Polycystic kidney disease (PKD) is a kidney condition where a person develops multiple benign cysts in the kidneys and other organs. Cyst growth in the kidneys can lead to kidney…

Down syndrome is a chromosome disorder associated with intellectual disability, a characteristic facial appearance with a small nose and an upward slant to the eyes, and low muscle tone in…

Rubinstein-Taybi syndrome (RSTS) is a rare genetic disorder. It is estimated that it affects about 1 case per 100,000 newborns. Weight and length are normal at birth, but growth is slow in infancy and childhood with the mean final height significantly less than average.

Cornelia-de-Lange syndrome (CdLS) is a rare genetic disorder that is generally apparent at birth (congenital). Other signs and symptoms that are often present are slow physical growth before and after…

We do not know exactly what causes Parkinson's disease (PD), but scientists believe that a combination of genetic and environmental factors is the cause. The extent to which each factor…

Autism spectrum disorder (ASD) is a neurological condition that affects a person’s behaviour, ability to communicate, and social interaction skills. People with autism spectrum disorder understand and interact with the…

Neurofibromatosis is a genetic disease that causes tumours to form on nerve tissue. These tumours can develop anywhere in the nervous system, including the brain, spinal cord, and nerves. The tumours in these disorders are usually non-cancerous (benign), but sometimes can become cancerous (malignant). Symptoms are often mild. However, complications of neurofibromatosis can include hearing loss, learning impairment, cardiovascular problems, loss of vision, and severe pain.

Fragile X syndrome is a genetic disorder that affects the brain and other parts of the body. It is caused by a mutation in the FMR1 gene on the X chromosome, which makes a protein needed for normal cell function. The mutation can cause the gene to have too many repeats of a DNA segment called CGG, which can turn off the gene and stop making the protein. This leads to intellectual disability, physical features, and behavioral problems in affected individuals. The disorder is more common and severe in males than females, and can also affect their parents and grandparents in different ways.