Genetics & Congenital Disorders
Ehlers-Danlos Syndrome: Symptoms, Types & Treatment
Ehlers-Danlos syndrome (EDS) is not a single condition — it is a group of at least six distinct types.
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
Down Syndrome: Causes, Symptoms & What to Expect
Down syndrome is one of the most common genetic conditions in Canada. It occurs when a child is born with an extra copy of …
Genetics & Congenital Disorders
Delleman Syndrome: Symptoms, Causes & Care
Delleman syndrome is a complex condition that a baby is born with. It involves a combination of abnormalities in three main areas: …
Genetics & Congenital Disorders
Angelman Syndrome: Symptoms, Causes & Treatment
Angelman syndrome is caused by a problem with a gene on chromosome 15, called the UBE3A gene. This gene plays an important role in …
Genetics & Congenital Disorders
Adams-Oliver Syndrome: Symptoms, Causes & Treatment
Adams-Oliver syndrome was first described in 1945. Since then, fewer than 125 cases have been recorded in medical literature …
Genetics & Congenital Disorders
Progeria: Causes, Symptoms & Treatment in Children
Progeria is a progressive genetic condition that dramatically speeds up the ageing process in children.
Genetics & Congenital Disorders
Malignant Hyperthermia: Causes, Symptoms & Treatment
Malignant hyperthermia is a genetic condition passed down through families. It follows an autosomal dominant inheritance pattern.
Genetics & Congenital Disorders
Hemochromatosis: Causes, Symptoms & Treatment
Your body needs iron to make haemoglobin, the protein in red blood cells that carries oxygen.
Genetics & Congenital Disorders
Phenylketonuria (PKU): Causes, Symptoms & Treatment
PKU is a genetic condition where the body cannot properly break down an amino acid called phenylalanine.
Genetics & Congenital Disorders
Gaucher Disease: Symptoms, Causes & Treatment
Gaucher disease happens when the body does not make enough of an enzyme called glucocerebrosidase.