Certified Pediatric Hematology Oncology Nurse (CPHON) Practice Exam 2025 - Free CPHON Practice Questions and Study Guide

Schwachman-Diamond Syndrome is primarily characterized by a triad of findings: pancreatic insufficiency, bone marrow dysfunction leading to hematological issues, and skeletal abnormalities. Each of these features is associated with the condition due to its genetic underpinnings.

Pancreatic insufficiency occurs in a significant number of patients, leading to difficulties with digestion and nutrient absorption, which is a hallmark of the syndrome. Failure to thrive is also common as a direct consequence of pancreatic insufficiency, as children struggle to gain weight and grow normally because they cannot effectively absorb the nutrients they need.

Skeletal abnormalities, such as short stature and other bone issues, are frequently noted in children with Schwachman-Diamond Syndrome, contributing to the overall understanding of the condition's impact on development.

In contrast, while individuals with Schwachman-Diamond Syndrome may have a variety of health issues, cardiac defects are not typically associated with this condition. Therefore, the presence of cardiac defects does not fit within the recognized spectrum of complications and characteristics of Schwachman-Diamond Syndrome, making this the condition that is not associated with the syndrome.