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Focal dermal hypoplasia

MONDO:0010592

A syndrome characterized by a polymorphic cutaneous disorder and highly variable anomalies affecting the eyes, teeth, skeleton and the central nervous, urinary, gastrointestinal and cardiovascular systems.

Also known as: Goltz syndrome, Goltz-Gorlin syndrome, focal dermal hypoplasia, focal dermal hypoplasia, X-linked dominant, DHOF, FDH, Fodh, Goltz Gorlin syndrome

5 clinical trials for this condition and its sub-types.

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Broader categories

Disease (618) Hereditary disease (172) Human disease (14) Developmental defect during embryogenesis (7) Disease of genetic or genomic mechanism (2) Disease by developmental or physiological process (0) Disease by etiologic mechanism (0) Disorder of development or morphogenesis (0)
Trials to join now! 2 Not yet finished but already full! 1 Completed 2
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  • Scientists hunt for genes behind rare birth defect disorder

    Knowledge-focused Ongoing

    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 tr…

    Sponsor: Baylor College of Medicine • Aim: Knowledge-focused

    Last updated Jun 27, 2026 12:28 UTC

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