaincircumstances.Overcomeanyreluctancetodiscussyourassessmentwiththefamily,butmakesureyouusesensitivelanguage.OnthispageExaminationchecklistInvestigations-whentodowhat?CommunicationstrategieswithparentsMoreinformationPleasenotethatallguidanceiscurrentlyunderreviewandsomemaybeoutofdate.Werecommendthatyoualsorefertomorecontemporaneousevidenceintheinterim.Adysmorphologyassessmentofanewbornfocusesonaspectsofhistory,physicalexaminationandinvestigationsthatmayleadtoasyndromediagnosis.Thisassessmentshouldbecarriedoutonachildwithanyofthefollowing:acongenitalabnormalitygrowthabnormalitiesdysmorphicfeatures.Checklistsbelowwillassistwith:takingahistoryandexamininganinfantwithadysmorphologyfocusdescriptionsofinvestigationsthatthepaediatricianshouldconsideraspartofadysmorphologywork-up.Formanydoctors, discussingissuesrelatingtosyndromediagnosisanddysmorphismwithparents canbedifficult,andsomesuggestionsareoutlinedbelow.HistorychecklistUsethischecklisttotakeadetailedhistoryofthemotherandinfant:obstetrichistoryrecurrentmiscarriagesuterineabnormalitiespregnancyhistorynoteexposuretoanyteratogenshistoryofmaternalalcoholorrecreationaldrugexposureamnioticfluidvolumeresultsofultrasoundandamniocentesis/CVSfetalgrowthandmovementsmaternalillness,medicaldiagnosesandmedicationstakenbirthhistoryApgarscores,resuscitationrequiredfamilyhistoryofabnormalities,stillbirths,childhooddeathsconsanguinity.ExaminationchecklistThefollowingfocusesontheexaminationford

NewPatients:02087481381|ExistingPatients:02087481381BookOnlineMENUMENUHomeAboutUsWhyChooseUsFreeTreatmentConsultationMeetOurTeamPracticeGalleryOurServicesGeneralDentistryDentalCheck-UpsHygieneAppointmentsFillingsCrownsBridgesToothGrindingMouthGuardsEmergenciesCosmeticDentistryOrthodonticsInvisalignFixedBracesTeethWhiteningVeneersSpecialistDentistryDentalImplantsEndodonticsPeriodonticsExtractionsNervousPatientsSleepDisordersPreventativeDentistryFeeGuideReviewsReferralsBlogContactUsBookOnlineMENUMENUHomeAboutUsWhyChooseUsFreeTreatmentConsultationMeetOurTeamPracticeGalleryOurServicesGeneralDentistryDentalCheck-UpsHygieneAppointmentsFillingsCrownsBridgesToothGrindingMouthGuardsEmergenciesCosmeticDentistryOrthodonticsInvisalignFixedBracesTeethWhiteningVeneersSpecialistDentistryDentalImplantsEndodonticsPeriodonticsExtractionsNervousPatientsSleepDisordersPreventativeDentistryFeeGuideReviewsReferralsBlogContactUsBookOnlineWhatisFacialDysmorphia?RonaldBaise19,Jan2018GeneralMichaelJackson’srepeatedsurgeriesisthoughttobecausedbyFacialDysmorphiaFacialdysmorphiaisamentalhealthconditionwherethesuffererhasawarpedperceptionoftheappearanceoftheirface.Thiscommonlyincludesdistortedviewsonhowtheirnose,skinandteethlook.Theseinaccurate,andalmostalwaysnegative,self-perceptionscanleadtopeoplewithfacialdysmorphiaobsessingovercertainfeaturesoftheirphysicalappearancetothepointwhereitseverelyimpactstheirlives.Thefixationswiththeirimaginedphysicalflawscanbethesourceofimmenseanxietyforpeoplewithfacialdysmorphia.Inextremecases,theillnesscanleadtopeoplebecominghouse-boundinanattempttohidetheirdespisedappearance,orevenmutilatingthemselvesasaformof“DIY”cosmeticsurgery.Itisthoughtthat20%ofpeoplewithfacialorbodydysmorphiaendupcommittingsuicide.Practitionersestimatethataround2%ofthepopulationsufferfromfacialorbodydysmorphia.Malesandfemalesareequallyaslikelytohavetheillness.Thecausesoftheillnessarepoorlyunderstood,howeveritisfarmorelikelytooccurinpeoplewhohavebeenphysicallyand/oremotionallyabusedaschild

SkiptomaincontentYouarehereHomedysmorphicfaciesSearchForADisorderClinicalCharacteristicsOcularFeatures: Anumberofnondiagnosticsignsoccurintheperiocularstructuresaspartofthegeneralfacialdysmorphism. Thereisageneralfullnesstotheperioculararea,mostevidentintheuppereyelids. Thelidfissuresslantdownwardandtheeyebrowsaresparse. Strabismusisoftenpresent. Ptosishasbeennotedinafewindividuals.SystemicFeatures: Systemicsignsareinconsistentandhighlyvariable. Intrauterinegrowthisusuallybelowaverage. Feedingproblemsareevidentfrombirth. Thefacialdysmorphologyishighlightedbyahigh,broadforeheadandaccentuatedbymicrognathiaandmidfacehypoplasia. Theearsareposteriorlyrotated. Generaldevelopmentisdelayedandmilestones,ifachieved,aredelayed. Behavioralproblemscanbemanifestasanxietyandsomeindividualshavefeaturesoftheautismspectrum. Abnormalmovementssuchastremoranddystoniaaresometimespresent.Brainimagingmayrevealdelayedmyelination,frontalgliosis,whitematterabnormalities,andenlargedventricles.GeneticsHeterozygousmutationsintheYY1gene(14q32)havebeenidentifiedinthiscondition. Thegeneisatranscriptionfactorthatactsbothasarepressorandanactivatorinspecificcircumstances. Virtuallyallcasesoccurdenovo.Pedigree: AutosomaldominantTreatmentTreatmentOptions: Noeffectivegeneralizedtreatmenthasbeenreported.ReferencesArticleTitle: GabrieleM,Vulto-vanSilfhoutAT,GermainPL,VitrioloA,KumarR,DouglasE,HaanE,KosakiK,TakenouchiT,RauchA,SteindlK,FrengenE,MisceoD,PedurupillayCRJ,StrommeP,RosenfeldJA,ShaoY,CraigenWJ,SchaafCP,Rodriguez-BuriticaD,FarachL,FriedmanJ,ThulinP,McLeanSD,NugentKM,MortonJ,NichollJ,AndrieuxJ,Stray-PedersenA,ChambonP,PatrierS,LynchSA,KjaergaardS,TorringPM,Brasch-AndersenC,RonanA,vanHaeringenA,AndersonPJ,PowisZ,BrunnerHG,PfundtR,Schuurs-HoeijmakersJHM,vanBonBWM,LelieveldS,GilissenC,NillesenWM,VissersLELM,GeczJ,KoolenDA,TestaG,deVriesBBA.YY1HaploinsufficiencyCausesanIntellectualDisabilitySyndromeFeaturingTranscriptionalandChromatinDysfunction.AmJHumGenet.2017Jun1;100(6):907-925.PubMedID: 28575647Read