Learn About Rhizomelic Syndrome

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What are the Latest Advances for Rhizomelic Syndrome?
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Growth Hormone Treatment for Achondroplasia.
What are the latest Rhizomelic Syndrome Clinical Trials?
Rhizomelic Chondrodysplasia Punctata Registry at A.I. duPont Hospital for Children

Summary: The goal of this registry is to collect medical information on individuals with rhizomelic chondrodysplasia punctata and closely related conditions. The study team hopes to learn more about these conditions and improve the care of people with it by establishing this registry.

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Longitudinal Natural History Study of Patients With Peroxisome Biogenesis Disorders (PBD)

Summary: The Peroxisome Biogenesis Disorders (PBD) are a group of inherited disorders due to defects in peroxisome assembly causing complex developmental and metabolic sequelae. In spite of advancements in peroxisome biology, the pathophysiology remains unknown, the spectrum of phenotypes poorly characterized and the natural history not yet systematically reported. Our aims are to further define this popul...