Empowering Parents with Knowledge and Tools to Navigate Genetic Disorders
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This rare disease is currently estimated to affect around half a million people worldwide. It’s prevalence rate is currently 1 in every 15,000 live births. It is characterized by a wide range of symptoms from development delay, to seizures, and sleep issues.
Pitt-Hopkins is a genetic syndrome which is believed to occur in between 1-9 in every 1 million people. It is a rare disease. It is caused by mutations in the TCF4 gene, located on chromosome 18. It is not considered to be an inheritable condition, and the gene mutations which trigger it are new and spontaneous mutations which occur during reproduction.
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.