What condition is characterized by changes leading to both physical and developmental issues in children, as seen in individuals with Down syndrome?

Prepare for USMLE Step 1 Pathology Exam with comprehensive quizzes, flashcards, and detailed explanations. Enhance your understanding and be exam-ready!

Down syndrome, also known as trisomy 21, is caused by the presence of an extra copy of the 21st chromosome, leading to a range of physical and developmental challenges. Children and individuals with Down syndrome often exhibit a distinct set of features, such as facial dysmorphisms (including a flat facial profile and slanted eyes), hypotonia (decreased muscle tone), and increased risk of congenital heart defects.

Developmentally, individuals with Down syndrome typically experience delays in speech and language, as well as intellectual disabilities that can vary in severity. These developmental issues can impact social skills and educational attainment, making early intervention programs that offer educational and therapeutic support crucial for their growth and development.

The condition also predisposes individuals to other health challenges, including an increased risk of certain leukemias, thyroid disorders, and Alzheimer’s disease later in life. These physical and cognitive aspects are characteristic of Down syndrome and help delineate it from other genetic syndromes.

In contrast, other syndromes mentioned present distinct features and challenges: Turner syndrome primarily affects females and is characterized by short stature and gonadal dysgenesis, Becker's muscular dystrophy is a progressive muscular disorder, and Marfan syndrome is associated with connective tissue abnormalities affecting multiple organ systems,

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