Potentials Foundation

A Brief Overview:

Primordial Dwarfism
Primordial Dwarfism (PD) is a class of disorders where growth is delayed from birth. Those with PD experience intrauterine growth retardation (IUGR) and are smaller than average babies. IUGR can occur as early as 13 weeks and becomes progressively more severe over the length of the pregnancy. Full term birth weight is less than 3 lbs and lengths are less than 16 inches. Most PDs are born prematurely with an average weight of 2 lbs 3 oz. Adult heights are typically less than 40 inch and the voice is high pitched.
Primordial Dwarfism comprises 5 main groups: Russell-Silver (RSS), Seckel, Meier-Gorlin (MG), Majewski osteodysplastic primordial dwarfism (MOPD) Types I/III and Type II. Primordial Dwarfism can be subdivided into two groups: normocephalic meaning a normal sized head and microcephalic meaning a small head. Russell-Silver is a normocephalic form of PD. Microcephalic Primordial Dwarfism (MPD) includes MOPD II, MOPD I/III, Meier-Gorlin, and Seckel syndrome. There may be some forms of MPD that are as yet unclassified.
The Potentials Foundation began in 2007 as a non-profit serving the MOPD II community. More recently our scope has enlarged to include the MOPD I/III, Meier-Gorlin and remarkably similar individuals. Although the Potentials Foundation sponsors ongoing genetic research there is no definitive test at this time.
In identifying MPD geneticist use differential diagnosis, a systematic method used to identify unknowns. Diagnosis is complex and is based on clinical findings using patient history, physical characteristics, and radiographic review.
MOPD II
Inherent to this condition are complex skeletal, dental, vision, and hearing issues, as well as severe brain vascular complications that may lead to aneurysm or stroke. Many will face multiple surgeries within early childhood.
Challenges and Triumphs
Physical issues are compounded by safety concerns and social struggles. It takes tremendous effort to live in a world that does not fit; where basic needs are out of reach. Daily living may present constant challenges, but we believe those with MOPDII, MOPD I/III, Meier-Gorlin and remarkably similar but not otherwise classified MPD are uniquely equipped to rise above every obstacle. Life is approached with vibrancy and an outgoing personality. Their lives aretruly inspirational. Size may only describe a person with MPD; it never defines who they are. We see unlimited Potential. 

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For more information, please visit

Additional Website Links:

Nemours webpage for Primordial Dwarfism

PrimordialDwarfism.com

Nemours Skeletal Dysplasia Program

Cedars-Sinai Skeletal Dysplasia Program

Little People of America

Painted Turtle Camp

Gary Parker Photography

Kristin's website

Hannah's website

Kenadie's website

Bri & Brad's website

Tyler's website

Maddy's website

Liam's website

Drake's website

Sienna's website

Board Members

501(c)(3)

IRS Filings


Research Articles:

MeierGorlin syndrome genotypephenotype studies: 35 individuals with pre-replication complex gene mutations and 10 without molecular diagnosis

Majewski Osteodysplastic Primordial Dwarfism Type II (MOPD II): Expanding the Vascular Phenotype

MOPDII: Natural History and Clinical Findings

Pericentrin in cellular function and disease

Long-term outcomes in children with moyamoya syndrome

STA-MCA surgery for Moyamoya

Mutations in the Pericentrin (PCNT) Gene Cause Primordial Dwarfism

Microcephalic Osteodysplastic Primordial Dwarfism With Severe Microdontia and Skin Anomalies

Apparently New Osteodysplastic and Primordial Short Stature With Severe Microdontia, Opalescent Teeth, and Rootless Molars in Two Siblings

Multiple Intracranial Aneurysms & Moyamoya Disease associated with MOPDII

Genetic Defects in Human Pericentrin Are Associated with Severe Insulin Resistance and Diabetes

Mutations in the pre-replication complex cause Meier-Gorlin syndrome-Abstract

Mutations in ORC1, encoding the largest subunit of the origin recognition complex, cause microcephalic primordial dwarfism resembling Meier-Gorlin syndrome-Abstract

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Potentials Foundation - A Cause for Chloe 
PO Box 34
Sandoval IL 62882
USA

info@potentialsfoundation.org

Families with a MOPDI/III, MOPDII, Meier-Gorlin or remarkably similar microcephalic primordial dwarfism not otherwise specified
diagnosis are invited to CLICK HERE and register with the foundation to join the family support
We would like to refer families with other forms of Primordial Dwarfism to the following sites for support:
Seckel Syndrome http://groups.yahoo.com/group/seckel-loop/
Russell-Silver Syndrome www.magicfoundation.org/www/docs/112/russel-silver-syndrome