Empowering Parents with Knowledge and Tools to Navigate Genetic Disorders
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Some of the most widely recognized symptoms of rare diseases are their unique facial features. Perhaps the most well known of these are the almond-shaped eyes and flattened nasal bridge common in individuals with Down syndrome
There are five widely recognised genetic disorders in babies that are currently believed to be the most common. This is either because of their high prevalence, or because there is more awareness about these particular genetic disorders.
A chromosomal abnormality is one that affects either the number of chromosomes an individual has. They may have missing or extra chromosomes. A chromosomal abnormality may also affect the structure of chromosomes, meaning missing parts, repeated chromosomes or rearranged chromosomes.
Some genetic diseases, due to the way in which they are inherited or passed on, may only affect mothers and sons. This occurs when a genetic disease is inherited in an X-linked recessive pattern. If a Mother carries a gene mutation or change (known to cause a rare disease) on one of her two X chromosomes, and then passes it on to her son, she is in effect passing the rare disease down a generation. This occurs because male children inherit their X chromosome from their mother, and their Y chromosome from their father. Female children have two X chromosomes, and they receive a copy of each from each parent.
Chromosome deletion syndromes are caused by deletions from parts of chromosomes. This means that parts of a chromosome are missing as a result of the deletion. Also known as chromosomal abnormalities these deletions can cause serious medical and health issues from birth. They can also cause severe intellectual disability.
Genes form the basis of all living organisms. Scientists once tested to see what was the smallest possible amount of genes necessary to sustain life. Starting with a microbe that had one of the smallest known genomes (complete sets of genetic instructions), they trimmed down the genes to 473. However even at that relatively tiny number, it wasn’t clear to researchers what almost a third of the genes involved were meant to do. Human beings are more complex, and contain more than 22,000 genes. Even humanity’s greatest scientists are still not sure what many of them do. Some may be deleted or duplicated and cause tremendous damage, while some may be nonfunctional and yet cause no obvious harm.
Williams syndrome is a genetic syndrome that presents with multiple symptoms. It is defined as a rare disease and occurs in just 1 in every 10,000 people. Symptoms of this rare disease affect multiple systems and parts of the body.
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.