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