Parents’ Guide to Developmental & Genetic Disorders

Empowering Parents with Knowledge and Tools to Navigate Genetic Disorders

Understanding Genetic Disorders

Genetic disorders are conditions caused by abnormalities in an individual’s DNA, resulting from mutations in a single gene, multiple genes, or chromosomal abnormalities. Early diagnosis and intervention can significantly improve a child’s quality of life. Understanding genetic disorders, which can affect physical health, development, and cognitive functions, is crucial for parents to provide the best care and support. These conditions can be inherited or occur spontaneously, and advances in genetic research have enhanced our ability to diagnose and manage them. Awareness of genetic conditions enables parents to seek appropriate medical advice and interventions early on.

Common Genetic Disorders and Their Diagnosis

Several genetic disorders are commonly seen in children, each with unique characteristics and challenges. For instance, Down Syndrome, caused by an extra copy of chromosome 21, leads to developmental delays, intellectual disabilities, and distinctive facial features. Cystic Fibrosis affects the respiratory and digestive systems with thick mucus production, leading to severe respiratory and digestive problems. Sickle Cell Disease involves abnormal hemoglobin, causing red blood cells to become sickle-shaped, leading to pain, anemia, and other complications. Fragile X Syndrome, the most common inherited cause of intellectual disabilities, affects cognitive and behavioral development, often resulting in learning disabilities and social challenges. Diagnosing these disorders involves genetic testing, which can be conducted prenatally, during infancy, or later in childhood, and includes family medical history, genetic screening, and diagnostic tests.

Supporting Your Child and the Role of Research  

Early identification of developmental delays is key to ensuring children receive the support they need. Parents and caregivers should monitor their child’s progress and consult healthcare providers if there are concerns. Pediatricians use standardized screening tools to assess development and identify concerns. Comprehensive evaluations may include genetic testing, neurodevelopmental assessments, and speech and language evaluations. With appropriate interventions and support, children with developmental delays can make significant progress and achieve better outcomes. Early, proactive measures are crucial in transforming challenges into opportunities for growth and development.

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Articles about Parents' Guide to Genetic Disorders

  • Parents' Guide to Genetic Disorders
    ADHD Symptoms: How the "Family Health Checker app" App Can Help Parents

    ADHD Symptoms: How the “Family Health Checker app” Can Help Parents

    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 […]

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  • Parents' Guide to Genetic Disorders
    5 Genetic Disorders With a Small Head

    5 Genetic Disorders With a Small Head (microcephaly)

    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 […]

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  • Parents' Guide to Genetic Disorders
    10 Different Genetic Disorders

    10 Different Genetic Disorders

    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 […]

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  • Parents' Guide to Genetic Disorders
    5 Genetic Illnesses

    5 Genetic Illnesses

    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 […]

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  • Parents' Guide to Genetic Disorders
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    The Facial Features of Genetic Diseases

    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 […]

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  • Parents' Guide to Genetic Disorders
    The Most Common Genetic Disorders in Babies

    The Most Common Genetic Disorders in Babies

    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 […]

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  • Parents' Guide to Genetic Disorders
    What are the Early Signs of a Chromosomal Abnormality

    What are the Early Signs of a Chromosomal Abnormality?

    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 […]

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  • Parents' Guide to Genetic Disorders
    genetic diseases passed from mother to son

    Genetic Diseases Passed From Mother to Son

    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 […]

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  • Parents' Guide to Genetic Disorders
    chromosome deletion syndromes list

    Chromosome Deletion Syndromes List

    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 […]

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