Which syndrome is characterized by 1/4000 prevalence and several associated developmental delays?

Fragile X Syndrome is indeed characterized by a prevalence of approximately 1 in 4,000 individuals, particularly affecting males. This genetic condition is the most common inherited cause of intellectual disability, and it is associated with a spectrum of developmental delays, including language difficulties, cognitive impairments, and social anxiety.

The underlying cause of Fragile X Syndrome is a mutation in the FMR1 gene on the X chromosome, leading to the absence of the fragile X mental retardation protein (FMRP), which is crucial for normal synaptic development and function in the brain. Beyond cognitive impacts, individuals with Fragile X may exhibit behavioral characteristics such as autism spectrum features and hyperactivity.

In contrast, the other options listed typically have different prevalence rates or primary characteristics that do not align with the defining features of Fragile X Syndrome. For instance, galactosemia is a metabolic disorder with distinctive clinical features primarily related to the metabolism of lactose, while glycogen storage diseases involve issues in glycogen metabolism, and spinal muscular atrophy primarily affects motor function due to degeneration of motor neurons. Each of these conditions has distinct prevalence rates and clinical features that set them apart from Fragile X Syndrome.