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,. 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.

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."

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. But she did, and is still alive today. She will never be any taller than 30 inches, or weigh any more than 9 lb.

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.

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. 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 PD.