Genetics & Congenital Disorders
Canavan Disease: Symptoms, Causes & Genetic Testing
Canavan disease is a genetic condition caused by a mutation in a single gene on chromosome 17.
Medical Author
Dr. Sarah Mitchell, MD
Family Physician · Canada Health Journal
Dr. Sarah Mitchell is a board-certified family physician with over 15 years of clinical experience. She completed her MD at the University of Toronto and her residency at Toronto General Hospital. Dr. Mitchell specializes in preventive medicine and chronic disease management. She is a member of the College of Family Physicians of Canada (CFPC) and has published over 30 peer-reviewed articles on preventive health care.
Articles by Dr. Sarah Mitchell, MD
Genetics & Congenital Disorders
Canavan Disease: Symptoms, Causes & Treatment
Canavan disease is a progressive neurological condition. That means it gets worse over time, gradually destroying brain tissue.
Genetics & Congenital Disorders
Pfeiffer Syndrome: Causes, Types, and Treatment
Normally, a baby’s skull bones stay separate until the brain finishes growing. However, in children with Pfeiffer syndrome, these …
Genetics & Congenital Disorders
Missing Teeth Disorders: Anodontia, Hypodontia & Oligodontia
Missing teeth disorders are conditions where a person is born without some or all of their teeth.
Genetics & Congenital Disorders
Amelogenesis Imperfecta: Causes, Types & Treatment
Amelogenesis imperfecta is not a single disease. Rather, it is a group of inherited conditions that all share one thing in common: …
Genetics & Congenital Disorders
Albinism: Symptoms, Causes & Types Explained
Albinism belongs to a group of genetic disorders that affect how the body produces melanin.
Genetics & Congenital Disorders
Agenesis of the Corpus Callosum: Causes, Symptoms & Care
The corpus callosum is a C-shaped structure made up of millions of nerve fibres. These fibres act like a bridge, carrying messages …
Genetics & Congenital Disorders
Tetralogy of Fallot: Causes, Symptoms & Treatment
Tetralogy of Fallot is a combination of four heart abnormalities that develop before birth.
Genetics & Congenital Disorders
Treacher Collins Syndrome: Causes, Symptoms & Care
Treacher Collins syndrome is a congenital disorder, meaning a person is born with it. It affects the shape and size of certain …
Genetics & Congenital Disorders
Rare Genetic Syndromes: Symptoms, Causes & Care
A genetic syndrome is a group of signs and symptoms caused by a change in one or more genes.