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