|Primordial dwarfism Kenadie Jourdin-Bromley|
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 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.
Types of primordial dwarfism
People with Seckel Syndrome are noted to have microcephaly. Many also suffer from scoliosis, hip dislocation, delayed bone age, radial head dislocation, and seizures.
Osteodysplastic Primordial Dwarfism, Type I (ODPDI)
|Primordial dwarfism - kenadie family|
Osteodysplastic Primordial Dwarfism, Type II (ODPDII)
Those who have ODPDII often have further medical issues than the other types such as a squeaky voice, microdontia, widely spaced primary teeth, poor sleep patterns (in early years), delayed mental development, frequent sickness, breathing problems, eating problems, hyperactivity, farsightedness, and do not respond to hormone therapy because primordial dwarfism is not caused by a lack of any growth hormone. After reviewing x-rays it is also found that many have dislocated joints, scoliosis, and delayed bone age as well as microcephaly. They will not reach the size of an average newborn until they are between the ages of 3-5.
Meier-Gorlin Syndrome is known for its victims having small ears and no kneecaps. They are also found to have curved clavicles, skinny ribs, and elbow dislocation. Like Russel-Silver Syndrome, they usually exceed the height of those with Seckel Syndrome and ODPDI and II.
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 suggesting these processes are important.
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 - world's shortest adult until 1997
He Pingping - world's shortest man until his death in 2010.
Kenadie Jourdin-Bromley weighed 2 lbs, 8 ounces when she was born in February 2003. She was not expected to live more than a day, but she has survived. She continued to defy doctors expectations and at the age of 8 months, Kenadie was finally diagnosed with primordial dwarfism, a genetic condition that is believed to affect only about 100 people in the world. She isn't expected to grow past about 30 inches or weigh more than 8 pounds.
More about Primordial Dwarfism: Primordial Dwarfism
Source : Wikipedia