Scientists hunt for genes behind rare birth defect disorder

NCT ID NCT00691223

First seen Jun 27, 2026 ยท Last updated Jun 27, 2026

Summary

This study aims to learn more about the genetic changes that cause Goltz syndrome, a rare condition that affects the skin, bones, eyes, and other organs. Researchers are collecting blood samples from up to 84 people with the condition and their parents to analyze their DNA. No treatments or interventions are being tested; the goal is simply to better understand the disease's genetic roots.

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This is a summary of the original study . Summaries may miss details or leave out important information. Before applying or accepting participation, make sure you have read and understood the full study. Curemydisease.com takes no responsibility whatsoever for anything missed, misunderstood, or acted upon as a result of our summary โ€” we know it does not capture everything.

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Conditions

The condition(s) this trial relates to.

focal dermal hypoplasia

As listed by the trial registrant

The condition terms exactly as the trial's registrant entered them.

Contacts and locations

Locations

  • Baylor College of Medicine

    Houston, Texas, 77030, United States