Primordial dwarfism

Primordial dwarfism is a 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, even as a fetus. Most individuals with primordial dwarfism are not diagnosed until they are about 3 years of age.

Medical professionals typically diagnose the fetus as being small for the gestational age, or as having intrauterine growth disability 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.

Most cases of short stature are caused by skeletal or endocrine disorders. The five subtypes of primordial dwarfism are among 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 rare for individuals affected by primordial dwarfism to live past the age of 30. In the case of microcephalic osteodysplastic primordial dwarfism (MOPD) type II there can be increased risk of vascular problems, which may cause premature death.

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
There are as yet no effective treatments for primordial dwarfism. 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 primordial dwarfism. In January 2008, it was published that mutations in the pericentrin gene (PCNT) were found to cause primordial dwarfism. Pericentrin has a role in cell division, proper chromosome segregation, and cytokinesis.

Notable people believed to have primordial dwarfism

 * Charlotte Garside - world's smallest girl
 * Nelson de la Rosa - late actor linked to US baseball team the Boston Red Sox.
 * Lucia Zarate - first person identified to have MOPD II.
 * Weng Weng - late Filipino actor and martial artist
 * Aditya Dev - world's smallest bodybuilder
 * Gul Mohammed - former smallest man of all-time
 * He Pingping - world's shortest man until his death in 2010
 * Khagendra Thapa Magar - world's shortest man from his 18th birthday on 14 October 2010
 * Chandra Bahadur Dangi - current smallest man of all-time
 * Sienna Bernal - part of a set of twins with her sister is a normal height
 * Junrey Balawing