Primordial dwarfism

Primordial dwarfism is a rare form of dwarfism that results in a smaller body size in all stages of life beginning from before birth. More specifically, primordial dwarfism is a diagnostic category including specific types of profoundly proportionate dwarfism, in which individuals are extremely small for their age, beginning from their conception. Most individuals with primordial dwarfism are recognized by medical professionals while they are still in the womb.

Medical professionals typically diagnose the fetus as being small for the gestational age, or as having intrauterine growth retardation when an ultrasound is conducted. Typically, people with primoridal dwarfism are born with very low birth weights. After birth, growth continues at a stunted rate, leaving individuals with primordial dwarfism perpetually years behind their peers in stature and in weight.

Estimates in the United States for individuals born with dwarfism range from 100,000 to 500,000. Most cases of short stature are caused by skeletal or endocrine disorders. The five subtypes of Primordial Dwarfism are the most severe forms of the 200 types of dwarfism, and it is estimated that there are only 100 individuals in the world with the disorder,^[1]. Other sources list the number of persons currently afflicted as high as 100 in North America.

It is unlikely that sufferers of primordial dwarfism will live past the age of 30.^[2] In the case of Majewski osteodysplastic primordial dwarfism (MOPD) type II there can be increased risk of vascular problems, which may cause premature death.^[3]

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History

An individual known as Caroline Crachami was the first individual to be recognized as having primordial dwarfism. She was born in Palermo, Italy, in the year 1815. The exact history of Crachami's existence remains a conundrum, but she travelled with a gentlemen known as "Dr. Gilligan", where she did innumerable exhibitions and appearances as she traveled throughout London. Reportedly, Crachami knew enough English to express herself vividly, and her voice was described as thin and high-pitched in nature.

Shortly before she died in 1824, a journalist by the name of William Jerdan published her bodily measurements. Her height was 19½ inches, the length of her foot measured at 3⅛ inches, and the length of her forefinger, 1⅞ inches. The circumference of her head was measured at 12⅜ inches, and the circumference of her waist was 11¼ inches. William Jerdan wrote in his journal:

"Only imagine a creature about half as large as a new-born infant; perfect in all its parts and lineaments, uttering words in a strange, unearthly voice, understanding what you say and replying to your questions. Imagine I say, this figure of about 19½ inches in height and 5 pounds in weight, and you will have some idea of this most extraordinary phenomenon."

The existence of Primordial Dwarfism began to appear in the media in the early 1990s, when Dr. Judith Hall of the University of British Columbia appeared on the Sally Jesse Raphael show with 3 young women, including Stephanie Mayhew, who shared similar characteristics of short stature.

In the late 1990s and early 2000, appearances on the Maury Povich show by two children, Daniel White and Hannah Kritzeck, brought more attention to the syndrome which became known as MOPD II. In July of 2004, Dr. Hall published a study of the syndrome in the American Journal of Medical Genetics, which detailed the symptoms of MOPD II, and contained details of over 30 cases in the United States.

Also in 2004, Granada Television produced a special program for the BBC titled “The Smallest People in the World” which featured several children and one adult female living in the United States with MOPD II, including Bridget and Bradley Jordan, a brother and sister who are both affected by the syndrome. The show aired in 2005 in the U.S. on The Learning Channel, and in the UK on BBC-4, and was well received in several documentary film festivals.

There is also a more recent case of Kenadie Jourdin-Bromley, who, at birth, weighed just 2 lb 3 oz (990 g), on February 13, 2003. A documentary has been made on her, called 'The Real Life Thumbelina' It is shown periodically on the Discovery Channel. Kenadie is known all over the world, because when she was born, doctors did not believe that she would survive the night.

Each year, at the annual convention of Little People of America, several families with members affected by Primordial Dwarfism gather to share information and ideas for adapting their environment for these special children. In recent years, families have come from as far away as the United Kingdom and New Zealand. For many of the children, it is their first opportunity to meet another individual with whom they share similar physical characteristics. The convention attracts thousands of people with various forms of dwarfism each year, but even among this community of little people, the children with Primordial Dwarfism stand out as a distinct minority.

Diagnosis

Since primordial dwarfism disorders are extremely rare, misdiagnosis is common. Because children with PD do not grow like other children, poor nutrition, a metabolic disorder, or a digestive disorder may be diagnosed initially. The correct diagnosis of PD may not be made until the child is 5 years old and it becomes apparent that the child has severe dwarfism.

Causes and treatment

What causes primordial dwarfism is not yet known, and there are as yet no effective treatments for the disorder. It is known that PD is caused by inheriting a mutant gene from each parent.^[4] The lack of normal growth in the disorder is not due to a deficiency of growth hormone, as in hypopituitary dwarfism. Administering growth hormone, therefore, has little or no effect on the growth of the individual with Primordial Dwarfism.

Notable people believed to have primordial dwarfism

• Nelson de la Rosa - Late actor linked to the Red Sox.
• Lucia Zarate - First person identified to have MOPD II..^[5]
• Weng Weng - Late Filipino actor and martial artist

References

1. ^ http://tlc.discovery.com/tvlistings/episode.jsp?episode=0&cpi=55082&gid=0&channel=TLC
2. ^ As seen on the 2006 TLC/Channel Four program on primordial dwarfism, The Smallest People in the World,
3. ^ American Journal of Medical Genetics
4. ^ National Geographic Channel Presents: Science of Dwarfism
5. ^ American Journal of Medical Genetics

• primordialdwarfism.com - A Site devoted to support the families of those affected by Primordial Dwarfism

• garyparker.com Primordial Dwarfism Portrait Gallery