Empowering Parents with Knowledge and Tools to Navigate Genetic Disorders
Complete our online AI-based assessment and receive more information on possible causes and recommendations on how to assist your child.
Chromosomal microdeletion syndromes are those caused by chromosomal deletions involving several genes. Chromosomal deletion occurs when parts of a chromosome (of which each cell of the body has 46, 23 pairs) are missing or deleted. Even the smallest part of a chromosome can contain many genes, and a deletion of this part of the chromosome can affect several genes.
Chromosomal abnormalities are the cause of many rare diseases, and other inherited diseases. These rare diseases often present with multiple symptoms, some of them congenital and present at birth, while others may develop later in childhood or adulthood.
The symptoms of Tay-Sachs are a set of symptoms unique to this individual genetic syndrome. Tay-Sachs is a genetic syndrome, also known as a rare disease. It is usually identified during infancy, and in many cases it is fatal, with a life expectancy of no more than a few years following birth.
Single gene disorders are some of the most well-known, and researched rare diseases. This is because their causes are easily understood, and the way in which they are inherited is considered to be very clear and simple.
Genetic inheritance determines how gene mutations, and chromosomal abnormalities, are passed down from parent to child. How these mutations are inherited will determine a child’s risk factor for developing a rare disease, if one or both of their parents are carriers. The types of genetic inheritance determine if and how a rare disease is passed down.
A fertilized egg is made up of 23 chromosomes from the mother and 23 from the father. This then means that there are 46 chromosomes, and 23 pairs of chromosomes altogether. These chromosomes include the chromosomes that determine the sex of an individual- XX for a female and XY for a male.
Turner syndrome is a rare genetic syndrome that occurs in girls. Some girls with the syndrome have a missing X chromosome on their 23rd pair of chromosomes. This is usually caused by an error that occurs during the formation of the egg or sperm. In other individuals with the syndrome, it is caused by a missing part of the X chromosome in some of the cells of the X chromosome.
Fabry disease is the result of mutations in the GLA gene. This mutation causes an affected individual’s body to fail to produce an enzyme known as a-galactosidase A, or it prevents this enzyme from working properly. This then leads to a build-up of glycosphingolipids in the body’s cells, which damages different parts of the body, triggering the many different symptoms of the syndrome.
A delayed diagnosis is when a patient has had to wait an extended period of time to diagnose a disease or health condition. Some diseases are diagnosed quickly – Diabetes, for example, is a disease with many affected individuals worldwide. There is a great deal of awareness among the medical community and the general public about the causes and symptoms of diabetes. There are also several different testing options for the disease that make a fast diagnosis possible.