Empowering Parents with Knowledge and Tools to Navigate Genetic Disorders
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Sleep is essential for your child’s health and happiness. But did you know that children can also have sleep apnea, a condition many people think only affects adults? Learning about the symptoms and causes of sleep apnea in kids can help you take action early and make sure your child gets the deep, restful sleep […]
Being a parent is a journey filled with joy, challenges, and countless questions about your child’s development. Among these concerns, understanding attention deficit hyperactivity disorder (ADHD) symptoms can be particularly daunting. ADHD is one of the most common neurodevelopmental disorders in children, and early detection can make a significant difference in managing it effectively. We […]
There are thousands of genetic disorders which present with a small head (microcephaly). Some of these genetic disorders are very rare, occurring in just a few individuals globally, while others are more prevalent and may occur in thousands. A small head alone, as with any other unique facial feature, is not a feature of a […]
There are many genetic disorders – 7,000 identified to date, and this number is rising all the time. The majority of genetic disorders are also referred to as rare diseases, meaning they affect less than 200,000 people in the US. Genetic disorders may be the result of a specific gene change or mutation. They may […]
Genetic illnesses are often called by different names and terms. The most common include rare diseases, genetic disorders, genetic syndromes, and genetic conditions. The broad definition of a genetic illness is caused by a genetic or chromosomal change or mutation in the DNA of an affected individual. A gene or chromosome change can trigger any […]
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. When it comes to diagnosing a genetic disease, the identification of specific facial features in an individual may be used […]
There are five widely recognized 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. This genetic disorder occurs in 1 in every 700 live births in the US, making it one of […]
A chromosomal abnormality affects either the number or structure of chromosomes. This can involve missing or extra chromosomes, or structural changes such as missing parts, duplications, or rearrangements. A chromosomal abnormality may be inherited (passed down from parents to child) or it may be the result of a new mutation or gene change that occurs […]
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 […]