Empowering Parents with Knowledge and Tools to Navigate Genetic Disorders
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Ehlers-Danlos is a complicated genetic disorder, of which there are currently 13 major types identified. Ehlers-Danlos affects the connective tissue of the body. Connective tissue supports and structures the skin, blood, organs, bones and blood vessels of the body. Ehlers Danlos causes issues with collagen production, affecting multiple parts and systems of the body.
Recognized as one of the most common genetic syndromes, and chromosomal abnormality disorders, Down syndrome has a prevalence, in the US, of around 1 in every 700 live births. This makes it one of the most common of genetic syndromes, and it is definitely the most well-known.
Fragile X is a rare disease, and a member of a recognized family of genetic disorders caused by the partial or complete mutation of a specific gene. In the case of Fragile X this mutation affects the FMR1 gene. A complete mutation of the
Klinefelter is a rare disease that occurs in males. It is caused by the presence of an extra X chromosome, instead of XY chromosomes, affected individuals have XXY chromosomes. For this reason, the syndrome is also often known as XXY syndrome.
Autosomal recessive inheritance refers to the way in which some genetic changes, or rare diseases, are passed down from parents to their offspring. With autosomal recessive inheritance, the precise chromosomes affected are autosomal chromosomes. This means the gene mutation responsible for causing an autosomal recessive rare disease or disorder, is located on one of the first 22 non-sex chromosomes. The cells of the human body are made up of 46 chromosomes, in 23 pairs. Genes come in pairs – one is received from the mother, and one from the father.
Autosomal dominant inheritance is a type of genetic inheritance and it explains the way in which a gene mutation is passed down from parent to child. When it comes to autosomal dominant inheritance, just one copy of the gene mutation is enough to cause the related rare disease or genetic syndrome.
X-linked inheritance means that a gene mutation occurs on the sex chromosomes. Females have two X sex chromosomes, males have one X and one Y sex chromosomes. There are two main types of X-linked inheritance. A gene mutation inherited in an X-linked recessive pattern, is located on the X chromosome. Because of the fact that males have only one X chromosome, they will always be affected by rare diseases inherited according to this pattern. Females with two X chromosomes will generally be just carriers for the genetic mutation, and show no-limited, or very mild symptoms.
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.