Genetics & Congenital Disorders
Fragile X Syndrome: Causes, Symptoms & Treatment
Fragile X syndrome is caused by a change, or mutation, in a single gene called FMR1. This gene sits on the X chromosome.
Canada Health Journal
Genetics-Congenital-Disorders
Evidence-based health articles researched by our editorial team and sourced from trusted Canadian and international health authorities.
Genetics & Congenital Disorders
WAGR Syndrome: Symptoms, Diagnosis & Treatment
WAGR syndrome gets its name from the four main conditions it involves. The letters stand for Wilms tumour, Aniridia, Genital or …
Genetics & Congenital Disorders
Turner Syndrome: Causes, Symptoms & Treatment
Turner syndrome is sometimes called gonadal dysgenesis. It happens when a girl is born with only one fully functioning X …
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 …
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.
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.
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.
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.
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.
Genetics & Congenital Disorders
Hypospadias in Children: Causes, Treatment & Care
In a typical male anatomy, the urethral opening sits at the very tip of the penis. In hypospadias, that opening forms somewhere …
Genetics & Congenital Disorders
Genetic Testing: What Canadians Need to Know
Genes are small sections of your cells that carry biological information. They act like a set of instructions that control how …
Genetics & Congenital Disorders
Muscular Dystrophy: Causes, Symptoms & Treatment
Muscular dystrophy refers to more than nine distinct diseases — and over 100 similar conditions — that all share one key feature: …
Genetics & Congenital Disorders
Rare Genetic Disorders: Symptoms, Causes & Treatment
A disease is considered “rare” when it affects fewer than 1 in 2,000 people. However, there are thousands of rare diseases …
Genetics & Congenital Disorders
Rare Genetic Disorders: Symptoms, Types & Care
A rare disease is generally defined as one that affects fewer than 1 in 2,000 people. However, when you add up all rare diseases …