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Primordial Dwarfism Registry

Primordial Dwarfism Registry at Nemours Children's Hospital, Delaware

Who can join

All ages · All sexes

Inclusion Criteria:

* Individuals with MOPDII, Meier-Gorlin syndrome, IMAGe syndrome, RNU4atac-opathies (MOPDI/III, Roifman syndrome, Lowry-Wood syndrome), LIG4 syndrome, and other classified as well as unclassified types of microcephalic primordial dwarfism and related conditions, as diagnosed by a medical provider, are eligible for this registry.

Exclusion Criteria:

* individuals without microcephalic primordial dwarfism or closely related conditions

About the study

The goal of this registry is to collect information on individuals with forms of microcephalic primordial dwarfism as well as related conditions. The study team hopes to learn more about these conditions and improve the care of people with them by establishing this registry.

Sponsor: Nemours Children's Clinic · Participants: 200 · Started: Mar 11, 2008

Contact the study team

• Angela Duker, MS, CGC · Phone: 302-651-4181
• Emily Longenecker, BS · Phone: 302-298-7978

Official record on ClinicalTrials.gov — NCT04569149

Locations in the U.S.

From ClinicalTrials.gov, data retrieved Sep 30, 2026. Each study sets its own eligibility; the study team decides who can join.