Medical Information


Primordial Dwarfism
Where We Were: A Little Bit of History
A Closer Look: Medical Summaries on Each Type of Primordial Dwarfism
Where We are Now
A Parent’s Note

Primordial Dwarfism
Estimates of the number individuals with dwarfism in the United States range from 100,000 to 500,000. Most cases of short stature are caused by skeletal or endocrine disorders. Including all known types, there are currently over 200 types of dwarfism, primordial dwarfism included.

PRIMORDIAL DWARFISM (PD) IS A DIAGNOSTIC CATEGORY INCLUDING SPECIFIC TYPES OF SEVERE PROPORTIONATE DWARFISM, IN WHICH INDIVIDUALS ARE SMALL FOR THEIR CHRONOLOGICAL AGE FROM THE VERY BEGINNING OF LIFE.

Most individuals with primordial dwarfism come to medical attention even before they are born, being diagnosed as small for gestational age (SGA) or as having intrauterine growth retardation (IUGR) by ultrasound. People with primordial dwarfism are born at extremely low birth weights. After birth, growth continues at an extremely slow rate, leaving affected individuals years behind their peers in size. 

The Syndromes Most Commonly Included Within the Category of Primordial Dwarfism:

  • Seckel Syndrome
  • Osteodysplastic primordial dwarfism type I (ODPDI) or Majewski’s (MOPDI)
  • Osteodysplastic primordial dwarfism type II (ODPD II) or Majewski’s (MOPDII)
  • Meier-Gorlin Syndrome
  • Russell-Silver Syndrome

The number of possible syndromes being included within this category is constantly changing due to a combination of advances in research and the complexity surrounding many of these conditions. To explain further...


Within some of the types of primordial dwarfism, there has been considerable debate and significant confusion over which clinical findings constitute a particular syndrome. In general, each type of dwarfism is defined by its own physical, mental and developmental findings. In the many forms of primordial dwarfism, these are not so clearly defined and separated. In addition to the severity of growth delay itself, many of the health findings vary widely. Many affected individuals are generally referred to as having of primordial dwarfism because specific diagnosis within the category of primordial dwarfism is difficult.

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