RecruitingNCT04569149

Primordial Dwarfism Registry

Primordial Dwarfism Registry at Nemours Children's Hospital, Delaware

Sponsor

Nemours Children's Clinic

Enrollment

200 participants

Start Date

Mar 11, 2008

Study Type

OBSERVATIONAL

Conditions

MOPDII Meier-Gorlin Syndrome Saul-Wilson Syndrome Microcephalic Primordial Dwarfism IMAGe Syndrome RNU4atac-opathy (e.g MOPDI, Lowry-Wood Syndrome, and Roifman Syndrome)LIG4 Syndrome

Summary

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.

Eligibility

Inclusion Criteria1

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 Criteria1

individuals without microcephalic primordial dwarfism or closely related conditions

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Locations(1)

Nemours

Wilmington, Delaware, United States

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NCT04569149