Registry to Collect Information on Microcephalic Primordial Dwarfism and Related Conditions at Nemours Childrens Hospital

What this Trial Is About

Researchers are collecting information from individuals diagnosed with various forms of microcephalic primordial dwarfism and related conditions through a registry. The goal is to better understand these rare conditions, identify risk factors, and ultimately improve care and quality of life for those affected. This is an observational study focused on gathering data from medical records without additional procedures or visits. The study involves reviewing existing medical records, including specialist evaluations, surgical reports, blood and urine test results, genetic testing, and imaging such as x-rays, CT, MRI, or MRA scans. No new tests or clinic visits are required for participation. All data is collected and stored solely from the participants medical history. Participants will not be required to attend any study visits or undergo special testing. The research team will analyze the collected information to characterize the natural history of these forms of primordial dwarfism over a period of five years. The study is designed to be minimally invasive, relying entirely on existing medical information without impacting the participants routine care.

Primordial Dwarfism Registry