Which developmental issues are commonly associated with RASopathies?

The selection of cardiac defects and developmental delay as the correct answer highlights the key clinical features commonly associated with RASopathies. RASopathies are a group of genetic conditions that arise from dysregulation of the RAS signaling pathway, which is critical for cell growth and differentiation. These disorders, such as Noonan syndrome, Costello syndrome, and neurofibromatosis type 1, often present with a range of developmental and cardiovascular issues.

Patients typically exhibit various congenital heart defects, including pulmonary stenosis and hypertrophic cardiomyopathy. These cardiac anomalies can significantly impact health and development. Additionally, developmental delay is frequently seen among individuals with RASopathies, which may manifest as delays in speech, motor skills, and overall cognitive development. Recognizing these associations is crucial for early diagnosis and management of affected individuals.

In contrast to the other options, which do not typically characterize RASopathies, there are no significant associations with severe metabolic acidosis, hyperuricemia leading to kidney stones, or acute metabolic decompensations within this specific group of genetic disorders. This further substantiates the relevance of cardiac defects and developmental delay as a defining characteristic of RASopathies. Understanding these connections is vital for genetic counselors and healthcare