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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

1 clinical trial for this condition and its sub-types, 1 tagged with Focal dermal hypoplasia itself.

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↑ Hereditary disease (18187) ↑ Developmental defect during embryogenesis (1057)

Including sub-types (1) Tagged with Focal dermal hypoplasia (1)

Not yet finished but already full! 1

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

Focal dermal hypoplasia

Where it sits in the disease tree

Scientists hunt for genes behind rare birth defect disorder