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.
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.
individuals without microcephalic primordial dwarfism or closely related conditions
Any individual at any age with microcephalic primordial dwarfism or a closely related condition
Case-only
Other
Not listed
Characterization of the natural history of various forms of primordial dwarfism
Data will be collected at enrollment, and over time, to allow for analysis of associated concerns throughout the lifespan
Click on the lead sponsor to view all of their trials.
Nemours Children's Clinic
Lead sponsor
Potentials Foundation
Collaborator
Walking with Giants Foundation
Collaborator
