Suspected genetic disease.
To formulate an accurate diagnosis and provide adequate management of genetic problems associated with ear malformations or hearing loss, the otolaryngologist must have an awareness of possible genetic causes of these disorders. Careful evaluation of the family history as well as examination or testing of family members might be required to arrive at a correct diagnosis. The clinical geneticist can provide assistance to the clinician with contemporary information about additional useful diagnostic studies, the possibility of prenatal diagnosis of the disorder, or in the process of genetic counseling so as to enhance the family's overall adjustment to the problem.
D000015:Abnormalities, Multiple / Q000235:genetics; D002869:Chromosome Aberrations / Q000175:diagnosis / Q000235:genetics; D025063:Chromosome Disorders; D004423:Ear / Q000002:abnormalities; D005260:Female; D005817:Genetic Counseling; D006311:Hearing Disorders / Q000235:genetics; D006801:Humans; D008297:Male; D010038:Otorhinolaryngologic Diseases / Q000175:diagnosis / Q000235:genetics*; D011247:Pregnancy; D011296:Prenatal Diagnosis; D012306:Risk; D012729:Sex Chromosome Aberrations / Q000175:diagnosis