Primordial Dwarfism Registry
Primordial Dwarfism Registry
The goal of this registry is to collect information on individuals with Microcephalic
 Osteodysplastic Primordial Dwarfism Type II (also called MOPDII) and other 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.
The goal of this registry is to collect information on individuals with Microcephalic
 Osteodysplastic Primordial Dwarfism Type II (also called MOPDII) and other forms of
 microcephalic primordial dwarfism. The registry will enable detailed natural history studies
 of MOPD II and associated conditions. The study team hopes that identification of risk
 factors will allow for preventative treatments and thus a better quality of life for
 individuals with these diagnoses.

 This study is limited to chart review, after signed informed consent obtained. There will be
 no additional visits or time in clinic because of participation in this registry. This study
 involves only the collection and storage of data extracted from the medical record. Records
 that may be requested and reviewed as a part of this study include but may not be limited to:
 specialist evaluations, surgical reports, results of blood and urine tests, genetic testing,
 x-rays, CT/MRI/MRA imaging. There are no special procedures, visits, or expectations of the
 individual as a result of participation in this registry. No one will be asked to have any
 specific testing for the sole purposes of this research.
Inclusion 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.

 Exclusion Criteria:

 -  individuals without microcephalic primordial dwarfism or closely related conditions