Empowering Parents with Knowledge and Tools to Navigate Genetic Disorders
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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 […]
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. Chromosomal deletion abnormalities, including some of […]
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 […]
Signs of williams syndrome can include feeding difficulties, developmental delays, distinctive facial features, and heart problems. However, these signs can have other causes, and appearance alone cannot confirm a diagnosis. If you notice concerns across several areas of your child’s health or development, discuss them with your pediatrician. Williams syndrome is a genetic syndrome that […]
This rare disease is currently estimated to affect around half a million people worldwide. Its 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. It is not believed to be an inheritable genetic disorder, although a sibling […]
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 that trigger it are new and […]
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. Ehlers-Danlos is, […]
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 genetic syndromes and the most well-known. Down syndrome occurs in individuals who develop an extra chromosome 21 – […]
Fragile X syndrome 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 FMR1 gene causes Fragile X. This mutation prevents the production […]