Primordial Dwarfism Registry

Description

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

Conditions

MOPDII, RNU4atac-opathy (e.g. MOPDI/III, Lowry-Wood Syndrome, Roifman Syndrome), Meier-Gorlin Syndrome, Saul-Wilson Syndrome, Ligase 4 Syndrome, Microcephalic Primordial Dwarfism

Study Overview

Study Details

Study overview

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

Primordial Registry at Nemours/A. I. duPont Hospital for Children

Primordial Dwarfism Registry

Condition
MOPDII
Intervention / Treatment

-

Contacts and Locations

Wilmington

Nemours, Wilmington, Delaware, United States, 19803

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

For general information about clinical research, read Learn About Studies.

Eligibility Criteria

  • * Individuals with MOPDII, MOPDI/III, Meier-Gorlin syndrome, or unclassified or closely related types of microcephalic primordial dwarfism as diagnosed by a medical provider are eligible for this registry.
  • * individuals without microcephalic primordial dwarfism or closely related conditions

Ages Eligible for Study

to

Sexes Eligible for Study

ALL

Accepts Healthy Volunteers

No

Collaborators and Investigators

Nemours Children's Clinic,

Angela Duker, MS, PRINCIPAL_INVESTIGATOR, Nemours

Study Record Dates

2030-01-01