Genetics

Abstract

Genetic disorders are common in paediatric practice. Genetic conditions cause a range of clinical problems including congenital malformations, metabolic disorders, learning disability, and neurological disease. With over 5000 different genetic conditions, almost every aspect of paediatrics will involve managing children with genetic disorders. Clinical geneticists can offer expertise both in diagnosing rare and ultra-rare genetic disorders and advising families with known genetic disorders. Paediatric surgeons, and in particular neonatal surgical practice, will continue to become more involved with the subspecialty of clinical genetics as the surgeons encounter conditions with a known genetic background more frequently. Exciting new technological advances to investigate the genetic basis of these conditions are becoming available to an increasing breadth of specialties including paediatric surgery. Close liaison between paediatric surgeons and clinical geneticists will be essential in managing these patients.