Genetics & Congenital Disorders
Seckel Syndrome: Symptoms, Causes & What to Know
Seckel syndrome is a congenital condition, meaning it is present from birth. It belongs to a group of disorders known as …
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
Schwartz-Jampel Syndrome: Symptoms, Types & Care
Schwartz-Jampel syndrome is a condition a person is born with. It is caused by changes in specific genes that affect how muscles …
Genetics & Congenital Disorders
Rapp-Hodgkin Syndrome: Symptoms, Causes & Care
Rapp-Hodgkin syndrome is also known as anhidrotic ectodermal dysplasia. The word “anhidrotic” refers to little or no sweating.
Genetics & Congenital Disorders
Opitz Syndrome: Causes, Symptoms & Diagnosis
Opitz syndrome is a congenital disorder, meaning it is present from birth. It affects structures that develop from a specific …
Genetics & Congenital Disorders
Nance-Horan Syndrome: Symptoms, Causes & Treatment
Nance-Horan syndrome is a congenital condition, meaning it is present at birth. It is caused by a change (mutation) in a gene …
Genetics & Congenital Disorders
Marfan Syndrome: Causes, Symptoms & Treatment
Marfan syndrome affects the body’s connective tissue. Connective tissue acts like a support network, linking organs and holding …
Genetics & Congenital Disorders
Loeys-Dietz Syndrome: Causes, Symptoms & Treatment
Loeys-Dietz syndrome was first described in 2005. It shares some features with Marfan syndrome and Ehlers-Danlos syndrome.
Genetics & Congenital Disorders
Klinefelter Syndrome: Causes, Symptoms & Treatment
Normally, males have one X chromosome and one Y chromosome (XY). A male with Klinefelter syndrome typically has two X chromosomes …
Genetics & Congenital Disorders
Gillespie Syndrome: Symptoms, Causes & Diagnosis
Gillespie syndrome is a rare genetic condition that doctors classify under congenital disorders — meaning it is present from …
Genetics & Congenital Disorders
Ellis-van Creveld Syndrome: Symptoms, Causes & Care
Ellis-van Creveld syndrome goes by a few other names, including chondroectodermal dysplasia and mesoectodermal dysplasia.