Noonan syndrome is a genetic condition diagnosed in 1 in 1000-2500 live births. It can cause a variety of issues that can affect the heart, growth…
X-Linked Hypophosphatemia Management in Children: An International Working Group Clinical Practice Guideline This important resource provides healthcare practitioners with expert recommendations that will help guide the…
Publication of impact on health-related quality of life from 3 year data with vosoritide. These data suggest that after 3 years of treatment, vosoritide demonstrates a…
Since the approval of vosoritide in 2021, a need was created for a treatment guideline for support clinicians. An international collaborative of leading experts and patient…
Despite the recognized expertise of pediatric endocrinologists, children with skeletal dysplasias have not been consistently managed by these physicians. Growth-altering treatments have broadened the role of…
What is DiGeorge Syndrome? DiGeorge syndrome is a genetic condition where a small part of chromosome 22 is missing. A patient with DiGeorge syndrome is missing…
Turner Syndrome: A Guide for Families What is Turner Syndrome? Turner syndrome is a genetic condition that affects 1 in every 2,000 to 2,500 live-born girls.…
Klinefelter Syndrome: A Guide for Families What is Klinefelter Syndrome? It is a condition in boys caused by the presence of an extra X chromosome. Boys…
Genetic Testing: A Guide for Families What is Genetic Testing? Genetic testing looks for changes in the structure of an individual’s genes. Genes are the DNA…