title: Genetic emergencies in pediatrics.
abstract: Genetic emergencies like other medical emergencies require immediate intervention to alter the outcome of the condition in the patient and its effect upon the family. The representative conditions of myelomeningocele, Down's syndrome, cleft lip and palate and adrenogenital syndrome serve to illustrate the need  for rapid and comprehensive intervention. Recognition that an emergency exists when a child with a birth defect is born and responsive thoughtful action including family counseling can significantly alter the life of the patient and his family.
mesh_terms: D000312:Adrenal Hyperplasia, Congenital / Q000175:diagnosis; D002971:Cleft Lip / Q000628:therapy; D002972:Cleft Palate / Q000628:therapy; D000013:Congenital Abnormalities / Q000235:genetics / Q000628:therapy*; D003422:Critical Care; D004314:Down Syndrome / Q000628:therapy; D004630:Emergencies; D005260:Female; D005817:Genetic Counseling; D006801:Humans; D007231:Infant, Newborn; D008591:Meningomyelocele / Q000628:therapy; D011247:Pregnancy; D011296:Prenatal Diagnosis; D011379:Prognosis